Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 12/16
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.
USAHealth policy
The US Food and Drug Administration (FDA) announced 'Rare Disease Evidence Principles' for genetic diseases that generally have fewer than 1,000 patients in the USA.
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.
TürkiyeDiagnosis and screening
In Ankara, the genetic test results of patients diagnosed with Stargardt disease were reviewed.
FranceResearch and clinical trials
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
TürkiyeDiagnosis and screening
At Ankara Bilkent City Hospital, 2,243 children with low ALP levels were studied.
TürkiyeDiagnosis and screening
In Samsun, patients with emphysema of the lungs were screened for alpha-1 antitrypsin deficiency.
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.
TürkiyeDiagnosis and screening
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically.
TürkiyeResearch and clinical trials
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
TürkiyeDiagnosis and screening
The F7 gene was studied in 34 patients at Ege University.
TürkiyeResearch and clinical trials
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
USANew treatments and approvals
The FDA approved concizumab, previously approved for patients with inhibitors, also for preventing bleeding in patients aged 12 years and older with hemophilia A and B without inhibitors.
USANew treatments and approvals
The FDA has approved sepiapterin for the treatment of phenylketonuria.
USAResearch and clinical trials
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
TürkiyeResearch and clinical trials
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.