Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
172 updates · page 7/9
USAResearch and clinical trials
In the USA, early treatment with vigabatrin was tested in babies with tuberous sclerosis.
EuropeResearch and clinical trials
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
USAHealth policy
The US Food and Drug Administration (FDA) announced 'Rare Disease Evidence Principles' for genetic diseases that generally have fewer than 1,000 patients in the USA.
GlobalResearch and clinical trials
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
GlobalResearch and clinical trials
The trial included 164 patients with autoimmune PAP.
FranceResearch and clinical trials
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
USANew treatments and approvals
The FDA approved concizumab, previously approved for patients with inhibitors, also for preventing bleeding in patients aged 12 years and older with hemophilia A and B without inhibitors.
USANew treatments and approvals
The FDA has approved sepiapterin for the treatment of phenylketonuria.
USAResearch and clinical trials
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
EUNew treatments and approvals
The European Commission granted conditional approval to mirdametinib for NF1-related plexiform neurofibromas.
GlobalResearch and clinical trials
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
GlobalDiagnosis and screening
Researchers pooled the results of 41 studies.
USAResearch and clinical trials
The Chan Zuckerberg Initiative and the Innovative Genomics Institute announced that they have set up a new center.
United KingdomHealth policy
The English government's 10-year health plan aims, in the long term, to offer genome sequencing at birth to everyone.
EUNew treatments and approvals
The European Commission has approved the combination vanzacaftor/tezacaftor/deutivacaftor for cystic fibrosis.
GlobalResearch and clinical trials
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
USAResearch and clinical trials
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
GlobalResearch and clinical trials
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
USANew treatments and approvals
The FDA approved nitisinone to reduce homogentisic acid in the urine of adults with alkaptonuria.
EUNew treatments and approvals
The European Commission has granted conditional marketing authorization to givinostat for patients with DMD.