Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
172 updates · page 6/9
JapanResearch and clinical trials
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
USANew treatments and approvals
The FDA approved plozasiran for adults with FCS, in addition to diet.
GlobalResearch and clinical trials
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
USAHealth policy
Writing in NEJM, FDA leaders described an approval pathway called the 'plausible mechanism' pathway for individualized therapies for which randomized trials cannot be conducted.
USANew treatments and approvals
The FDA approved the combination of doxecitine and doxribtimine for children and adults with TK2 deficiency whose symptoms began at or before age 12.
United KingdomDiagnosis and screening
25,000 babies have joined the Generation Study, run by Genomics England with the NHS.
USAResearch and clinical trials
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
USANew treatments and approvals
The FDA approved obinutuzumab as an add-on to standard treatment in adults with active lupus nephritis.
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.
IndiaResearch and clinical trials
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late.
EuropeDiagnosis and screening
In Italy, about 2 million newborns were screened between 2019 and 2023.
GlobalResearch and clinical trials
Results were announced for the high dose of the experimental gene therapy coded AMT-130.
GlobalResearch and clinical trials
A total of 70 patients from North America, Europe and the Middle East were studied.
EUNew treatments and approvals
On September 17, 2025, the European Commission approved sebetralstat for hereditary angioedema attacks.