Tag: Genetic Disorders
Lentiviral Gene Therapy Shows Sustained Clinical Efficacy for ADA-SCID
Overall and event-free survival of 100 and 95 percent, respectively, seen with autologous CD34+ hematopoietic stem-cell lentiviral gene therapy
FDA Grants Accelerated Approval for First Treatment for Barth Syndrome
Forzinity helps improve strength of muscle to straighten the leg and works by improving mitochondria structure and function
Apitegromab Improves Motor Function in Spinal Muscular Atrophy
Significant improvement seen in motor function for patients in combined 20- and 10-mg/kg dose groups versus placebo group
Long-Term Gantenerumab May Slow Decline in Dominantly Inherited Alzheimer Disease
Hazard ratio for clinical decline in Clinical Dementia Rating-Sum of Boxes was 0.53 for those treated with gantenerumab the longest
FDA Approves Kebilidi for Aromatic L-Amino Acid Decarboxylase Deficiency
Approval represents first gene therapy for treatment of AADC deficiency
Lamotrigine, Mexiletine Show Similar Benefits for Nondystrophic Myotonias
No serious adverse events seen with either treatment in eight-week crossover trial,
FDA Approves Miplyffa for Treatment of Niemann-Pick Disease, Type C
Miplyffa is the first drug approved for treating associated neurological symptoms in adults and children 2 years and older
Risk for Venous Thromboembolism Up for Those With Sickle Cell Trait
Risk for pulmonary embolism was higher than that of isolated deep vein thrombosis in SCT
AI May Boost Diagnosis of Rare Genetic Disorders
Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes
Increased Morbidity Risks Seen for Male, Female p.C282Y Homozygotes
Increased risks seen for those with baseline hemochromatosis diagnoses and for those undiagnosed with hemochromatosis
