222 hot topic(s) found with the query "Sickle cell disease"
Exagamglogene Autotemcel for Severe Sickle Cell Disease
(Posted: Apr 25, 2024 8AM)
From the abstract: "We conducted a phase 3, single-group, open-label study of exa-cel in patients 12 to 35 years of age with sickle cell disease who had had at least two severe vaso-occlusive crises in each of the 2 years before screening. CD34+ HSPCs were edited with the use of CRISPR-Cas9...A total of 44 patients received exa-cel, and the median follow-up was 19.3 months...Treatment with exa-cel eliminated vaso-occlusive crises in 97% of patients with sickle cell disease for a period of 12 months or more. "
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review
(Posted: Apr 19, 2024 10AM)
From the abstract: "A large proportion of patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. "
Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 3 (12) 248-254
(Posted: Apr 02, 2024 10AM)
From the abstract: " Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex health needs, reduced life expectancy, lifelong disabilities, and high cost of care. A cross-sectional analysis was conducted to calculate the crude and race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Sickle Cell Data Collection program states. The percentage distribution of birth mother residence within Social Vulnerability Index quartiles was derived. Among 3,305 newborns with confirmed SCD (including 57% with homozygous hemoglobin S or sickle ß-null thalassemia across 11 states, 90% of whom were Black or African American [Black], and 4% of whom were Hispanic or Latino), the crude SCD birth prevalence was 4.83 per 10,000 (one in every 2,070) live births and 28.54 per 10,000 (one in every 350) non-Hispanic Black newborns. "
Sickle Cell Disease Approvals Include First CRISPR Gene Editing Therapy
E Harris, JAMA, January 3, 2024
(Posted: Jan 03, 2024 2PM)
From the article: "The US Food and Drug Administration (FDA) recently greenlit 2 cell-based gene treatments for sickle cell anemia, including the first therapy involving the genome editing technology known as CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats–CRISPER-associated protein 9).
Both treatments are approved for people aged 12 years or older and work by modifying people’s own blood stem cells and then transplanting them into their bodies via a single-dose infusion. They change blood cells in different ways, though. "
Genomic medicine year in review: 2023.
Teri A Manolio et al. Am J Hum Genet 2023 12 (12) 1992-1995
(Posted: Dec 14, 2023 8AM)
From the article: "Highlighted papers in genomic medicine implementation research in 2023 continued several themes from earlier years, particularly in diagnostic testing of critically ill infants, genetic diagnosis of rare syndromes, and prenatal and population-based screening for monogenic syndromes. Pharmacogenomics was also highlighted with the first large-scale, multi-country clinical trial of multiple gene-drug pairs. The success of the first CRISPR-Cas9-based therapeutic trial in sickle cell disease and the independence of polygenic risk scores and family history in complex disease risk assessment were also highlighted, as were the high rate of insurance denials for exome sequencing that frequently turned out to be diagnostic. "
How CRISPR gene editing could help treat Alzheimer’s
T Thompson, Nature, December 11, 2023
(Posted: Dec 12, 2023 9AM)
From the article: "Last month saw the first-ever approval of a gene therapy that uses the CRISPR–Cas9 gene-editing tool, a treatment for the blood conditions sickle-cell disease and ß-thalassaemia that works by precisely cutting out a faulty gene in people’s stem cells. Now, researchers in search of new treatments for Alzheimer’s disease are hoping to deploy similar strategies against forms of the disease that are caused by genetic mutations."
In historic decision, FDA approves a CRISPR-based medicine for treatment of sickle cell disease
A Feurstein, StatNews, December 8, 2023
(Posted: Dec 08, 2023 2PM)
From the article: "The Food and Drug Administration on Friday approved the world’s first medicine based on CRISPR gene-editing technology, a groundbreaking treatment for sickle cell disease that delivers a potential cure for people born with the chronic and life-shortening blood disorder. The new medicine, called Casgevy,'s authorization is a scientific triumph for the technology that can efficiently and precisely repair DNA mutations — ushering in a new era of genetic medicines for inherited diseases. "
CRISPR 2.0: a new wave of gene editors heads for clinical trials Landmark approval of the first CRISPR therapy paves the way for treatments based on more efficient and more precise genome editors.
H Ledford, Nature, December 7, 2023
(Posted: Dec 08, 2023 2PM)
From the article: "Less than a month after the world’s first approval of a CRISPR-Cas9 genome-editing therapy, researchers are hoping that the therapy will win its second authorization this week — this time from the United States, with its famously stringent regulators and lucrative health-care market.
The therapy, which UK regulators approved on 16 November, disables a gene as a means of treating a genetic blood disorder called sickle cell disease. A host of other CRISPR-Cas9 therapies that work on the same principle are in clinical trials as treatments for a range of diseases. "
UK first to approve CRISPR treatment for diseases: what you need to know
C Wong. Nature. November 16, 2023
(Posted: Nov 17, 2023 8AM)
From the article: "In a world first, the UK medicines regulator has approved a therapy that uses CRISPR gene editing as a treatment for diseases. The decision marks another high point for a biotechnology that has regularly been lauded as revolutionary in the decade since its discovery. The therapy will treat the blood conditions sickle-cell disease and ß-thalassaemia. Sickle-cell disease, also known as sickle-cell anaemia, can cause debilitating pain, and people with ß-thalassaemia can require regular blood transfusion. "
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 10 (10) e2337484
(Posted: Oct 24, 2023 2PM)
From the abstract: " What genetic modifiers of sickle cell disease (SCD) are currently defined, and what are potential approaches to improve future studies?
In this systematic review and meta-analysis of 571 studies examining 29?670 individuals with SCD, 17?757 associations involving 1552 genes and 25 SCD phenotype categories were discovered; of these, only 173 associations met the study design, reporting, and phenotype or genotype harmonization required for meta-analysis. Gene variants regulating fetal hemoglobin and a-thalassemia were frequently identified, but other associations remained unconfirmed."
