Rare Diseases
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
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
SwedenResearch and clinical trials
All patients diagnosed with a peroxisomal disorder in Sweden were studied.
GlobalHealth policy
An international expert meeting prepared joint recommendations for eye problems in incontinentia pigmenti.
GlobalResearch and clinical trials
Researchers from Spain reviewed 169 publications on progeria and similar diseases.
USAResearch and clinical trials
In the USA, 12 adults with Becker muscular dystrophy took sevasemten, an experimental drug, for 24 months.
TürkiyeDiagnosis and screening
In Türkiye, 81 children from 19 centers were studied.
TürkiyeResearch and clinical trials
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
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.
JapanDiagnosis and screening
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening.
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.
GlobalDiagnosis and screening
A panel of international eye specialists prepared an imaging guideline for VKH.
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.