Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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TürkiyeResearch and clinical trials
Children with HSP who had received a genetic diagnosis at a center in Adana were reviewed retrospectively.
GlobalResearch and clinical trials
Led by Gazi University, 14 centers in 9 countries collected data.
TürkiyeResearch and clinical trials
Patients with FMF (familial Mediterranean fever) in Türkiye were counted using the Ministry of Health's e-Nabız records.
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.
TürkiyeResearch and clinical trials
In Ankara, eye doctors followed five children with VKH disease over a long period.
TürkiyeResearch and clinical trials
In Istanbul, a 28-year-old patient received a stem cell transplant and recovered.
GlobalResearch and clinical trials
Results were announced for the high dose of the experimental gene therapy coded AMT-130.
TürkiyeResearch and clinical trials
Istanbul University gave choline for 8 weeks to 15 patients whose homocysteine remained high despite treatment.
TürkiyeResearch and clinical trials
A total of 252 Takayasu patients from 11 rheumatology centers in Türkiye were studied.
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.
TürkiyeResearch and clinical trials
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively.
EuropeResearch and clinical trials
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
TürkiyeResearch and clinical trials
At an eye center in southern Türkiye, surgeries for congenital glaucoma (high eye pressure present from birth) were reviewed.
GlobalResearch and clinical trials
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
GlobalResearch and clinical trials
The trial included 164 patients with autoimmune PAP.
FranceResearch and clinical trials
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
TürkiyeResearch and clinical trials
Patients with GSD type 1 followed in Ankara between 2000 and 2024 were studied.
TürkiyeResearch and clinical trials
The Ministry of Health's e-health records from 2015–2024 were searched.