Pregnant and Living with Sickle Cell Disease: A Push for Better Outcomes
NIH, September 2023
(Posted: Sep 16, 2023 1PM)
From the website: " Experts say that medical advances in care and disease-modifying therapies have helped many people living with SCD survive well through their reproductive years. For parents-to-be, that means awareness is key. Individuals with SCD are at higher risk than the general population for preeclampsia, as Found discovered; but those with preeclampsia can go on to develop a condition called eclampsia, which can lead to seizures and even coma. People with SCD are also at higher risk for sepsis and blood clots. And there are risks for the fetus, such as lower-than-normal growth in the womb, preterm delivery, and stillbirth."
A Proclamation on National Sickle Cell Awareness Month, 2023
The White House, September 2023.
(Posted: Sep 01, 2023 0PM)
During National Sickle Cell Awareness Month, we recognize the perseverance and strength of the community of people living with this disease and recommit to developing more effective treatments. Approximately 100,000 Americans have Sickle Cell Disease (SCD) — a group of inherited red blood cell disorders that can cause acute, chronic pain and serious health complications, including infections, strokes, organ damage, vision problems, and serious fatigue. Living with SCD often means putting the goals and plans of everyday life on hold to accommodate the demands of the disease, enduring frequent unplanned hospital stays and struggling to pay for costly treatments not covered by insurance.
CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease.
Akshay Sharma et al. N Engl J Med 2023 8 (9) 820-832
(Posted: Aug 31, 2023 7AM)
From the abstract: "CRISPR-Cas9 disruption of the HBG1 and HBG2 gene promoters was an effective strategy for induction of fetal hemoglobin. Infusion of autologous OTQ923 into three participants with severe sickle cell disease resulted in sustained induction of red-cell fetal hemoglobin and clinical improvement in disease severity."
Genetic counseling in sickle cell disease: Insights from the Indian tribal population.
Pooja Aggarwal et al. J Community Genet 2023 8
(Posted: Aug 14, 2023 1PM)
Spreading awareness of sickle cell trait and its possible complications A better understanding of the trait is crucial for both patients and providers
M Shaniqua, Sickle Cell New, August 2023
(Posted: Aug 11, 2023 11AM)
Scientists have found that sickle cell trait originated as an evolutionary response to malaria, one of the deadliest illnesses in tropical regions. The trait offers natural protection against the infectious disease. According to the U.S. Centers for Disease Control and Prevention (CDC), “Sickle cell trait is not a disease, but having it means that a person has inherited the sickle cell gene from one of his or her parents.” If a child inherits two sickle cell genes, one from each parent, then they will have sickle cell disease.
Base-edited gene therapies ‘may be superior’ for sickle cell disease
Healio, July 2023
(Posted: Jul 24, 2023 11AM)
Genomic alteration using adenine base editors demonstrated the most potency in restarting fetal hemoglobin expression in cells of patients with sickle cell disease, study results showed. The genome editing technology proved more stable while producing higher and more uniform levels of fetal hemoglobin in human hematopoietic stem cells compared with CRISPR/Cas9-based editing approaches, according to findings published in Nature Genetics.
The Importance of Patient-Doctor Relationships With Sickle Cell Disease
L Poret, WebMD, July 2023
(Posted: Jul 17, 2023 8AM)
Developing strong relationships with the various hematologists I’ve had over the years has been helpful to my experiences dealing with insurance companies, emergency room doctors, and sometimes even teachers. As a child, I had an incredibly good bond with my pediatric hematologist and her nurse. They did an amazing job of always making me feel seen and like my health was their biggest priority. They understood the fact that sickle cell disease is not an illness that only affects patients Monday through Friday, 9 a.m. to 5 p.m.
Sickle cell cures are coming. African children can’t be left behind
JK Iyer, Statnews, July 2023
(Posted: Jul 14, 2023 1PM)
The treatment of sickle cell disease is on the cusp of a historic breakthrough, with makers of two gene-based treatments for the debilitating blood disorder hoping for regulatory approval this year. But for those with sickle cell in sub-Saharan Africa, where more than 60% of the 120 million people worldwide live with this disease, there is little cause to celebrate. A potential cure that could save them from severe illness and early death will exist — but its expected multimillion-dollar price tag will be far out of reach.
Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000-2021: a systematic analysis from the Global Burden of Disease Study 2021.
et al. Lancet Haematol 2023 6
(Posted: Jul 12, 2023 9AM)
We estimated cause-specific sickle cell disease mortality using standardised GBD approaches, in which each death is assigned to a single underlying cause, to estimate mortality rates from the International Classification of Diseases (ICD)-coded vital registration, surveillance, and verbal autopsy data. In parallel, our goal was to estimate a more accurate account of sickle cell disease health burden using four types of epidemiological data on sickle cell disease: birth incidence, age-specific prevalence, with-condition mortality (total deaths), and excess mortality (excess deaths). Our findings show a strikingly high contribution of sickle cell disease to all-cause mortality that is not apparent when each death is assigned to only a single cause. Sickle cell disease mortality burden is highest in children, especially in countries with the greatest under-5 mortality rates.
Social determinants of health: the next frontier for improving care and outcomes in sickle cell disease
JS Porter et al, Lancet Heamtology, July 2023
(Posted: Jul 12, 2023 8AM)
In the USA, sickle cell disease affects approximately 100?000 individuals, primarily of African descent. Consequently, due to historical systemic and structural racism, discrimination, and disparities, individuals living with sickle cell disease are a socially and economically disadvantaged population with poor health outcomes.
