USAResearch and clinical trials
Oral bitopertin did not correct anemia in DBA in a first study
In the USA, bitopertin was tested in 15 adults with DBA who did not respond to cortisone.
Peer-reviewed publicationDiamond-Blackfan
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 4/16
TürkiyeResearch and clinical trials
Pulmonary artery surgery in 6 children with CTEPH in Istanbul: pressure fell markedly
At Marmara University, 6 patients under 18 years of age underwent 7 operations between 2011–2025.
Peer-reviewed publicationCTEPH
EuropeResearch and clinical trials
In France, gene therapy delivered to the brain improved movement in 6 children with AADC deficiency
In France, six patients with AADC deficiency received gene therapy delivered to both sides of the brain.
Peer-reviewed publicationAADC deficiency
USANew treatments and approvals
US approval of a sickle cell and thalassemia gene therapy extended to children over 2 years
On July 1, 2026, the US Food and Drug Administration (FDA) approved exagamglogene autotemcel for children over 2 years of age.
Official drug approvalSickle cell, Thalassemia
TürkiyeResearch and clinical trials
Primary hyperoxaluria in 88 children from 15 centers in Türkiye: kidney loss is common when diagnosis is late
In Türkiye, pediatric kidney doctors studied children with primary hyperoxaluria in a national registry.
Peer-reviewed publicationPH1
EUNew treatments and approvals
EU approves single-dose gene therapy into the spinal fluid for SMA patients aged 2 years and older
The European Commission approved onasemnogene abeparvovec, given into the spinal fluid, for spinal muscular atrophy.
Official drug approvalSMA
TürkiyeResearch and clinical trials
134 adults with PKU found through newborn screening in Istanbul: those who manage their own diet do better
A total of 134 adults with phenylketonuria followed at Istanbul Faculty of Medicine were studied.
Peer-reviewed publicationPKU
TürkiyeSGK and reimbursement
Reimbursement criteria for nusinersen and risdiplam in SMA revised
The criteria for the use and reimbursement of nusinersen and risdiplam in SMA treatment have been revised.
Official statement or regulationSMA
AustriaResearch and clinical trials
Omaveloxolone treatment for Friedreich ataxia may raise "bad" cholesterol
In Vienna, 17 adults with Friedreich ataxia who started omaveloxolone treatment were followed for one year.
Peer-reviewed publicationFriedreich ataxia
GlobalResearch and clinical trials
Oral infigratinib increased growth rate in achondroplasia in a phase 3 trial
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.
Peer-reviewed publicationAchondroplasia
EuropeResearch and clinical trials
271 patients with PCD followed in 7 countries: about 80% had at least one flare-up a year
Patients with genetically confirmed primary ciliary dyskinesia from 11 centers in seven countries were followed for one year.
Peer-reviewed publicationPCD
USAResearch and clinical trials
In LCHAD deficiency, patients stuck to a low-fat diet for two years, but vitamin shortfalls persisted
In the USA, the diets of 40 people with LCHAD deficiency were assessed two years apart.
Peer-reviewed publicationLCHAD deficiency
TürkiyeResearch and clinical trials
MPS IVA and VI patients on enzyme therapy in Istanbul: leg findings improved slightly over two years
In Istanbul, 14 MPS patients receiving enzyme therapy were followed for two years.
Peer-reviewed publicationMorquio A
TürkiyeDiagnosis and screening
In Ankara, symptoms were found to vary widely in 14 patients with Niemann-Pick type C
At Ankara City Hospital, 14 patients diagnosed with Niemann-Pick type C were reviewed.
Peer-reviewed publicationNPC
TürkiyeResearch and clinical trials
Moving to adult care in DMD in Türkiye: most patients found the preparation inadequate
In Türkiye, the move of young people with DMD (Duchenne muscular dystrophy) from child neurology to adult neurology was studied.
Peer-reviewed publicationDMD
USAResearch and clinical trials
Experimental gene therapy in Rett syndrome: all of the first 12 patients gained at least one skill
New results were announced for an experimental gene therapy developed for Rett syndrome.
Preliminary resultRett
SwedenResearch and clinical trials
40 years of laboratory data in Sweden: Zellweger spectrum occurs in about one in 74 thousand births
All patients diagnosed with a peroxisomal disorder in Sweden were studied.
Peer-reviewed publicationZellweger
GlobalHealth policy
International expert recommendations published on eye screening in incontinentia pigmenti
An international expert meeting prepared joint recommendations for eye problems in incontinentia pigmenti.
Peer-reviewed publicationIncontinentia pigmenti
GlobalResearch and clinical trials
Life expectancy data in progeria and similar diseases brought together
Researchers from Spain reviewed 169 publications on progeria and similar diseases.
Peer-reviewed publicationProgeria
USAResearch and clinical trials
Experimental sevasemten in Becker muscular dystrophy: well tolerated over 2 years in 12 adults
In the USA, 12 adults with Becker muscular dystrophy took sevasemten, an experimental drug, for 24 months.
Peer-reviewed publicationBecker dystrophy