TürkiyeResearch and clinical trials
Türkiye's largest Bardet-Biedl series: a genetic cause found in all 25 patients
In Istanbul, 25 patients were tested with a multigene panel.
Peer-reviewed publicationBardet-Biedl
Rare Diseases
News
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
Low-dose ACTH for infantile spasms in Istanbul: heart changes without symptoms were seen
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
Peer-reviewed publicationWest syndrome
TürkiyeResearch and clinical trials
131 pregnancies of 54 women with Wilson disease studied in Istanbul: three quarters ended in live birth
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
Peer-reviewed publicationWilson
USAResearch and clinical trials
First growth charts published for Smith-Magenis syndrome
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
Peer-reviewed publicationSmith-Magenis
USA and United KingdomResearch and clinical trials
Gene therapy for SCID due to ADA deficiency: no deaths among 62 patients over a median 7.5 years
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
Peer-reviewed publicationSCID
GlobalResearch and clinical trials
Venglustat phase 3 in late-onset Tay-Sachs and Sandhoff disease: no clinical benefit seen
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
Peer-reviewed publicationTay-Sachs, Sandhoff
TürkiyeResearch and clinical trials
Usher syndrome in Türkiye: type 1 and type 2 seen at almost equal rates
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
Peer-reviewed publicationUsher syndrome
TürkiyeResearch and clinical trials
Survey on childhood Still's disease in Türkiye: no child was diagnosed at the first visit
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.
Peer-reviewed publicationSystemic JIA
GlobalResearch and clinical trials
Experts publish 15 recommendations for diagnosis and care in isovaleric acidemia
An international group of experts reviewed published studies on isovaleric acidemia.
Peer-reviewed publicationIsovaleric acidemia
ChinaResearch and clinical trials
28 ASA patients in China: liver transplant corrected ammonia but did not prevent developmental delay
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed.
Peer-reviewed publicationASA
GlobalResearch and clinical trials
Pregnancy in Bartter and Gitelman syndromes: published cases reviewed
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
Peer-reviewed publicationBartter
TürkiyeResearch and clinical trials
12 patients with primary carnitine deficiency from Türkiye: the most common finding was heart muscle disease
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
Peer-reviewed publicationCarnitine deficiency
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
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
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