The Lancet Haematology Commission on sickle cell disease: key recommendations
The Lancet Haematology Commission on sickle cell disease: Lancet Hematology, July 2023
(Posted: Jul 12, 2023 8AM)
Ending the burden of sickle cell disease in Africa
MR Motti et al, Lancet Hematology, July 2023
(Posted: Jul 12, 2023 7AM)
Sickle cell disease, an inherited haemoglobin disorder, is the most prevalent genetic disease in WHO's African region. The African region has the highest burden of the disease globally, with a reported prevalence of 2%, causing 38?403 deaths in 2019. 1 About 50–80% of the estimated 400?000 infants born each year with sickle cell disease in Africa die before the age of 5 years. 2 Such high mortality is unwarranted, given scientific advances in disease management,
School and Sickle Cell Disease: Lessons I Had to Unlearn
DN Wilson, WebMD, July 2023
(Posted: Jul 10, 2023 8AM)
I had a mixed experience going to school with sickle cell disease. Sickle cell meant I missed more school days than I would have liked, but it also pushed me to excel despite it. During my time at school, I didn't know anyone that had the condition and didn't fully understand what sickle cell was. As a result, I taught myself to hide that I had sickle cell and do things like everyone else even though I had limitations from the condition.
Screening during IVF for inherited diseases can greatly reduce costs of care
L Flynn, MedicalXpress, July 2023
(Posted: Jul 10, 2023 7AM)
For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to a new study. Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is now being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.
Potent and uniform fetal hemoglobin induction via base editing.
Thiyagaraj Mayuranathan et al. Nat Genet 2023 7
(Posted: Jul 05, 2023 7AM)
Inducing fetal hemoglobin (HbF) in red blood cells can alleviate ß-thalassemia and sickle cell disease. We compared five strategies in CD34+ hematopoietic stem and progenitor cells, using either Cas9 nuclease or adenine base editors. The most potent modification was adenine base editor generation of ?-globin –175A>G. Homozygous –175A>G edited erythroid colonies expressed 81?±?7% HbF versus 17?±?11% in unedited controls, whereas HbF levels were lower and more variable for two Cas9 strategies targeting a BCL11A binding motif in the ?-globin promoter or a BCL11A erythroid enhancer.
Base editing shows potential superiority for curing sickle cell disease
Medical XPress, June 29, 2023
(Posted: Jun 30, 2023 10AM)
Scientists at St. Jude Children's Research Hospital and the Broad Institute of MIT and Harvard used a next-generation genome editing technology, adenosine base editing, to restart fetal hemoglobin expression in SCD patient cells. The approach raised the expression of fetal hemoglobin to higher, more stable, and more uniform levels than other genome editing technologies that use CRISPR/Cas9 nuclease in human hematopoietic stem cells.
Why we need more Black blood donors to treat sickle cell anemia
SB Peter, CNN, June 27, 2023
(Posted: Jun 30, 2023 10AM)
Sickle cell disease is a global health issue, with around 66% of the 120 million people affected worldwide living in Africa, according to the World Health Organization. It affects about 100,000 people in the US and about 14,000 people in the UK. It’s more common in areas of the world, such as Sub-Saharan Africa, where malaria is prevalent, and researchers believe that the genetic mutation that causes sickle cell disease has a protective effect against malaria. Most sickle cell patients in the US and UK have African ancestry.
Suddenly, It Looks Like We’re in a Golden Age for Medicine We may be on the cusp of an era of astonishing innovation — the limits of which aren’t even clear yet.
DW Wells, New York Times. June 23, 2023
(Posted: Jun 24, 2023 10AM)
And although the very first person to receive Crispr gene therapy in the United States received it just four years ago, for sickle-cell disease, it has since been rolled out for testing on congenital blindness, heart disease, diabetes, cancer and H.I.V. So far only two applications for such treatments have been submitted to the F.D.A., but all told, some 400 million people worldwide are afflicted by one or more diseases arising from single-gene mutations that would be theoretically simple for Crispr to fix.
Study provides a more complete picture of sickle cell disease mortality burden
L Ramsey, News Medical, June 2023
(Posted: Jun 16, 2023 8AM)
A new study suggests the number of deaths due to sickle cell disease is 11 times higher than what is indicated from mortality data sources alone. Sickle cell disease is not just underdiagnosed, but it also increases risk of infection and of death from conditions like stroke, heart problems, kidney problems, and pregnancy complications.
CRISPR Therapy Exceeds Targets in Thalassemia, Sickle Cell Disease
M Basset, Medpage today, June 13, 2023
(Posted: Jun 16, 2023 8AM)
Data from two pivotal trials suggest that a single infusion of the CRISPR-based gene therapy exagamglogene autotemcel (exa-cel) can provide a "functional cure" for patients with transfusion-dependent beta-thalassemia or severe sickle cell disease.
Treating Chronic Pain in Sickle Cell Disease - The Need for a Biopsychosocial Model.
Janet E Childerhose et al. N Engl J Med 2023 4 (15) 1349-1351
(Posted: Apr 13, 2023 6AM)
Chronic pain is the most common complication affecting adults with sickle cell disease (SCD). Pain profoundly affects people’s quality of life, functional ability, and health care utilization. Clinicians are often unsuccessful at addressing chronic pain in SCD, especially among the large number of patients for whom nonopioid analgesics aren’t sufficient and those who have developed opioid tolerance. Why aren’t we doing better?
Sickle Cell Data Collection Program
CDC, March 2023
(Posted: Mar 20, 2023 2PM)
This notice of funding opportunity allows recipients to gather unique data and conduct in-depth analyses to inform their sickle cell disease (SCD) efforts and to compare and contrast SCD-related health care and health outcomes across states and across population groups. Each state has a unique demographic makeup, health disparities, distinct health care policies, and challenges related to access to care; all of these factors play a large role in the outcomes and experiences of individuals with SCD.
Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
SB Jarvis et al, IJNS, March 2023
(Posted: Mar 09, 2023 1PM)
Why genetic engineering experts are putting a spotlight on Victoria Gray's case
R Stein, NPR, March 7, 2023
(Posted: Mar 07, 2023 6PM)
Some of the world's most celebrated experts on genetic engineering are in London this week to debate the promise and the peril of gene editing. Yesterday, the summit put the spotlight on one person, Victoria Gray. The Mississippi woman was the first person with sickle cell disease to be treated with a gene-editing technique known as CRISPR.
Sickle Cell Cure Brings Mix of Anxiety and Hope
G Kolata, NY Times, January 17, 2023
(Posted: Jan 18, 2023 0PM)
Some people who have long lived with the disease say they worry about living as a healthy person, while others are concerned about the obstacles to getting treatment. Sickle cell disease affects at least 100,000 people in the United States and millions worldwide. It mostly strikes Black and Hispanic or Latino people, but it also occurs in people with Mediterranean and Indian ancestors. People with the disease face searing pain, stroke, damage to tissues and organs and often death at an early age.
Human genetic diversity alters off-target outcomes of therapeutic gene editing.
Cancellieri Samuele et al. Nature genetics 2022 12
(Posted: Dec 16, 2022 8AM)
CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat disease. However, standard computational and biochemical methods to predict off-target potential focus on reference genomes. We developed an efficient tool called CRISPRme that considers single-nucleotide polymorphism (SNP) and indel genetic variants to nominate and prioritize off-target sites. We tested the software with a BCL11A enhancer targeting guide RNA (gRNA) showing promise in clinical trials for sickle cell disease and ß-thalassemia
Transcript for Vital Signs Telebriefing: Children with sickle cell anemia are at risk for stroke and other complications
CDC, October 2022
(Posted: Oct 13, 2022 6PM)
Today’s Vital Signs highlights the disheartening fact that many young people are not receiving potentially life-saving screenings and treatment for this disease. Sickle cell disease, sickle cell anemia, the most common form of sickle cell disease, is a leading cause of stroke in children and teens. Yet as this report points out, less than half of children two to 16 years of age who were enrolled in Medicaid in 2019 were receiving their recommended annual screening to assess their risk of having a stroke.
Africa must participate in finding a gene therapy cure for sickle-cell disease.
Moshi Grace et al. Nature medicine 2022 10
(Posted: Oct 08, 2022 7AM)
SCD is a disease of global public heath significance, has a dismal effect on the quality of life of many people, and it is a major drain on human and health resources. Scientific collaboration is needed to prioritize treatments that are cost-effective in Africa, where most cases exist. For these interventions to be implemented in Africa, several barriers must be overcome. Barriers include under-funded healthcare systems, lack of appropriate infrastructure, and lack of manufacturing practice facilities.
Sickle Cell Disease and Gene Therapy — Patient and Physician Perspectives
NEJM, Youtube video, Septenber 2022
(Posted: Oct 03, 2022 6AM)
In this short documentary video from the New England Journal of Medicine (NEJM), patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy.
Sickle Cell Disease and Gene Therapy - Patient and Physician Perspectives.
DeBaun Michael et al. The New England journal of medicine 2022 9 (13) e28
(Posted: Sep 29, 2022 8AM)
In this short documentary video, patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy. Patients share their own stories of interactions with the health care system and explore the challenging topics of racial disparity and health equity. Physicians express a cautious optimism as they review the risks and benefits of gene therapy.
Treatment of Genetic Diseases With CRISPR Genome Editing
MJ Kan et al, JAMA, September 13, 2022
(Posted: Sep 14, 2022 3AM)
Ongoing clinical trials use CRISPR for somatic cell genome editing to treat hereditary diseases or cancer. In these studies, cells are either removed and edited in tissue culture and then readministered to the patient (ex vivo), or genome editors are packaged within viral vectors or lipid nanoparticles and given intravenously to home to specific tissues (in vivo). Ex vivo therapies have focused on blood disorders, including at least 6 trials aiming to cure sickle cell disease (SCD) or transfusion-dependent ß-thalassemia (TDT).
National Sickle Cell Awareness Month
HHS Minority Health, September 2022
(Posted: Sep 02, 2022 8AM)
September is National Sickle Cell Awareness Month, a time to recognize the perseverance of patients living with sickle cell disease (SCD) and to recommit ourselves to improving the quality of life and health outcomes for all individuals living with SCD. Learn how federal agencies are working to put an end to SCD.
Bringing Sickle-Cell Treatments to Children in Sub-Saharan Africa.
Zhou Albert E et al. The New England journal of medicine 2022 8 (6) 488-491
(Posted: Aug 11, 2022 7AM)
A diagnosis of sickle-cell disease (SCD) portends a lifetime of crises marked by substantial pain, infections, anemia, and increased risk of stroke. Sub-Saharan Africa is home to the majority of people living with SCD. About 236,000 babies are born with SCD in sub-Saharan Africa each year (more than 80 times as many as in the United States), and up to 90% will die during childhood, typically before their fifth birthday. In the United States, by contrast, people with SCD often live into their 40s or beyond. An important contributor to this disparity is differential access to hydroxyurea, a chemotherapeutic agent that reduces the frequency of sickle-cell crises and prolongs survival.
Breaking Down Barriers to ED Care for People with SCD
CDC, May 2022
(Posted: Jun 07, 2022 11AM)
People with sickle cell disease (SCD) frequently visit the emergency department (ED) to seek care and manage symptoms related to their disease. Many people with SCD have reported unique barriers and challenges, such as long wait times and lack of provider knowledge related to SCD, when seeking treatment in emergency care settings. Information on how you and your colleagues is detailed below. You can also use this toolkit to find more resources from ACEP and CDC on how to improve treatment for people with SCD who visit emergency care settings.
