Tag: Genetic Disorders
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
First Gene Therapy for Children With Metachromatic Leukodystrophy Approved by FDA
Approval is for a single-dose gene therapy infusion
Treatment With N-Acetyl-L-Leucine Beneficial for Niemann-Pick Disease
Greater mean change from baseline seen in total score on the Scale for the Assessment and Rating of Ataxia with NALL versus placebo
Whole-Genomic Sequencing Increases Molecular Diagnostic Yield
Genomic sequencing has higher yield than targeted gene sequencing for infants suspected of having genetic disorders
Dersimelagon Beneficial for Erythropoietic, X-Linked Protoporphyria
Dersimelagon at doses of 100 and 300 mg increases duration of symptom-free sunlight exposure versus placebo
