TürkiyeResearch and clinical trials
New gene findings in 13 patients with Kabuki syndrome from Türkiye
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome.
Peer-reviewed publicationKabuki
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
235 updates · page 9/12
TürkiyeResearch and clinical trials
In Adana, 6 new gene changes found in 10 children with genetically diagnosed HSP
Children with HSP who had received a genetic diagnosis at a center in Adana were reviewed retrospectively.
Peer-reviewed publicationHSP
GlobalResearch and clinical trials
318 retinoschisis patients from 9 countries, led by Ankara: most eyes were followed without surgery
Led by Gazi University, 14 centers in 9 countries collected data.
Peer-reviewed publicationRetinoschisis
TürkiyeResearch and clinical trials
National health records: more than 160,000 people in Türkiye have FMF
Patients with FMF (familial Mediterranean fever) in Türkiye were counted using the Ministry of Health's e-Nabız records.
Peer-reviewed publicationFMF
FranceResearch and clinical trials
Small phase 2 trial of experimental AZP2006 in PSP in France: found to be safe
At three centers in France, patients with PSP were given an experimental drug, AZP2006, or placebo.
Peer-reviewed publicationPSP
IndiaResearch and clinical trials
Late diagnosis in tyrosinemia type 1: all 18 children in India had cirrhosis at diagnosis
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late.
Peer-reviewed publicationTyrosinemia type 1
EuropeDiagnosis and screening
5 years of newborn screening in Italy: MCAD deficiency seen in about one in 22,000 babies
In Italy, about 2 million newborns were screened between 2019 and 2023.
Peer-reviewed publicationMCAD deficiency
TürkiyeResearch and clinical trials
Median eight-year follow-up of five children with VKH disease in Ankara published
In Ankara, eye doctors followed five children with VKH disease over a long period.
Peer-reviewed publicationVKH disease
TürkiyeResearch and clinical trials
Choline supplementation lowered homocysteine in classical homocystinuria: a small study from Istanbul
Istanbul University gave choline for 8 weeks to 15 patients whose homocysteine remained high despite treatment.
Peer-reviewed publicationHomocystinuria
TürkiyeResearch and clinical trials
252 Takayasu patients from 11 centers in Türkiye: aortic valve leakage found in one third
A total of 252 Takayasu patients from 11 rheumatology centers in Türkiye were studied.
Peer-reviewed publicationTakayasu
GlobalResearch and clinical trials
Course of 70 patients with advanced PH1: kidney function declined rapidly and the death rate was high
A total of 70 patients from North America, Europe and the Middle East were studied.
Peer-reviewed publicationPH1
USAResearch and clinical trials
In tuberous sclerosis, a drug given before seizures begin made no difference in development or autism
In the USA, early treatment with vigabatrin was tested in babies with tuberous sclerosis.
Peer-reviewed publicationTuberous sclerosis
TürkiyeResearch and clinical trials
7 McArdle patients found in 350 muscle biopsies in Eskişehir; two had developed kidney failure
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively.
Peer-reviewed publicationMcArdle disease
EuropeResearch and clinical trials
Gitelman syndrome data on 587 patients from Europe: fatigue and salt craving stand out
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
Peer-reviewed publicationGitelman
TürkiyeResearch and clinical trials
Congenital glaucoma in southern Türkiye: success of combined surgery lasted longer over 5 years
At an eye center in southern Türkiye, surgeries for congenital glaucoma (high eye pressure present from birth) were reviewed.
Peer-reviewed publicationCongenital glaucoma
GlobalResearch and clinical trials
Stem cell transplant in STAT3 hyper-IgE syndrome: five-year survival of 93% in 41 patients
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
Peer-reviewed publicationHyper-IgE (Job)
GlobalResearch and clinical trials
Inhaled molgramostim improved gas transfer in the lungs in autoimmune PAP in a phase 3 trial
The trial included 164 patients with autoimmune PAP.
Peer-reviewed publicationPAP
TürkiyeDiagnosis and screening
Genetic testing in 50 patients with Stargardt disease in Ankara: diagnosis confirmed in more than half
In Ankara, the genetic test results of patients diagnosed with Stargardt disease were reviewed.
Peer-reviewed publicationStargardt
FranceResearch and clinical trials
Balance problems common in children with Waardenburg syndrome: higher risk with SOX10 changes
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
Peer-reviewed publicationWaardenburg
TürkiyeDiagnosis and screening
2,243 children with low ALP levels screened in Ankara: hypophosphatasia found in 16
At Ankara Bilkent City Hospital, 2,243 children with low ALP levels were studied.
Peer-reviewed publicationHypophosphatasia