Will gene therapy comeback last?
H Ledford, Nature, May 31, 2022
(Posted: Jun 01, 2022 7AM)
After years of disappointment, gene-therapy research has undergone a renaissance, with several high-profile drug approvals and a string of promising clinical-trial results against devastating genetic diseases, including sickle-cell disease and some blood cancers. But as researchers attempt to develop treatments for new conditions, they are also trying to work out how to cope with worrying signs that immune responses to the therapies could hinder their efforts — and generate dangerous side effects.
Changing our DNA: 'The age of human therapeutic gene editing is here'
S LaMotte, CNN, May 31, 2022
(Posted: May 31, 2022 8AM)
The arrival of CRISPR systems in the 1990s and specifically CRISPR-Cas-9 in 2013 heralded a new, more elegant way to edit genes. CRISPR uses what is called guide RNA to get the Cas-9 enzyme to a more precise spot on the DNA strand to make the cut. After years of vetting, the US Food and Drug Administration approved CRISPR-Cas-9 in 2021 for use in human clinical trials for sickle cell disease.
Researchers identify the high costs of living with sickle cell disease Potential curative therapies may help reduce the burden, but are also costly.
NIH, May 16, 2022
(Posted: May 16, 2022 10AM)
Americans ages 64 and younger with commercial health insurance who live with sickle cell disease (SCD) pay almost four times more in out-of-pocket medical costs over their lifetimes, a total of $44,000, compared to people living without the disease. And insurers pay $1.7 million on average for each person living with SCD, according to new research supported by the National Institutes of Health. The healthcare spending analysis underscored the significant financial toll that sickle cell disease, an inherited blood condition, has on patients, their families, and the healthcare system.
Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease.
Kanter Julie et al. The New England journal of medicine 2021 12 (7) 617-628
(Posted: Feb 17, 2022 8AM)
In this ongoing phase 1–2 study, one-time treatment with LentiGlobin resulted in sustained production of HbAT87Q in most red cells, leading to reduced hemolysis and complete resolution of severe vaso-occlusive events.
Sickle Cell Math Is Brutally Simple, but Not Widely Taught
G Kolata, NY Times, December 28, 2021
(Posted: Dec 31, 2021 7AM)
A person who inherits the mutated gene from just one parent has what is called sickle cell trait, not the disease itself. But if both partners in a couple have the trait, there’s a one in four chance that their baby will inherit it from both of them and have sickle cell disease. There is no routine testing of adults for the trait. Medical science is fast approaching a cure for the disease — one that would almost certainly cost more than $1 million per person — but the American medical system does not ensure that parents-to-be get a simple, inexpensive blood test that would inform them if they carry the sickle cell trait.
Real Stories from People Living with Sickle Cell Disease: Rae Blaylark
CDC, November 2021
(Posted: Nov 14, 2021 6AM)
Rae Blaylark is the founder and Executive Director of the Sickle Cell Foundation of Minnesota; a certified community health worker; a certified hemoglobinopathy (red blood cell disorders) counselor; and the sickle cell patient family health advocate at the local children’s hospital, but her first and most important role is as a mother of a young adult living with sickle cell disease (SCD).
Improving Outcomes for Patients With Sickle Cell Disease in the United States
Making the Case for More Resources, Surveillance, and Longitudinal Data
J Kanter et al, JAMA Health Forum, October 29,2021
(Posted: Nov 02, 2021 6PM)
Although considered a rare disease with fewer than 200?000 cases annually in the US, sickle cell disease (SCD) is the most common and clinically significant inherited blood disorder in the US and worldwide. Despite the relatively high prevalence of this rare disease, there is a paucity of longitudinal data available to evaluate access to care or to identify quality metrics. This review discusses why systematic data collection for SCD through population-wide surveillance programs can help to facilitate progress in treatment. It also explores the importance of having both a longitudinal clinical registry and a national surveillance program to improve resource utilization, clinical outcomes, and provide an equitable foundation for care.
NICE recommends first treatment in two decades for sickle cell disease
NICE, October 5, 2021
(Posted: Oct 05, 2021 6AM)
For the first time in 20 years, a new therapy for sickle cell disease is to be made available on the NHS. Crizanlizumab (Adakveo, Novartis) is recommended by NICE as a treatment option for preventing recurrent sickle cell crises in people aged 16 or over. Clinical evidence suggests that people treated with crizanlizumab have significantly fewer sickle cell crises in a year than those receiving other standard treatment options.
COVID-19 and Sickle Cell Disease: Frequently Asked Questions
American Society for Hematology, 2021
(Posted: Sep 03, 2021 7AM)
How do people with sickle cell disease (SCD) do with COVID-19? How should I evaluate respiratory symptoms in children and adults with an active COVID-19 infection? Should I change my use of exchange transfusion for neurological acute symptoms suggesting a stroke or transient ischemic attack? Should I change my use of exchange transfusion or regular blood transfusion for primary and secondary stroke prevention, secondary prevention of ACS, pain or priapism? My patient usually receives antigen-matched red cells. Should I use non-matched units if there is a blood shortage?
Health Equity and Genetic Disorders
CDC, August 2021
(Posted: Sep 01, 2021 7AM)
Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.
Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action
NASEM Report, August 2021
(Posted: Aug 19, 2021 8AM)
This report explores the current guidelines and best practices for the care of patients with SCD and recommends priorities for programs, policies, and research. It also discusses limitations and opportunities for developing national SCD patient registries and surveillance systems, barriers in the healthcare sector associated with SCD and SCT, and the role of patient advocacy and community engagement groups.
