TürkiyeResearch and clinical trials
252 Takayasu patients from 11 centers in Türkiye: aortic valve leakage found in one third
A total of 252 Takayasu patients from 11 rheumatology centers in Türkiye were studied.
Peer-reviewed publicationTakayasu
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 8/10
GlobalResearch and clinical trials
Course of 70 patients with advanced PH1: kidney function declined rapidly and the death rate was high
A total of 70 patients from North America, Europe and the Middle East were studied.
Peer-reviewed publicationPH1
USAResearch and clinical trials
In tuberous sclerosis, a drug given before seizures begin made no difference in development or autism
In the USA, early treatment with vigabatrin was tested in babies with tuberous sclerosis.
Peer-reviewed publicationTuberous sclerosis
TürkiyeResearch and clinical trials
7 McArdle patients found in 350 muscle biopsies in Eskişehir; two had developed kidney failure
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively.
Peer-reviewed publicationMcArdle disease
EuropeResearch and clinical trials
Gitelman syndrome data on 587 patients from Europe: fatigue and salt craving stand out
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
Peer-reviewed publicationGitelman
TürkiyeResearch and clinical trials
Congenital glaucoma in southern Türkiye: success of combined surgery lasted longer over 5 years
At an eye center in southern Türkiye, surgeries for congenital glaucoma (high eye pressure present from birth) were reviewed.
Peer-reviewed publicationCongenital glaucoma
GlobalResearch and clinical trials
Stem cell transplant in STAT3 hyper-IgE syndrome: five-year survival of 93% in 41 patients
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
Peer-reviewed publicationHyper-IgE (Job)
GlobalResearch and clinical trials
Inhaled molgramostim improved gas transfer in the lungs in autoimmune PAP in a phase 3 trial
The trial included 164 patients with autoimmune PAP.
Peer-reviewed publicationPAP
FranceResearch and clinical trials
Balance problems common in children with Waardenburg syndrome: higher risk with SOX10 changes
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
Peer-reviewed publicationWaardenburg
TürkiyeResearch and clinical trials
24-year GSD type 1 series in Ankara: a single gene change stood out in 39 patients with type Ia
Patients with GSD type 1 followed in Ankara between 2000 and 2024 were studied.
Peer-reviewed publicationGSD Ia
TürkiyeResearch and clinical trials
First national count using Ministry e-health data: 406 patients with congenital myasthenic syndrome in Türkiye
The Ministry of Health's e-health records from 2015–2024 were searched.
Peer-reviewed publicationCongenital myasthenia
TürkiyeResearch and clinical trials
132 patients with liver glycogen storage disease in Adana: type 3 was the most common
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
Peer-reviewed publicationGSD type III
TürkiyeResearch and clinical trials
Families of children with inherited heart rhythm disorders experience anxiety: a 53-patient study from Hacettepe
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
Peer-reviewed publicationLong QT syndrome
USAResearch and clinical trials
Adding cholic acid to cholesterol studied in 8 patients with Smith-Lemli-Opitz syndrome
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
Peer-reviewed publicationSLOS
TürkiyeResearch and clinical trials
Türkiye iTTP registry: response rate of 79.9% in 215 patients at 19 centers
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.
Peer-reviewed publicationTTP
TürkiyeResearch and clinical trials
Ectodermal dysplasia in 25 families from Türkiye: seven new gene changes
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.
Peer-reviewed publicationEctodermal (HED)
TürkiyeResearch and clinical trials
Joint involvement in 56 GPA patients in Türkiye: in most, many joints were affected at once
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
Peer-reviewed publicationGPA (Wegener's)
GlobalResearch and clinical trials
Rugonersen found safe in a phase 1 study in Angelman syndrome
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
Peer-reviewed publicationAngelman
GlobalResearch and clinical trials
Gene therapy improved hearing in 10 patients with congenital OTOF-related hearing loss
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
Peer-reviewed publicationOTOF
USAResearch and clinical trials
Gene therapy improved vision in 3 adults with Leber congenital amaurosis caused by the LCA5 gene
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
Peer-reviewed publicationLCA