Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
106 updates · page 4/6
EuropeResearch and clinical trials
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
GlobalResearch and clinical trials
The study called CANDID is following 111 children and young people with CDKL5 deficiency.
InternationalResearch and clinical trials
Results of a phase 2 study of branaplam, taken by mouth, in Huntington's disease have been published.
InternationalResearch and clinical trials
Setrusumab, tested in brittle bone disease (osteogenesis imperfecta), did not reach its main goal in two large studies.
FranceResearch and clinical trials
In France, patients with TRAPS in the national rare disease registry were re-examined.
ChinaResearch and clinical trials
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
JapanResearch and clinical trials
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
GlobalResearch and clinical trials
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
USAResearch and clinical trials
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
USA and United KingdomResearch and clinical trials
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
GlobalResearch and clinical trials
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
GlobalResearch and clinical trials
An international group of experts reviewed published studies on isovaleric acidemia.
ChinaResearch and clinical trials
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed.
GlobalResearch and clinical trials
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
GlobalResearch and clinical trials
Led by Gazi University, 14 centers in 9 countries collected data.
FranceResearch and clinical trials
At three centers in France, patients with PSP were given an experimental drug, AZP2006, or placebo.
IndiaResearch and clinical trials
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late.
GlobalResearch and clinical trials
Results were announced for the high dose of the experimental gene therapy coded AMT-130.
GlobalResearch and clinical trials
A total of 70 patients from North America, Europe and the Middle East were studied.
USAResearch and clinical trials
In the USA, early treatment with vigabatrin was tested in babies with tuberous sclerosis.