USAResearch and clinical trials
Intensive care data in babies with Treacher Collins syndrome: 103 babies studied
Intensive care records from children's hospitals in the USA were reviewed.
Peer-reviewed publicationTreacher Collins
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 15/16
TürkiyeResearch and clinical trials
Long-term follow-up of 491 children with retinoblastoma at Hacettepe: 13 developed a second cancer
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
Peer-reviewed publicationRetinoblastoma
TürkiyeSGK and reimbursement
A third SMA drug to be added to the reimbursement list, minister announces
Another drug used to treat children with SMA will be added to the SGK (Social Security Institution) reimbursement list.
Official statement or regulationSMA
GlobalResearch and clinical trials
Add-on sotatercept reduced serious events in high-risk PAH in a phase 3 trial
The trial included 172 PAH patients at high risk of death.
Peer-reviewed publicationPAH
USANew treatments and approvals
Fitusiran approved in the USA for hemophilia A and B
The FDA has approved fitusiran to prevent bleeding in patients with hemophilia A or B.
Official drug approvalHemophilia
TürkiyeResearch and clinical trials
Childhood glaucoma in Sturge-Weber syndrome: surgical results in 22 eyes from Türkiye
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
Peer-reviewed publicationSturge-Weber
USANew treatments and approvals
Diazoxide choline approved in the USA for excessive hunger in Prader-Willi syndrome
On March 26, 2025, the US Food and Drug Administration (FDA) approved diazoxide choline tablets for excessive hunger in Prader-Willi syndrome.
Official drug approvalPrader-Willi
TürkiyeSGK and reimbursement
16 drugs added to SGK reimbursement list, including one for a genetic nerve disease
With an amendment to the Sağlık Uygulama Tebliği (SUT, Health Implementation Communiqué), 16 drugs were added to the SGK (Social Security Institution) reimbursement list.
Official statement or regulation
TürkiyeResearch and clinical trials
In Türkiye, enzyme therapy improved blood values and shrank the spleen in 29 patients with Gaucher disease
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
Peer-reviewed publicationGaucher
TürkiyeResearch and clinical trials
Stem cell transplantation in 17 children with MPS VI in Antalya: all engrafted, enzyme levels normalized
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.
Peer-reviewed publicationMaroteaux-Lamy
TürkiyeResearch and clinical trials
National health records: NMOSD affects about 2 in 100,000 people in Türkiye
The ministry's national health records were searched.
Peer-reviewed publicationNMOSD
USANew treatments and approvals
Revakinagene taroretcel, an implanted cell therapy for MacTel type 2, approved
The FDA has approved revakinagene taroretcel for macular telangiectasia type 2.
Official drug approvalMacTel
EUNew treatments and approvals
Once-monthly eplontersen injection approved in the EU for nerve damage in hereditary TTR amyloidosis
The European Commission approved eplontersen for hereditary TTR amyloidosis.
Official drug approvalATTRv amyloidosis
United KingdomResearch and clinical trials
Data from England: in pyruvate kinase deficiency, the risk of death is five times higher than in peers
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
Peer-reviewed publicationPK deficiency
TürkiyeResearch and clinical trials
Hemophilia gene therapy in Türkiye: 46 patients treated in clinical trials
According to the Federation of Hemophilia Associations, 46 hemophilia patients in Türkiye received gene therapy in clinical trials.
News reportHemophilia
TürkiyeResearch and clinical trials
Long-term outcomes of 50 patients with propionic acidemia from Hacettepe
Hacettepe University studied 50 patients diagnosed between 1984 and 2020.
Peer-reviewed publicationPropionic acidemia
EUNew treatments and approvals
Conditional EU approval for belzutifan for tumors linked to von Hippel-Lindau disease
The EU granted conditional approval to belzutifan, which is taken by mouth.
Official drug approvalVHL
USANew treatments and approvals
Mirdametinib approved in the USA for NF1-related plexiform neurofibromas
The US drug agency (FDA) has approved oral mirdametinib for patients with NF1.
Official drug approvalNF1
EuropeResearch and clinical trials
International study of 658 patients with ARPKD: a score predicting kidney risk at two months of age developed
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
Peer-reviewed publicationARPKD
EuropeResearch and clinical trials
Blood pressure drug irbesartan reduced vascular events over two years in vascular EDS
Irbesartan was tested in a trial with 57 adults with vascular EDS.
Peer-reviewed publicationVascular EDS