GlobalResearch and clinical trials
Gene therapy given to one eye in LHON: similar improvement seen in both eyes over 5 years
A gene therapy in patients with LHON due to an MT-ND4 gene change was followed for 5 years.
Peer-reviewed publicationLHON
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 16/16
TürkiyeResearch and clinical trials
Hacettepe: fewer eye blood vessels in Fanconi anemia even when the back of the eye looks normal
At Hacettepe University in Ankara, the eye blood vessels of patients with Fanconi anemia were studied.
Peer-reviewed publicationFanconi anemia
GlobalResearch and clinical trials
Lerodalcibep phase 3 trial in HoFH: expected equivalence not shown on the main goal
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.
Peer-reviewed publicationHoFH
EuropeDiagnosis and screening
Genetic data of undiagnosed patients re-examined in Europe: 506 families received a diagnosis
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.
Peer-reviewed publication
TürkiyeResearch and clinical trials
Genetic map of 311 CMT patients in Türkiye: recessively inherited types more common
In Istanbul, 311 CMT patients from 265 families were studied.
Peer-reviewed publicationCMT
TürkiyeDiagnosis and screening
Gene panel in 18 patients with hereditary spherocytosis in Istanbul: 9 new gene changes identified
At Marmara University, 18 pediatric patients were studied genetically.
Peer-reviewed publicationSpherocytosis
TürkiyeResearch and clinical trials
Gene findings in 17 patients with Cornelia de Lange syndrome published from Ankara
Doctors from Ankara Bilkent City Hospital studied children with Cornelia de Lange syndrome.
Peer-reviewed publicationCornelia de Lange
TürkiyeDiagnosis and screening
18 patients with Beckwith-Wiedemann in Ankara: international scoring found helpful for diagnosis
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.
Peer-reviewed publicationBeckwith-Wiedemann
USANew treatments and approvals
Crinecerfont, used together with steroids, approved in the USA for classic CAH
On December 13, 2024, the US Food and Drug Administration (FDA) approved a drug called crinecerfont for classic CAH (congenital adrenal hyperplasia).
Official drug approvalCAH
TürkiyeHealth policy
2025 Annual Program: more rare disease centers, neuromuscular units to reach 30
The Ministry of Health will increase the number of treatment and research centers for rare diseases.
Official statement or regulation
USADiagnosis and screening
Newborn genome screening in New York: 3.7% of the first 4,000 babies screened positive
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.
Peer-reviewed publication
TürkiyeResearch and clinical trials
Gene therapy trials for GM1 gangliosidosis and OTC deficiency at Gazi Hospital
Two gene therapy clinical trials are being carried out at Gazi University.
News reportGM1