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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

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