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 4/9
InternationalResearch and clinical trials
Results of a phase 3 study of denecimig, given under the skin, in hemophilia A have been published.
GlobalResearch and clinical trials
Final results for the enzyme therapy olipudase alfa in adults with acid sphingomyelinase deficiency have been published.
USANew treatments and approvals
The US Food and Drug Administration approved the first gene therapy for severe hearing loss caused by the OTOF gene.
InternationalResearch and clinical trials
The NIMBLE study, published in The Lancet, examined cemdisiran in myasthenia gravis.
GlobalResearch and clinical trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
GlobalResearch and clinical trials
In Australia, a drug was injected into 12 eyes of 6 people with advanced RP.
USAResearch and clinical trials
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
GlobalResearch and clinical trials
The phase 3 program included 196 patients from 22 countries.
USANew treatments and approvals
The FDA has approved marnetegragene autotemcel for severe leukocyte adhesion deficiency type I.
GlobalResearch and clinical trials
The phase 3 trial included 270 people aged 2 to 55 years, and half received the drug and half received placebo.
EUNew treatments and approvals
On March 26, 2026, the European Commission approved a medicine containing doxecitine and doxribtimine for TK2 deficiency.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved tividenofusp alfa for children with Hunter syndrome (MPS II).
EuropeResearch and clinical trials
The European Alliance of Associations for Rheumatology (EULAR) updated its treatment recommendations for Behçet's disease.
USA and United KingdomResearch and clinical trials
The drug is given into the spinal fluid through an injection in the lower back.
GlobalHealth policy
Rare Disease Day on February 28, 2026, was marked under the theme 'More than you can imagine', coordinated by EURORDIS.
FranceResearch and clinical trials
In France, the interval of enzyme therapy was studied in patients with stable type 1 Gaucher disease.
USANew treatments and approvals
The FDA granted accelerated approval to the drug navepegritide on February 27, 2026.
USANew treatments and approvals
The US Food and Drug Administration (FDA) approved pegzilarginase for arginase 1 deficiency.
GlobalDiagnosis and screening
DeepRare, an artificial intelligence system developed by researchers in Shanghai, was published in Nature.
USAResearch and clinical trials
In an early-stage study in the USA, 6 adults received gene therapy using their own stem cells.