USAResearch and clinical trials
Oral gildeuretinol in Stargardt disease: growth of retinal damage slowed slightly in a two-year study
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
Peer-reviewed publicationStargardt
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 2/16
TürkiyeResearch and clinical trials
40 infants with infantile spasms in Ankara: oral cortisone and ACTH gave similar results
Gazi University studied 40 infants with infantile spasms.
Peer-reviewed publicationWest syndrome
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
GlobalResearch and clinical trials
Data on the first 74 patients published from an international study following the course of Leigh syndrome
People with Leigh syndrome are followed regularly at five centers, every 3-6 months.
Peer-reviewed publicationLeigh syndrome
TürkiyeResearch and clinical trials
95 adults with CVID in Konya: one third have a hormone gland disease
A total of 95 adults with CVID followed in Konya were studied.
Peer-reviewed publicationCVID
TürkiyeResearch and clinical trials
Congenital myasthenic syndrome in 133 children from 28 centers in Türkiye: diagnosis delayed by 2 years on average
In Türkiye, 133 children from 28 centers were studied.
Peer-reviewed publicationCongenital myasthenia
EUNew treatments and approvals
Trofinetide approved in the EU for behavioral symptoms of Rett syndrome
On August 20, 2026, the European Commission approved trofinetide for Rett syndrome.
Official drug approvalRett
USANew treatments and approvals
Accelerated approval for pariglasgene brecaparvovec, first gene therapy for GSD type Ia
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
Official drug approvalGSD Ia
USAResearch and clinical trials
Intravenous arginine showed no benefit for sickle cell pain crises in a phase 3 trial
The STArT study, published in JAMA, examined arginine in sickle cell pain crises.
Peer-reviewed publicationSickle cell
TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
Peer-reviewed publicationSotos
TürkiyeResearch and clinical trials
Valve as a second operation in congenital glaucoma: success declined markedly over 5 years in Ankara
Gazi University studied the eyes of 27 children.
Peer-reviewed publicationCongenital glaucoma
TürkiyeDiagnosis and screening
In Istanbul, combined genetic tests confirmed 121 diagnoses among 135 people referred with suspected FSHD
At a center in Istanbul, 135 people were seen with suspected FSHD.
Peer-reviewed publicationFSHD
TürkiyeResearch and clinical trials
11 children with XLA in Elazığ: diagnosed at a median age of 4.5 years, with fewer infections on treatment
Long-term records of children with X-linked agammaglobulinemia were reviewed at Fırat University in Elazığ.
Peer-reviewed publicationXLA (Bruton)
USAResearch and clinical trials
Ruxolitinib-based treatment for HLH in children found safe in a small study
In the USA, children with HLH (hemophagocytic lymphohistiocytosis) were given a treatment that includes ruxolitinib taken by mouth.
Peer-reviewed publicationHLH
FranceResearch and clinical trials
In Noonan syndrome, the cholesterol drug simvastatin did not benefit growth in a phase 3 trial
In France, simvastatin was compared with placebo in children with Noonan syndrome.
Peer-reviewed publicationNoonan
TürkiyeDiagnosis and screening
Newborn SMA screening in Türkiye: death rate fell markedly in babies found early
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study.
Peer-reviewed publicationSMA
GlobalResearch and clinical trials
Obinutuzumab beta markedly reduced attacks in NMOSD in a phase 3 study
A total of 91 patients with AQP4 antibodies took part in the study conducted in China.
Peer-reviewed publicationNMOSD
TürkiyeResearch and clinical trials
Bundgaard syndrome diagnosed for the first time in Türkiye
In Diyarbakır, Bundgaard syndrome, an inherited heart rhythm disorder, was identified in a 41-year-old patient who sought care for dizziness and chest pain.
News reportBundgaard
TürkiyeResearch and clinical trials
Simple test tried to measure heart and diabetes risk in 14 children with Bardet-Biedl syndrome in Istanbul
At Istanbul Faculty of Medicine, 14 children were studied.
Peer-reviewed publicationBardet-Biedl
USANew treatments and approvals
Approval letter issued in the USA for oral oveporexton for narcolepsy type 1
The US Food and Drug Administration approved oveporexton tablets in a letter dated August 5, 2026.
Official drug approvalNarcolepsy type 1