USAResearch and clinical trials
Single-dose gene therapy tested in 9 children with GM1 gangliosidosis type II
In the USA, 9 children with type II GM1 gangliosidosis were given a single dose of gene therapy into a vein.
Peer-reviewed publicationGM1
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
172 updates · page 5/9
United KingdomResearch and clinical trials
Stem cell transplant in chronic granulomatous disease in the long term: high survival, frequent late effects
In London, 42 children who had a stem cell transplant for chronic granulomatous disease were studied.
Peer-reviewed publicationCGD
GlobalResearch and clinical trials
Stem cell transplantation in Morquio A syndrome: three-year survival of 90.5% in 41 patients at 9 centers
An international study pooling the results of stem cell transplantation in Morquio A syndrome has been published.
Peer-reviewed publicationMorquio A
ItalyResearch and clinical trials
Stem cell transplant in Krabbe disease starting in late childhood: all six children are alive
In Italy, six patients with Krabbe disease that began late in childhood received a stem cell transplant.
Peer-reviewed publicationKrabbe
EUNew treatments and approvals
Donidalorsen approved in the EU to prevent hereditary angioedema attacks
On January 19, 2026, the European Commission approved donidalorsen, which prevents hereditary angioedema attacks.
Official drug approvalHAE
EUNew treatments and approvals
Levacetylleucine approved in the EU for nervous system symptoms of Niemann-Pick type C
On January 19, 2026, the European Commission approved levacetylleucine for Niemann-Pick type C disease.
Official drug approvalNPC
EuropeResearch and clinical trials
89 pregnancies reviewed in women with long-chain fatty acid disorders; most had good outcomes
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
Peer-reviewed publicationVLCAD deficiency
GlobalResearch and clinical trials
Global natural history study of 111 patients with CDKL5 deficiency: seizures and sleep problems are very common
The study called CANDID is following 111 children and young people with CDKL5 deficiency.
Peer-reviewed publicationCDKL5 deficiency
EUNew treatments and approvals
EU approves the gene therapy etuvetidigene autotemcel for Wiskott-Aldrich syndrome
The European Commission approved etuvetidigene autotemcel for Wiskott-Aldrich syndrome.
Official drug approvalWiskott-Aldrich
InternationalResearch and clinical trials
Trial of oral branaplam in Huntington's disease stopped early because of nerve side effects
Results of a phase 2 study of branaplam, taken by mouth, in Huntington's disease have been published.
Peer-reviewed publicationHuntington
InternationalResearch and clinical trials
Setrusumab did not significantly reduce fractures in brittle bone disease in two phase 3 trials
Setrusumab, tested in brittle bone disease (osteogenesis imperfecta), did not reach its main goal in two large studies.
Preliminary resultOI
FranceResearch and clinical trials
TRAPS in France's rare disease registry: some registered patients have no gene change
In France, patients with TRAPS in the national rare disease registry were re-examined.
Peer-reviewed publicationTRAPS
USANew treatments and approvals
Oral mitapivat approved in the USA for anemia in thalassemia
The FDA has approved mitapivat for the treatment of anemia in adults with alpha- or beta-thalassemia.
Official drug approvalThalassemia
EUNew treatments and approvals
Oral rilzabrutinib approved in the EU for adults with ITP who did not respond to other treatments
The European Commission approved rilzabrutinib on December 22, 2025.
Official drug approvalITP
USANew treatments and approvals
Etuvetidigene autotemcel approved as first gene therapy for Wiskott-Aldrich syndrome
The FDA has approved etuvetidigene autotemcel for Wiskott-Aldrich syndrome.
Official drug approvalWiskott-Aldrich
FranceDiagnosis and screening
In France, an average of 19 months passes from the first symptom to diagnosis of CLN2 disease
In France, 51 children diagnosed with CLN2 disease in 2017-2023 were studied.
Peer-reviewed publicationCLN2
EUNew treatments and approvals
Nipocalimab approved in the EU for myasthenia gravis, including adolescents aged 12 and over
On November 28, 2025, the European Commission approved nipocalimab for generalized myasthenia gravis.
Official drug approvalMG
ChinaResearch and clinical trials
Metformin trial in fragile X syndrome did not meet its main goal
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
Peer-reviewed publicationFragile X
USANew treatments and approvals
Intrathecal onasemnogene abeparvovec approved in the USA for SMA patients aged 2 and older
The FDA approved a new form of onasemnogene abeparvovec, given once into the spinal canal (intrathecally), for children, teenagers and adults aged 2 years and older with SMA and a confirmed mutation in the SMN1 gene.
Official drug approvalSMA
GlobalDiagnosis and screening
AI model popEVE ranks harmful gene changes in rare disease diagnosis
Researchers from Harvard Medical School and the CRG in Barcelona introduced popEVE, an artificial intelligence model that uses evolutionary data, in Nature Genetics.
Peer-reviewed publication