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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 9/16
TürkiyeResearch and clinical trials
At Hacettepe, 3 children with the same SAMHD1 change showed very different symptoms
The SAMHD1 gene causes one type of Aicardi-Goutières syndrome.
Peer-reviewed publicationAicardi-Goutières
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
TürkiyeDiagnosis and screening
Gene screening in 17 babies with diaphragmatic hernia in Istanbul: nine new candidate genes stand out
In Istanbul, broad gene testing was performed in 17 babies with congenital diaphragmatic hernia.
Peer-reviewed publicationDiaphragmatic hernia
TürkiyeResearch and clinical trials
30 children with Pompe disease in Izmir: severe events were less common in those receiving enzyme therapy
Ege University reviewed the records of 30 children with Pompe disease.
Peer-reviewed publicationPompe
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
TürkiyeResearch and clinical trials
31 patients with Joubert syndrome in Istanbul: genetic cause found in 23 families, 13 new gene changes
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
Peer-reviewed publicationJoubert
TürkiyeResearch and clinical trials
48 Turner patients on growth hormone in Diyarbakır: those who started early reached a greater height
In Diyarbakır, 48 Turner patients who received growth hormone and reached their final height were studied.
Peer-reviewed publicationTurner
TürkiyeResearch and clinical trials
17 children with ARPKD in Istanbul: kidneys fail earlier in those with early symptoms
At Marmara University, 17 children diagnosed with ARPKD were studied.
Peer-reviewed publicationARPKD
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
TürkiyeResearch and clinical trials
9 centers in the Marmara region: stroke-like episodes studied in children with mitochondrial disease
In the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
Peer-reviewed publicationMELAS
TürkiyeResearch and clinical trials
39 children with very high cholesterol in Izmir: genetic testing distinguished two different diseases
In Izmir, 39 children with very high LDL cholesterol were studied.
Peer-reviewed publicationHoFH
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
TürkiyeDiagnosis and screening
7 patients with Creutzfeldt-Jakob disease at Hacettepe: sleep problems may be an early sign
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
Peer-reviewed publicationCJD
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