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
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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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
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
Patient with rare HLH receives bone marrow transplant from donor found via TÜRKÖK
In Istanbul, a 28-year-old patient received a stem cell transplant and recovered.
News reportHLH
GlobalResearch and clinical trials
Experimental gene therapy slowed progression in Huntington's disease
Results were announced for the high dose of the experimental gene therapy coded AMT-130.
Preliminary resultHuntington
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
TürkiyeHealth policy
Domestic nusinersen development: mass production targeted for first half of 2026
Health Minister Kemal Memişoğlu announced that the synthesis of the active ingredient nusinersen has been completed.
News reportSMA
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
EUNew treatments and approvals
Oral sebetralstat approved in the EU for hereditary angioedema attacks
On September 17, 2025, the European Commission approved sebetralstat for hereditary angioedema attacks.
Official drug approvalHAE
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