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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
172 updates · page 2/9
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
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
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
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
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
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
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