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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
190 updates · page 4/10
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
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
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
TürkiyeResearch and clinical trials
Attacks in children with FMF rose temporarily after the 2023 earthquake
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
Peer-reviewed publicationFMF
InternationalResearch and clinical trials
Denecimig under the skin once a week or once a month reduced bleeding in hemophilia A in a phase 3 study
Results of a phase 3 study of denecimig, given under the skin, in hemophilia A have been published.
Peer-reviewed publicationHemophilia
GlobalResearch and clinical trials
Olipudase alfa in adults with ASMD: spleen and liver shrinkage continued over up to five years
Final results for the enzyme therapy olipudase alfa in adults with acid sphingomyelinase deficiency have been published.
Peer-reviewed publicationNiemann-Pick A/B
TürkiyeResearch and clinical trials
31 children with limb-girdle muscular dystrophy at Çukurova: calpainopathy was the most common type
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
Peer-reviewed publicationLGMD
InternationalResearch and clinical trials
Cemdisiran, given every three months, reduced myasthenia gravis symptoms in a phase 3 trial
The NIMBLE study, published in The Lancet, examined cemdisiran in myasthenia gravis.
Peer-reviewed publicationMG
GlobalResearch and clinical trials
In Alagille syndrome, maralixibat reduced fatty skin deposits in a pooled analysis of two trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
Peer-reviewed publicationAlagille
GlobalResearch and clinical trials
Light-sensitive molecule tested in the eye for the first time in 6 people with advanced retinitis pigmentosa
In Australia, a drug was injected into 12 eyes of 6 people with advanced RP.
Peer-reviewed publicationRetinitis (RP)
TürkiyeResearch and clinical trials
51 children of Turkish origin with CAPS living in Türkiye and Germany compared
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
Peer-reviewed publicationCAPS
USAResearch and clinical trials
Experimental gene therapy given into the brain fluid in Hurler syndrome: one child followed for 5 years
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
Peer-reviewed publicationMPS I
TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan