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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USAResearch and clinical trials
In 175 people with Prader-Willi syndrome, carbetocin given as a nasal spray was compared with placebo.
GlobalResearch and clinical trials
A total of 26 adults with Kennedy disease were followed with whole-body muscle MRI every six months for up to 18 months.
GlobalResearch and clinical trials
The ampreloxetine trial included 73 people with MSA whose blood pressure drops when they stand up.
EuropeResearch and clinical trials
The 20-year records of 130 PAP patients from three countries were compared.
United Kingdom and EuropeResearch and clinical trials
The TOPaZ study, published in JAMA, tested two drugs together in adults with brittle bone disease.
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.
TürkiyeDiagnosis and screening
At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing.
TürkiyeDiagnosis and screening
In Ankara, 1,359 patients at 8 dialysis centers had a gene test for Fabry 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.
TürkiyeDiagnosis and screening
At Ankara City Hospital, 14 patients diagnosed with Niemann-Pick type C were reviewed.