TürkiyeDiagnosis and screening
Broad genetic testing in inherited nerve disease: cause found in three quarters of 63 families in Istanbul
Koç University studied 67 people with suspected CMT.
Peer-reviewed publicationCMT
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 3/16
EuropeResearch and clinical trials
Long-term carglumic acid in methylmalonic and propionic acidemia: real-world data from Europe
A total of 58 patients from 34 centers in seven European countries were followed.
Peer-reviewed publicationMMA
GlobalResearch and clinical trials
Once-weekly growth hormone as effective as daily injections in Turner syndrome in a phase 3 trial
Once-weekly growth hormone was tested in girls with Turner syndrome.
Peer-reviewed publicationTurner
TürkiyeDiagnosis and screening
In Istanbul, heel-prick blood for CAH screening is taken later in migrant babies
In Sultanbeyli, Istanbul, the screening of 5,934 babies for CAH (congenital adrenal hyperplasia) over one year was reviewed.
Peer-reviewed publicationCAH
USAResearch and clinical trials
In babies with galactosemia, early speech support was more effective than usual care
Speech and language problems are common in galactosemia.
Peer-reviewed publicationGalactosemia
EuropeResearch and clinical trials
Two-year follow-up in myotonic dystrophy type 1: fat buildup in leg muscles could be measured with MRI
In Belgium, 30 adults with DM1 and 30 healthy people were followed for two years.
Peer-reviewed publicationMyotonic dystrophy
TürkiyeResearch and clinical trials
91 Hirschsprung operations over 17 years in Ankara: most long-term problems resolved without surgery
At a pediatric surgery center in Ankara, 91 patients with Hirschsprung disease were reviewed.
Peer-reviewed publicationHirschsprung
GlobalResearch and clinical trials
Once-daily oral ralinepag reduced the risk of worsening in PAH in a phase 3 study
A total of 687 adults diagnosed with PAH took part in the study.
Peer-reviewed publicationPAH
ChinaResearch and clinical trials
Gene therapy tested in 6 children with infantile-onset Pompe disease
In China, 6 children with infantile-onset Pompe disease were given a single dose of gene therapy.
Peer-reviewed publicationPompe
USAResearch and clinical trials
Carbetocin nasal spray did not reduce overeating in Prader-Willi syndrome in a phase 3 trial
In 175 people with Prader-Willi syndrome, carbetocin given as a nasal spray was compared with placebo.
Peer-reviewed publicationPrader-Willi
GlobalResearch and clinical trials
In Kennedy disease, muscle MRI tracked muscle loss better than walking tests
A total of 26 adults with Kennedy disease were followed with whole-body muscle MRI every six months for up to 18 months.
Peer-reviewed publicationKennedy disease
GlobalResearch and clinical trials
Ampreloxetine for blood pressure drop on standing in MSA: main goal not met, signal in a subgroup
The ampreloxetine trial included 73 people with MSA whose blood pressure drops when they stand up.
Peer-reviewed publicationMSA
EUNew treatments and approvals
Oral nerandomilast approved in the EU for IPF and progressive pulmonary fibrosis
The European Commission approved nerandomilast on July 15, 2026.
Official drug approvalIPF
EuropeResearch and clinical trials
130 PAP patients from Greece, Türkiye and Cyprus: inhaled GM-CSF alone also found effective
The 20-year records of 130 PAP patients from three countries were compared.
Peer-reviewed publicationPAP
United Kingdom and EuropeResearch and clinical trials
In adults with brittle bone disease, two-drug treatment increased bone density but did not reduce fractures
The TOPaZ study, published in JAMA, tested two drugs together in adults with brittle bone disease.
Peer-reviewed publicationOI
TürkiyeResearch and clinical trials
In Izmir, cornea models made from cells of patients with aniridia; two drugs tested in the lab
Researchers in Izmir produced small cornea models from the cells of patients with aniridia.
Peer-reviewed publicationAniridia
GlobalResearch and clinical trials
Recombinant von Willebrand factor found effective and safe for up to four years in children with severe VWD
A phase 3 study was carried out with 25 children with severe von Willebrand disease.
Peer-reviewed publicationvon Willebrand
TürkiyeDiagnosis and screening
18 children with Dravet syndrome in Istanbul: when genetic diagnosis was delayed, some drugs increased seizures
At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing.
Peer-reviewed publicationDravet syndrome
TürkiyeDiagnosis and screening
Fabry screening of dialysis patients in Ankara: one patient led to 6 carriers in the family
In Ankara, 1,359 patients at 8 dialysis centers had a gene test for Fabry disease.
Peer-reviewed publicationFabry
TürkiyeResearch and clinical trials
Gene therapy given to a patient with severe hemophilia B at Gaziantep University
A patient diagnosed with severe hemophilia B received gene therapy at Gaziantep University Hospital.
News reportHemophilia