Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
203 updates · page 4/11
InternationalResearch and clinical trials
The HAELO study, published in NEJM, examined lonvoguran ziclumeran in hereditary angioedema.
ChinaResearch and clinical trials
In China, 12 patients aged 5 to 18 received gene therapy in one eye.
TürkiyeResearch and clinical trials
Gaziantep City Hospital studied 27 children.
InternationalResearch and clinical trials
Eight expert physicians prepared a roadmap for sudden crises in maple syrup urine disease.
GlobalResearch and clinical trials
The trial was conducted in 25 countries with 321 patients with moderate or severe lupus.
TürkiyeResearch and clinical trials
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1.
TürkiyeResearch and clinical trials
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
TürkiyeResearch and clinical trials
A total of 39 children with aplastic anemia followed at Ege University from 2004–2024 were studied.
TürkiyeResearch and clinical trials
In Türkiye, 76 patients at 6 centers were studied.
TürkiyeResearch and clinical trials
Visits to a pediatric emergency department in Istanbul between 2016–2025 were studied.
EuropeResearch and clinical trials
In a study conducted in Europe, patients with CIDP were given high-dose steroids or placebo along with IVIg.
IsraelResearch and clinical trials
In Israel, the records of 14 people with Williams syndrome taking medication for anxiety or depression were reviewed.
GlobalResearch and clinical trials
A total of 11 studies examining gene therapy given into the eye in choroideremia were evaluated together.
TürkiyeResearch and clinical trials
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
InternationalResearch and clinical trials
Results of a phase 3 study of denecimig, given under the skin, in hemophilia A have been published.
GlobalResearch and clinical trials
Final results for the enzyme therapy olipudase alfa in adults with acid sphingomyelinase deficiency have been published.
TürkiyeResearch and clinical trials
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
InternationalResearch and clinical trials
The NIMBLE study, published in The Lancet, examined cemdisiran in myasthenia gravis.
GlobalResearch and clinical trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
GlobalResearch and clinical trials
In Australia, a drug was injected into 12 eyes of 6 people with advanced RP.