What's New

Last Posted: Jun 27, 2024

• Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review.
  Qin Xiang Ng et al. Health Econ Rev 2024 14(1) 42
• Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.
  Fatma Rabea et al. Commun Med (Lond) 2024 4(1) 119
• Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
  Irina Yu Efimova et al. Pediatr Neurol 2024 156147-154
• Medicaid spending and utilization of gene and RNA therapies for rare inherited conditions.
  Ilina C Odouard et al. Health Aff Sch 2024 2(5) qxae051
• Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.
  Wei Wang et al. Clin Lab 2024 70(5)
• Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
  Mei Lietsch et al. Int J Neonatal Screen 2024 10(2)
• Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
  Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
• Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
  Oliver Schwartz et al. JAMA Pediatr 2024 4
• Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.
  Mary A Curry et al. Neurol Ther 2024
• Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
  Ben Weisburd et al. medRxiv 2024
• Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
  Laurent Servais et al. J Neuromuscul Dis 2024
• Challenges and opportunities in spinal muscular atrophy therapeutics.
  Crystal J J Yeo et al. Lancet Neurol 2024 1 (2) 205-218
• Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
  Carly Eichten et al. J Genet Couns 2024
• Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
  Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142
• Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
  Tamara Dangouloff et al. Neuromuscul Disord 2023 3461-67
• Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
  Shoko Sonehara et al. Genes (Basel) 2023 14(12)
• Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
  Victor D Armengol et al. Neurol Clin Pract 2023 14(1) e200224
• Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.
  Michelle A Farrar et al. Mol Cell Pediatr 2023 10(1) 17
• Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
  Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4)
• Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
  Lingrong Kong et al. Clin Genet 2023
• Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.
  Marty Chaplin et al. Pharmacoecon Open 2023
• Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable?
  Martina Ricci et al. Ann Neurol 2023
• Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
  Julia Wynn et al. Prenat Diagn 2023
• Pilot Study on Newborn Screening for Spinal Muscular Atrophy.
  Helena Fonseca et al. Endocr Metab Immune Disord Drug Targets 2023
• Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
  et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
• A Revolution Is Coming to Medicine. Who Will It Leave Out?
  J Tabery, NY Times, August 5, 2023
• Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
  F Niri et al, IJNS, July 27, 2023
• Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights.
  Mary Curry et al. Neurol Ther 2023
• Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
  Julian Theuriet et al. Eur J Hum Genet 2023
• Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study.
  Jana Willems et al. Orphanet J Rare Dis 2023 18(1) 136
• Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.
  Diana Weidlich et al. Neurol Ther 2023
• Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience.
  Itay Tokatly Latzer et al. Pediatr Neurol 2023 14460-68
• Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma).
  Tolu Ogbonmide et al. Cureus 2023 15(3) e36197
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
  Sikha Singh et al. Int J Neonatal Screen 9(2)
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
  S Singh et al, IJNS, April 2023
• Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
  Tomokazu Kimizu et al. Brain & development 2023
• A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
  Rafael Tesorero et al. PloS one 2023 18(3) e0283024
• Variability in newborn screening across Canada: spinal muscular atrophy and beyond.
  Emilie Groulx-Boivin et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2023 1-19
• Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.
  Yerong Li et al. Journal of genetic counseling 2023
• Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia.
  Deborah Schofield et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100813
• Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples.
  Arian Khorshid et al. Journal of assisted reproduction and genetics 2023
• Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
  T Nuzzo et al, Comm Med, February 15, 2023
• Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
  Kariyawasam Didu S et al. The Lancet. Child & adolescent health 2023
• Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.
  Boursange Sophie et al. Frontiers in pediatrics 2023 101062390
• Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
  Kölbel Heike et al. Children (Basel, Switzerland) 2022 9(12)
• Room to improve: The diagnostic journey of Spinal Muscular Atrophy.
  Carter Michael et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022 4242-46
• Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
  Müller-Felber Wolfgang et al. Journal of neuromuscular diseases 2022
• Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
  Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12
• Significant healthcare burden and life cost of spinal muscular atrophy: real-world data.
  Chan Sophelia H S et al. The European journal of health economics : HEPAC : health economics in prevention and care 2022
• Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
  Abiusi Emanuela et al. Journal of medical genetics 2022
• Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy.
  Belter Lisa et al. PloS one 2022 17(11) e0276756
• New treatments in spinal muscular atrophy.
  Gowda Vasantha Lakshmi et al. Archives of disease in childhood 2022
• Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
  Tizzano Eduardo F et al. Journal of neuromuscular diseases 2022
• California's experience with SMA newborn screening: A successful path to early intervention.
  Matteson Jamie et al. Journal of neuromuscular diseases 2022
• Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
  Leibowitz Ruth et al. Australian journal of primary health 2022
• Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
  Elkins Kathryn et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
• Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
  Milligan John N et al. Genes 2022 13(9)
• Investigating Attitudes Towards Prenatal Diagnosis and Fetal Therapy for Spinal Muscular Atrophy (SMA).
  Schwab Marisa E et al. Prenatal diagnosis 2022
• Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia.
  Wang Tianjiao et al. Journal of neurology 2022
• Gene therapy in neuromuscular disorders.
  Mendonça Rodrigo Holanda et al. Arquivos de neuro-psiquiatria 2022 80(5 Suppl 1) 249-256
• Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands.
  Velikanova Rimma et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022
• Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.
  Soares Célia Azevedo et al. JBRA assisted reproduction 2022
• Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
  Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
• Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany.
  Hahn Andreas et al. Orphanet journal of rare diseases 2022 17(1) 276
• Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
  Lee Bo Hoon et al. Neurology 2022
• Early treatment is a lifeline for infants with SMA.
  Sumner Charlotte J et al. Nature medicine 2022 7
• The cost-effectiveness of newborn screening for spinal muscular atrophy.
  Landfeldt Erik et al. Developmental medicine and child neurology 2022
• Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.
  Fidan Çaglar et al. Intractable & rare diseases research 2022 11(2) 63-69
• Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
  KA Strauss et al, Nature Medicine, June 17, 2022
• Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
  Dangouloff Tamara et al. Developmental medicine and child neurology 2022
• Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing.
  Li Shuyuan et al. The Journal of molecular diagnostics : JMD 2022
• Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing.
  Jin Weijiang et al. Clinica chimica acta; international journal of clinical chemistry 2022 53245-52
• Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.
  McMillan Hugh J et al. Expert opinion on biological therapy 2022
• Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
  Chau Jeffrey Fong Ting et al. NPJ genomic medicine 2022 7(1) 23
• The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
  Ware Gardenier et al. Molecular genetics & genomic medicine 2022 e1897
• Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries.
  Blonda Alessandra et al. Frontiers in pharmacology 2022 12750742
• Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.
  Baker Mei W et al. Neuromuscular disorders : NMD 2022
• The changing therapeutic landscape of spinal muscular atrophy.
  Davidson Joanne E et al. Australian journal of general practice 2022 51(1-2) 38-42
• Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era.
  Zettler Bethany et al. Journal of genetic counseling 2022
• Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.
  Zhao Sumin et al. Scientific reports 2022 12(1) 223

More