Sickle-cell anemia gene therapy
O Alam, Nature Genetics, August 6, 2021
(Posted: Aug 09, 2021 0PM)
A new study demonstrates durable editing of the sickle-cell disease allele in the ß-globin gene into a non-pathogenic variant in human-patient hematopoietic stem and progenitor cells that were transplanted into mice. Editing successfully mediated phenotypic rescue, thus suggesting a potential one-time ABE treatment for sickle-cell disease.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7
(Posted: Jul 22, 2021 7AM)
Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously.
Innovating Sickle Cell Disease education models
NHLBI, July 2021
(Posted: Jul 21, 2021 7AM)
As he played the game, he won a badge each time he answered a question right. But happily, there were no wrong answers. That’s because the game’s goal is to explain – in simple terms – what many don’t know: that SCD affects more than 100,000 people in the U.S. and millions of others worldwide. That it is more common among Black children and adults.
Treatment of Acute Pain in Adults With Sickle Cell Disease in an Infusion Center Versus the Emergency Department : A Multicenter Prospective Cohort Study.
Lanzkron Sophie et al. Annals of internal medicine 2021 7
(Posted: Jul 07, 2021 8AM)
Patients with sickle cell disease (SCD) have vaso-occlusive crises (VOCs). Infusion centers (ICs) are alternatives to emergency department (ED) care and may improve patient outcomes. This prospective cohort study in 4 US sites recruited 483 adults with SCD and followed up for 18 months. The study found that in adults with SCD having a VOC, treatment in an IC is associated with substantially better outcomes than treatment in an ED.
For people in sickle cell crisis, specialized infusion centers offer far better care than the ER, study finds
A Joseph, StatNews, July 5, 2021
(Posted: Jul 07, 2021 7AM)
People with sickle cell disease who were experiencing acute pain crises received far better care at specialized infusion centers than emergency departments, with faster access to pain medication and lower rates of hospital admissions. A new study highlights how the barriers to quality treatment in emergency rooms can lead to worse outcomes for patients with sickle cell disease.
Summer Camp, A Place Where A Kid Can Just Be A Kid… Even If He Or She Has Sickle Cell Disease
CDC, June 2021
(Posted: Jun 17, 2021 9AM)
Summer camp can positively affect any child’s mental and physical health, but perhaps even more so if the child lives with a chronic medical condition such as sickle cell disease (SCD). For these children, the summer camp experience can provide support and education and reduce the social isolation so often experienced by those with a challenging health condition.
Steps to Better Health for People with Sickle Cell Disease Toolkit
CDC, April 2021
(Posted: May 22, 2021 11AM)
In partnership with the American Society of Hematology (ASH), CDC has created health guidance materials for people with sickle cell disease (SCD) based on the ASH Clinical Practice Guidelines on Sickle Cell Disease. These materials include common complications of SCD and steps to take for better health.
Effect of Poloxamer 188 vs Placebo on Painful Vaso-Occlusive Episodes in Children and Adults With Sickle Cell Disease: A Randomized Clinical Trial.
Casella James F et al. JAMA 2021 4 (15) 1513-1523
(Posted: Apr 26, 2021 8AM)
In this randomized clinical trial that included 388 children and adults with sickle cell disease, treatment with poloxamer 188 vs placebo resulted in mean time to last dose of parenteral opioids during vaso-occlusive episodes of 81.8 vs 77.8 hours, a difference that was not statistically significant.
Gene Therapy for Sickle Cell Disease-A Debt to Be Paid.
Ozuah Philip O et al. JAMA pediatrics 2021 3
(Posted: Mar 23, 2021 8AM)
Sickle cell disease, caused by a point mutation in DNA, a single amino acid substitution in a single gene, has long been recognized as a good target for gene therapy. The irony here is inescapable—some of the most underserved patients in the world are ideal candidates for the most advanced medical treatment yet conceived.
A Budget Impact Analysis of Gene Therapy for Sickle Cell Disease: The Medicaid Perspective.
DeMartino Patrick et al. JAMA pediatrics 2021 3
(Posted: Mar 23, 2021 8AM)
An estimated 5464 Medicaid enrollees would be eligible for the gene therapy nationally, with 2315 individuals in the 10 Medicaid programs of interest (16 per 100 000 enrollees). The model projected a mean 1-year budget impact of $29.96 million per state Medicaid program in the sample ($1.91 per member per month). A 5-year annuity payment reduced the short-term budget impact.This study suggests that a gene therapy for severe sickle cell disease is likely to produce a considerable budget impact for many Medicaid plans while potentially offering substantial benefit to patients.
Sickle Cell Treatment Not Linked to Cancer, Researchers Say
G Kolata, NY Times, March 10, 2021
(Posted: Mar 12, 2021 7AM)
Just a few weeks after a promising gene therapy for sickle cell disease seemed to have hit a roadblock, prospects for the treatment now look better. Preliminary data suggesting that it might cause cancer have not held up.
Gene therapy trials for sickle cell disease halted after two patients develop cancer
J Kaiser, Science, February 16, 2021
(Posted: Feb 22, 2021 4PM)
A company has stopped its clinical studies of a promising gene therapy for the blood disorder sickle cell disease after two people who participated developed leukemia-like cancer. The company is now investigating whether a virus it uses to deliver a therapeutic gene caused the cancers, reviving old concerns about the risks of this approach.
Induction of Fetal Hemoglobin by Gene Therapy
MC Walters, NEJM, January 21, 2021
(Posted: Jan 21, 2021 1PM)
The topic of equitable access to novel therapies with curative intent for sickle cell disease commingles clinical, translational, and implementation science. The development of disease-modifying therapies for sickle cell disease was stunted for many years.
Host genetic effects in pneumonia.
