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
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
EgyptResearch and clinical trials
In Egypt, 87 children with Glanzmann thrombasthenia from several centers were studied.
ThailandResearch and clinical trials
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
EuropeResearch and clinical trials
Long-term results of atidarsagene autotemcel, a stem cell gene therapy for metachromatic leukodystrophy, have been published.
TürkiyeResearch and clinical trials
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
USAResearch and clinical trials
Intensive care records from children's hospitals in the USA were reviewed.
TürkiyeResearch and clinical trials
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
GlobalResearch and clinical trials
The trial included 172 PAH patients at high risk of death.
TürkiyeResearch and clinical trials
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
TürkiyeResearch and clinical trials
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
TürkiyeResearch and clinical trials
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
TürkiyeResearch and clinical trials
The ministry's national health records were searched.
United KingdomResearch and clinical trials
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
TürkiyeResearch and clinical trials
According to the Federation of Hemophilia Associations, 46 hemophilia patients in Türkiye received gene therapy in clinical trials.
TürkiyeResearch and clinical trials
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
EuropeResearch and clinical trials
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
EuropeResearch and clinical trials
Irbesartan was tested in a trial with 57 adults with vascular EDS.
GlobalResearch and clinical trials
A gene therapy in patients with LHON due to an MT-ND4 gene change was followed for 5 years.
TürkiyeResearch and clinical trials
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
GlobalResearch and clinical trials
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.