Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
190 updates · page 3/10
TürkiyeResearch and clinical trials
Researchers in Izmir produced small cornea models from the cells of patients with aniridia.
GlobalResearch and clinical trials
A phase 3 study was carried out with 25 children with severe von Willebrand disease.
USAResearch and clinical trials
In the USA, bitopertin was tested in 15 adults with DBA who did not respond to cortisone.
TürkiyeResearch and clinical trials
At Marmara University, 6 patients under 18 years of age underwent 7 operations between 2011–2025.
EuropeResearch and clinical trials
In France, six patients with AADC deficiency received gene therapy delivered to both sides of the brain.
TürkiyeResearch and clinical trials
In Türkiye, pediatric kidney doctors studied children with primary hyperoxaluria in a national registry.
TürkiyeResearch and clinical trials
A total of 134 adults with phenylketonuria followed at Istanbul Faculty of Medicine were studied.
AustriaResearch and clinical trials
In Vienna, 17 adults with Friedreich ataxia who started omaveloxolone treatment were followed for one year.
GlobalResearch and clinical trials
The trial included 114 children aged 3 to 17 years, and for one year the children took the drug or an inactive pill once a day.
EuropeResearch and clinical trials
Patients with genetically confirmed primary ciliary dyskinesia from 11 centers in seven countries were followed for one year.
USAResearch and clinical trials
In the USA, the diets of 40 people with LCHAD deficiency were assessed two years apart.
TürkiyeResearch and clinical trials
In Istanbul, 14 MPS patients receiving enzyme therapy were followed for two years.
TürkiyeResearch and clinical trials
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
SwedenResearch and clinical trials
All patients diagnosed with a peroxisomal disorder in Sweden were studied.
GlobalResearch and clinical trials
Researchers from Spain reviewed 169 publications on progeria and similar diseases.
USAResearch and clinical trials
In the USA, 12 adults with Becker muscular dystrophy took sevasemten, an experimental drug, for 24 months.
TürkiyeResearch and clinical trials
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
InternationalResearch and clinical trials
The HAELO study, published in NEJM, examined lonvoguran ziclumeran in hereditary angioedema.
ChinaResearch and clinical trials
In China, 12 patients aged 5 to 18 received gene therapy in one eye.
TürkiyeResearch and clinical trials
Gaziantep City Hospital studied 27 children.