Chen Hung-Hsin et al. American journal of human genetics 2020 Dec
(Posted: Jan 08, 2021 9AM)
We performed GWASs of pneumonia susceptibility and severity. Two regions of large effect were identified: the CFTR locus in EA and HBB in AA.(Mutations in these genes cause cystic fibrosis (CF) and sickle cell disease (SCD), respectively. After removing individuals diagnosed with CF and SCD, we uncovered an additional association in R3HCC1L. This variant was also validated in GWASs of COVID-19 hospitalization and lung function.
Is sickle cell disease a risk factor for severe COVID-19 : a multicenter national retrospective cohort
A Abdulrahman et al, MEDRXIV, January 4, 2021
(Posted: Jan 04, 2021 9AM)
SCDC Fact Sheets
CDC, 2020
(Posted: Nov 18, 2020 10AM)
CDC has developed free sickle cell disease fact sheets for several audiences, including patients and their families; partners and public health professionals; and healthcare providers.
Coronavirus Disease among Persons with Sickle Cell Disease, United States, March 20-May 21, 2020.
Panepinto Julie A et al. Emerging infectious diseases 2020 10 (10) 2473-2476
(Posted: Oct 08, 2020 11AM)
Sickle cell disease (SCD) disproportionately affects Black or African American persons in the United States and can cause multisystem organ damage and reduced lifespan. Among 178 persons with SCD in the United States who were reported to an SCD–coronavirus disease case registry, 122 (69%) were hospitalized and 13 (7%) died.
Did You Know Sickle Cell Has Many Faces?
CDC, September 2020
(Posted: Sep 16, 2020 6AM)
Did you know that sickle cell disease (SCD) affects millions of people throughout the world? View “Sickle Cell Has Many Faces” Videos-Watch people with SCD of diverse backgrounds share that SCD can affect anyone, no matter what you look like or where your family comes from.
Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action
NASEM event, September 10, 2020
(Posted: Sep 05, 2020 11AM)
On September 10, 2020, join the National Academies of Sciences, Engineering, and Medicine for a webinar releasing a new report on sickle cell disease (SCD) in the U.S. and discussing a strategic plan and blueprint for improving care and outcomes for individuals with SCD.
When Actions Speak Louder Than Words - Racism and Sickle Cell Disease.
Power-Hays Alexandra et al. The New England journal of medicine 2020 Sep
(Posted: Sep 04, 2020 7AM)
The access to and delivery of high-quality health care for patients with SCD is disrupted by interpersonal racism. Too often patients with SCD simultaneously combat unbearable pain and racist attitudes expressed by health care workers. Despite inexorable pain, patients report getting dressed nicely before presenting to the emergency department in an attempt to avoid judgment and receive better care.
Portable sickle disease test could aid early detection in children
NHLBI, July 2020
(Posted: Aug 12, 2020 6AM)
A fast, low-cost portable test for sickle cell disease (SCD) that was developed could help detect the condition in children living in areas with low resources and get them early treatment that could save lives. About 20 million people globally have SCD, including 100,000 in the United States.
Development of the InCharge Health Mobile App to Improve Adherence to Hydroxyurea in Patients With Sickle Cell Disease: User-Centered Design Approach
NM ALberts et al, JMIR mHealth, May 2020
(Posted: May 15, 2020 9AM)
This study aimed to design a mHealth intervention for individuals with SCD to improve adherence to hydroxyurea, using a user-centered design that was informed by specific barriers to hydroxyurea adherence and utilization in this population.
Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity
F Farook et al, JAMA Network Open, March 27, 2020
(Posted: Mar 28, 2020 8AM)
This cross-sectional study of research funding and outputs for cystic fibrosis and sickle cell disease found that expenditures were greater for cystic fibrosis compared with sickle cell disease. Significantly more research articles and drug approvals were found for cystic fibrosis compared with sickle cell disease.
SickleInAfrica.
Makani Julie et al. The Lancet. Haematology 2020 Feb (2) e98-e99
(Posted: Feb 02, 2020 9AM)
SickleinAfrica is a consortium set up to shape health policy in countriesthat bear the greatest burden of sickle cell disease worldwide. The countries selectedare characterised by high sickle cell disease prevalence, mortality and morbidity,and suboptimal use of interventions.
At 16, She’s a Pioneer in the Fight to Cure Sickle Cell Disease
NY Times, January 11, 2020
(Posted: Jan 12, 2020 2PM)
For more than half a century, scientists have known the cause of sickle cell disease, a single mutation in a gene. Millions of people are affected globally, a vast majority of them Africans. Has gene therapy finally arrived? Helen Obando is the youngest person ever to get a gene therapy that scientists hope will cure the disease, which afflicts 100,000 Americans.
Effort To Control Opioids In An ER Leaves Some Sickle Cell Patients In Pain
S Whitehead, NPR, January 2, 2020
(Posted: Jan 03, 2020 9AM)
People with sickle cell disease aren't fueling the opioid problem, One study published in 2018 found that opioid use has remained stable among sickle cell patients over time, even as opioid use as risen in the U.S. generally. If anything, individuals with sickle cell disease have really been caught in the crossfire when it comes to this opioid epidemic.
International Differences in Outpatient Pain Management: A Survey of Sickle Cell Disease.
El-Amin Nadirah et al. Journal of clinical medicine 2019 Dec 8(12)
(Posted: Dec 18, 2019 8AM)
US providers were more likely to prescribe opioids ( p < 0.001) and were more likely to be "very comfortable" prescribing opioids than non-US prescribers ( p < 0.001). US providers also tended to prescribe more tablets per patient of stronger opioids than non-US physicians
Comparative Effectiveness of a Web-Based Patient Decision Aid for Therapeutic Options for Sickle Cell Disease: Randomized Controlled Trial.
