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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
203 updates · page 2/11
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
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
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
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
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
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