Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
235 updates · page 5/12
TürkiyeDiagnosis and screening
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.
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.
TürkiyeDiagnosis and screening
Hacettepe University studied 10 patients diagnosed with FOP.
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.
TürkiyeResearch and clinical trials
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
USAResearch and clinical trials
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
TürkiyeResearch and clinical trials
The heart findings of children with Marfan syndrome were studied at Ordu University.
TürkiyeDiagnosis and screening
Babies found to have biotinidase deficiency through newborn screening in Konya were studied.
TürkiyeDiagnosis and screening
A study from Kayseri City Hospital examined diagnostic delay in Wilson disease.
TürkiyeResearch and clinical trials
Under the supervision of the Ministry of Health, pregnancy outcomes of women with systemic sclerosis across Türkiye were studied.
GlobalResearch and clinical trials
The phase 3 trial included 270 people aged 2 to 55 years, and half received the drug and half received placebo.
TürkiyeResearch and clinical trials
A center in Istanbul studied syndromes in which the skull bones fuse early.
EuropeResearch and clinical trials
The European Alliance of Associations for Rheumatology (EULAR) updated its treatment recommendations for Behçet's disease.