TürkiyeDiagnosis and screening
Genetic childhood dystonia in Türkiye: 26 genes found in 81 children, 7 with the DYT1 gene
In Türkiye, 81 children from 19 centers were studied.
Peer-reviewed publicationDYT1 dystonia
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 5/16
TürkiyeResearch and clinical trials
70 Guillain-Barré patients over 10 years in Istanbul: the picture stayed similar before and after the pandemic
At Ümraniye Training and Research Hospital, 70 adult patients seen from 2015–2025 were studied.
Peer-reviewed publicationGuillain-Barré
InternationalResearch and clinical trials
One-time gene editing treatment reduced hereditary angioedema attacks in a phase 3 trial
The HAELO study, published in NEJM, examined lonvoguran ziclumeran in hereditary angioedema.
Peer-reviewed publicationHAE
ChinaResearch and clinical trials
Single-dose gene therapy into the eye found safe in 12 children with X-linked retinoschisis
In China, 12 patients aged 5 to 18 received gene therapy in one eye.
Peer-reviewed publicationRetinoschisis
TürkiyeResearch and clinical trials
Attention and behavior problems more common in 27 children with hereditary spherocytosis in Gaziantep
Gaziantep City Hospital studied 27 children.
Peer-reviewed publicationSpherocytosis
InternationalResearch and clinical trials
International expert recommendations published for crises in maple syrup urine disease
Eight expert physicians prepared a roadmap for sudden crises in maple syrup urine disease.
Peer-reviewed publicationMSUD
JapanDiagnosis and screening
Japan tests newborn screening to detect urea cycle disorders such as OTC deficiency
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening.
Peer-reviewed publicationOTC deficiency
EUHealth policy
European rare disease conference in Prague calls for a joint EU action plan
The 13th European Conference on Rare Diseases and Orphan Products (ECRD), held in Prague on June 3–4, 2026, came together in calling for a coordinated EU-wide action plan.
Official statement or regulation
GlobalResearch and clinical trials
Intravenous dapirolizumab pegol reduced disease activity in lupus in a phase 3 trial
The trial was conducted in 25 countries with 321 patients with moderate or severe lupus.
Peer-reviewed publicationLupus (SLE)
TürkiyeResearch and clinical trials
50 GA1 patients in Türkiye not detected by screening: late diagnosis left lasting damage
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1.
Peer-reviewed publicationGlutaric aciduria 1
TürkiyeResearch and clinical trials
6 patients with mild citrullinemia type 1 from Istanbul: no crises, but learning problems are common
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
Peer-reviewed publicationCitrullinemia type 1
TürkiyeResearch and clinical trials
20 years of infection data published for 39 children with aplastic anemia in Izmir
A total of 39 children with aplastic anemia followed at Ege University from 2004–2024 were studied.
Peer-reviewed publicationAplastic anemia
TürkiyeResearch and clinical trials
Low bone density found in 39.5% of 76 patients with severe congenital neutropenia in Türkiye
In Türkiye, 76 patients at 6 centers were studied.
Peer-reviewed publicationCongenital neutropenia
GlobalDiagnosis and screening
International consensus guideline published for eye imaging in VKH disease
A panel of international eye specialists prepared an imaging guideline for VKH.
Peer-reviewed publicationVKH disease
TürkiyeResearch and clinical trials
Emergency visits by children with MSUD in Istanbul: uric acid in the blood may show attack risk early
Visits to a pediatric emergency department in Istanbul between 2016–2025 were studied.
Peer-reviewed publicationMSUD
EuropeResearch and clinical trials
In CIDP, adding high-dose intravenous steroids to IVIg did not significantly improve recovery
In a study conducted in Europe, patients with CIDP were given high-dose steroids or placebo along with IVIg.
Peer-reviewed publicationCIDP
TürkiyeDiagnosis and screening
Genetic testing in 63 adults with suspected inherited kidney disease in Ankara: Alport was the most common diagnosis
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.
Peer-reviewed publicationAlport
EUNew treatments and approvals
EU approval of marstacimab extended to hemophilia A and B with inhibitors
The European Commission extended the use of marstacimab to also cover patients with hemophilia A with factor VIII inhibitors and hemophilia B with factor IX inhibitors.
Official drug approvalHemophilia
IsraelResearch and clinical trials
Treating anxiety and depression in Williams syndrome: improvement in most in a 14-person series
In Israel, the records of 14 people with Williams syndrome taking medication for anxiety or depression were reviewed.
Peer-reviewed publicationWilliams
GlobalResearch and clinical trials
Gene therapy in choroideremia: a pooled analysis of 11 studies shows a small gain in vision
A total of 11 studies examining gene therapy given into the eye in choroideremia were evaluated together.
Peer-reviewed publicationChoroideremia