Tag: Genetic Disorders
Vijoice Granted First Approval for Treatment of PROS
Real-world data show 27 percent of patients with PIK3CA-related overgrowth spectrum treated with Vijoice had radiological response at 24 weeks
Gene Therapy Potentially Curative for β-Thalassemia
Transfusion independence, near-normal Hb levels seen for most children and adults receiving beti-cel for non-β0/β0 genotype β-thalassemia
Protocol Examined for Returning Results in Genomic Research
Among participants in a biobank found to be carrying pathogenic or likely pathogenic variants, 76.3 percent unaware of these research results
Handling of Secondary Genetic Findings in Research Examined
When given more information, almost half of research participants who initially refused opted to accept secondary genetic findings
Enzyme Replacement Therapy Approved for Late-Onset Pompe Disease
Patients taking Nexviazyme saw improvements in respiratory function and walking distance measures
First Drug Approved to Treat Rare Metabolic Disorder
Oxlumo granted approval to treat primary hyperoxaluria type 1
Vosoritide Aids Bone Growth in Children With Dwarfism
Compared with placebo, vosoritide increased growth velocity to near-normal annual rate
Plasma Caffeine Concentration Lower in Parkinson Disease
Results similar for caffeine metabolites and non-xanthine marker for coffee consumption in plasma
Expressive Language Sampling Feasible in Fragile X Syndrome
Evidence of convergent construct validity seen for measures of vocabulary, syntax, unintelligibility
Treatment for Hereditary Breast Cancer Not Always Guideline-Concordant
Treatment seems less in line with practice guidelines, particularly for radiation therapy and chemotherapy
