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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
106 updates · page 2/6
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
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
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
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
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
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
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
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
InternationalResearch and clinical trials
One-time gene editing treatment reduced hereditary angioedema attacks in a phase 3 trial
The HAELO study, published in NEJM, examined lonvoguran ziclumeran in hereditary angioedema.
Peer-reviewed publicationHAE
ChinaResearch and clinical trials
Single-dose gene therapy into the eye found safe in 12 children with X-linked retinoschisis
In China, 12 patients aged 5 to 18 received gene therapy in one eye.
Peer-reviewed publicationRetinoschisis
InternationalResearch and clinical trials
International expert recommendations published for crises in maple syrup urine disease
Eight expert physicians prepared a roadmap for sudden crises in maple syrup urine disease.
Peer-reviewed publicationMSUD