Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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AustriaResearch and clinical trials
In Vienna, 17 adults with Friedreich ataxia who started omaveloxolone treatment were followed for one year.
GlobalResearch and clinical trials
The trial included 114 children aged 3 to 17 years, and for one year the children took the drug or an inactive pill once a day.
EuropeResearch and clinical trials
Patients with genetically confirmed primary ciliary dyskinesia from 11 centers in seven countries were followed for one year.
USAResearch and clinical trials
In the USA, the diets of 40 people with LCHAD deficiency were assessed two years apart.
USAResearch and clinical trials
New results were announced for an experimental gene therapy developed for Rett syndrome.
SwedenResearch and clinical trials
All patients diagnosed with a peroxisomal disorder in Sweden were studied.
GlobalHealth policy
An international expert meeting prepared joint recommendations for eye problems in incontinentia pigmenti.
GlobalResearch and clinical trials
Researchers from Spain reviewed 169 publications on progeria and similar diseases.
USAResearch and clinical trials
In the USA, 12 adults with Becker muscular dystrophy took sevasemten, an experimental drug, for 24 months.
InternationalResearch and clinical trials
The HAELO study, published in NEJM, examined lonvoguran ziclumeran in hereditary angioedema.
ChinaResearch and clinical trials
In China, 12 patients aged 5 to 18 received gene therapy in one eye.
InternationalResearch and clinical trials
Eight expert physicians prepared a roadmap for sudden crises in maple syrup urine disease.
JapanDiagnosis and screening
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening.
EUHealth policy
The 13th European Conference on Rare Diseases and Orphan Products (ECRD), held in Prague on June 3–4, 2026, came together in calling for a coordinated EU-wide action plan.
GlobalResearch and clinical trials
The trial was conducted in 25 countries with 321 patients with moderate or severe lupus.
GlobalDiagnosis and screening
A panel of international eye specialists prepared an imaging guideline for VKH.
EuropeResearch and clinical trials
In a study conducted in Europe, patients with CIDP were given high-dose steroids or placebo along with IVIg.
EUNew treatments and approvals
The European Commission extended the use of marstacimab to also cover patients with hemophilia A with factor VIII inhibitors and hemophilia B with factor IX inhibitors.
IsraelResearch and clinical trials
In Israel, the records of 14 people with Williams syndrome taking medication for anxiety or depression were reviewed.
GlobalResearch and clinical trials
A total of 11 studies examining gene therapy given into the eye in choroideremia were evaluated together.