Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
113 updates · page 4/6
United KingdomResearch and clinical trials
In London, 42 children who had a stem cell transplant for chronic granulomatous disease were studied.
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.
EuropeResearch and clinical trials
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
GlobalResearch and clinical trials
The study called CANDID is following 111 children and young people with CDKL5 deficiency.
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.
FranceDiagnosis and screening
In France, 51 children diagnosed with CLN2 disease in 2017-2023 were studied.
ChinaResearch and clinical trials
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
GlobalDiagnosis and screening
Researchers from Harvard Medical School and the CRG in Barcelona introduced popEVE, an artificial intelligence model that uses evolutionary data, in Nature Genetics.
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.
USAResearch and clinical trials
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
USA and United KingdomResearch and clinical trials
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
GlobalResearch and clinical trials
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
GlobalResearch and clinical trials
An international group of experts reviewed published studies on isovaleric acidemia.
ChinaResearch and clinical trials
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed.
GlobalResearch and clinical trials
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
GlobalResearch and clinical trials
Led by Gazi University, 14 centers in 9 countries collected data.
FranceResearch and clinical trials
At three centers in France, patients with PSP were given an experimental drug, AZP2006, or placebo.