USAResearch and clinical trials
Experimental gene therapy in Rett syndrome: all of the first 12 patients gained at least one skill
New results were announced for an experimental gene therapy developed for Rett syndrome.
Preliminary resultRett
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
5 updates
GlobalResearch and clinical trials
Efzimfotase alfa in hypophosphatasia: positive in children, main goal not met in adolescents and adults
The phase 3 program included 196 patients from 22 countries.
Preliminary resultHypophosphatasia
InternationalResearch and clinical trials
Setrusumab did not significantly reduce fractures in brittle bone disease in two phase 3 trials
Setrusumab, tested in brittle bone disease (osteogenesis imperfecta), did not reach its main goal in two large studies.
Preliminary resultOI
GlobalResearch and clinical trials
Experimental gene therapy slowed progression in Huntington's disease
Results were announced for the high dose of the experimental gene therapy coded AMT-130.
Preliminary resultHuntington
USAResearch and clinical trials
Positive early results reported in the first patient treated with prime editing
The first patient with chronic granulomatous disease received an experimental treatment coded PM359, in which a gene error in the patient's own stem cells was corrected with prime editing.
Preliminary resultCGD