Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
190 updates · page 6/10
GlobalResearch and clinical trials
An international study pooling the results of stem cell transplantation in Morquio A syndrome has been published.
ItalyResearch and clinical trials
In Italy, six patients with Krabbe disease that began late in childhood received a stem cell transplant.
TürkiyeResearch and clinical trials
Eye doctors at Ankara University studied the eyes of 50 people with albinism.
EuropeResearch and clinical trials
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
TürkiyeResearch and clinical trials
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
GlobalResearch and clinical trials
The study called CANDID is following 111 children and young people with CDKL5 deficiency.
TürkiyeResearch and clinical trials
The SAMHD1 gene causes one type of Aicardi-Goutières syndrome.
InternationalResearch and clinical trials
Results of a phase 2 study of branaplam, taken by mouth, in Huntington's disease have been published.
FranceResearch and clinical trials
In France, patients with TRAPS in the national rare disease registry were re-examined.
TürkiyeResearch and clinical trials
Ege University reviewed the records of 30 children with Pompe disease.
TürkiyeResearch and clinical trials
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
TürkiyeResearch and clinical trials
In Diyarbakır, 48 Turner patients who received growth hormone and reached their final height were studied.
TürkiyeResearch and clinical trials
At Marmara University, 17 children diagnosed with ARPKD were studied.
TürkiyeResearch and clinical trials
In the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
TürkiyeResearch and clinical trials
In Izmir, 39 children with very high LDL cholesterol were studied.
ChinaResearch and clinical trials
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
TürkiyeResearch and clinical trials
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
JapanResearch and clinical trials
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
GlobalResearch and clinical trials
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
TürkiyeResearch and clinical trials
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.