Krishnamurti Lakshmanan et al. Journal of medical Internet research 2019 Dec 21(12) e14462
(Posted: Dec 11, 2019 9AM)
Finding a cure for sickle cell disease
J Makani, Nature Medicine, December 2019
(Posted: Dec 09, 2019 9AM)
I have personally witnessed the excruciating painful episodes known as vaso-occlusive crises that result from sickled red blood cells obstructing circulation, and I have lost family members to this disease. I believe that through research, we will be able to improve the health of individuals with SCD.
Expensive treatments for genetic disorders are arriving. But who should foot the bill?
Nature, December 2019
(Posted: Dec 07, 2019 7AM)
The majority of people with sickle-cell disease are live in the world’s poorest communities and cannot afford the eye-watering costs of treatments.
Gene therapy is facing its biggest challenge yet
Nature, December 2019
(Posted: Dec 07, 2019 7AM)
After finally gaining traction as a potential treatment for certain genetic disorders, gene therapy tackles the challenge of sickle-cell disease.
Too many children live too far from sickle cell treatment they need
GB Staples, AJC, November 2019
(Posted: Dec 05, 2019 7AM)
According to the latest Sickle Cell Data Collection program brief, many children with sickle cell disease and their families not only face long drives to health care providers, they have limited access to doctors who can provide the specialized treatment they need.
Cure Sickle Cell Initiative
NIH, 2019
(Posted: Nov 21, 2019 7AM)
The Cure Sickle Cell Initiative is a NHLBI-led collaborative research effort that will accelerate the development of genetic therapies to cure sickle cell disease. The Initiative will identify and support the most promising genetic therapies so they can be safely used in clinical research within five to 10 years.
Grants for Rare Disease Research
F Sankar, JAMA< November 19, 2019
(Posted: Nov 21, 2019 7AM)
The FDA recently awarded $15 million over the next 4 years to support clinical research aimed at developing new drugs, devices, and medical foods for patients with rare diseases. The grants will support trials that enroll children with a variety of rare diseases, including Duchenne muscular dystrophy (DMD), sickle cell disease, and Fanconi anemia.
Estimated Life Expectancy and Income of Patients With Sickle Cell Disease Compared With Those Without Sickle Cell Disease
D Lubeck et al, JAMA Network Open, November 15, 2019
(Posted: Nov 16, 2019 7AM)
This cohort simulation modeling study showed that projected life expectancy (54 vs 76 years) and quality-adjusted life expectancy (33 vs 67 years) were lower in the sickle cell disease cohort relative to the non–sickle cell disease cohort. Projected lifetime income was also lower in individuals with sickle cell disease.
Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019
(Posted: Nov 13, 2019 8AM)
Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.
Gene-Editing Advance Puts More Gene-Based Cures Within Reach
F Collins, NIH Director Blog, November 5, 2019
(Posted: Nov 06, 2019 8AM)
There’s been tremendous excitement about the potential of CRISPR and related gene-editing technologies for treating or even curing sickle cell disease (SCD), muscular dystrophy, HIV, and a wide range of other devastating conditions. Now comes word of another remarkable advance—called “prime editing”—that may bring us even closer to reaching that goal.
Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943
(Posted: Oct 30, 2019 9AM)
To facilitate research on SCD in Africa, the SickleInAfrica consortium has established a registry that will store longitudinal data from persons with SCD across sub-Saharan Africa. In establishing this registry, the consortium decided to actively identify and anticipate possible ethical issues that may arise in the development and management of the registry.
Improving Access to Care in Sickle Cell Disease
E Ivy, HRSA, September 23, 2019
(Posted: Sep 24, 2019 9AM)
I have lived with sickle cell disease for 48 years. The toll it takes goes far beyond pain – it has impacted me emotionally, economically, and psychosocially. The Sickle Cell Disease Treatment Demonstration Program aims to inform patients of treatments so they become active participants in their care.
CRISPR could help us cure sickle-cell disease. But patients are wary.
M Orcutt, MIT Review, September 18, 2019
(Posted: Sep 23, 2019 8AM)
A gene-editing technique that has shown promise as a potential cure for sickle-cell disease is now being tested in humans. But if it works, will the people who need it even be able to get it? Now that a cure may be in sight, this is an urgent question.
Caregivers and Sickle Cell Disease
CDC, September 2019
(Posted: Sep 17, 2019 7AM)
Caring for a loved one with sickle cell disease? You are not alone!The challenges of caring for a loved one with a chronic disease, like sickle cell disease (SCD), can be isolating and overwhelming. Learn the effect Sickle cell disease has on family members & caregivers.
Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project
CDC, 2019
(Posted: Sep 14, 2019 9AM)
In 2013, the Association of Public Health Laboratories’ and the CDC began working together on the Newborn Screening and Genetics – Hemoglobinopathies Project to help prevent and lower complications related to hemoglobinopathies, such as sickle cell disease and thalassemia.
NHLBI's 2019 Annual Sickle Cell Disease Research Meeting
NHLBI, August 26-28, 2019
(Posted: Aug 21, 2019 8AM)
Accelerating the Science of SCD Therapies—Is a Cure Possible?
EJ Benz et al, JAMA, August 8, 2019
(Posted: Aug 08, 2019 11AM)
Molecular medicine is now at a pivotal moment in its history, a time when scientific capabilities to read, edit, and reprogram the human genetic code for therapeutic approaches are within reach. The rapid pace of innovation suggests that it is time to accelerate curative therapies for the first defined molecular disease, sickle cell disease.
A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease
E Vichinsky et al, NEJM, August 7, 2019
(Posted: Aug 08, 2019 8AM)
In this phase 3 randomized, placebo-controlled trial involving participants with sickle cell disease, voxelotor significantly increased hemoglobin levels and reduced markers of hemolysis.
