Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
113 updates · page 6/6
EUDiagnosis and screening
The EU-funded Screen4Care project published the 245-gene TREAT panel, to be used in newborn genetic screening, in the Orphanet Journal of Rare Diseases.
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.
USAResearch and clinical trials
Intensive care records from children's hospitals in the USA were reviewed.
GlobalResearch and clinical trials
The trial included 172 PAH patients at high risk of death.
United KingdomResearch and clinical trials
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
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.
GlobalResearch and clinical trials
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.
EuropeDiagnosis and screening
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.
USADiagnosis and screening
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.