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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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JapanDiagnosis and screening
Japan tests newborn screening to detect urea cycle disorders such as OTC deficiency
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening.
Peer-reviewed publicationOTC deficiency
GlobalResearch and clinical trials
Intravenous dapirolizumab pegol reduced disease activity in lupus in a phase 3 trial
The trial was conducted in 25 countries with 321 patients with moderate or severe lupus.
Peer-reviewed publicationLupus (SLE)
GlobalDiagnosis and screening
International consensus guideline published for eye imaging in VKH disease
A panel of international eye specialists prepared an imaging guideline for VKH.
Peer-reviewed publicationVKH disease
EuropeResearch and clinical trials
In CIDP, adding high-dose intravenous steroids to IVIg did not significantly improve recovery
In a study conducted in Europe, patients with CIDP were given high-dose steroids or placebo along with IVIg.
Peer-reviewed publicationCIDP
IsraelResearch and clinical trials
Treating anxiety and depression in Williams syndrome: improvement in most in a 14-person series
In Israel, the records of 14 people with Williams syndrome taking medication for anxiety or depression were reviewed.
Peer-reviewed publicationWilliams
GlobalResearch and clinical trials
Gene therapy in choroideremia: a pooled analysis of 11 studies shows a small gain in vision
A total of 11 studies examining gene therapy given into the eye in choroideremia were evaluated together.
Peer-reviewed publicationChoroideremia
InternationalResearch and clinical trials
Denecimig under the skin once a week or once a month reduced bleeding in hemophilia A in a phase 3 study
Results of a phase 3 study of denecimig, given under the skin, in hemophilia A have been published.
Peer-reviewed publicationHemophilia
GlobalResearch and clinical trials
Olipudase alfa in adults with ASMD: spleen and liver shrinkage continued over up to five years
Final results for the enzyme therapy olipudase alfa in adults with acid sphingomyelinase deficiency have been published.
Peer-reviewed publicationNiemann-Pick A/B
InternationalResearch and clinical trials
Cemdisiran, given every three months, reduced myasthenia gravis symptoms in a phase 3 trial
The NIMBLE study, published in The Lancet, examined cemdisiran in myasthenia gravis.
Peer-reviewed publicationMG
GlobalResearch and clinical trials
In Alagille syndrome, maralixibat reduced fatty skin deposits in a pooled analysis of two trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
Peer-reviewed publicationAlagille
GlobalResearch and clinical trials
Light-sensitive molecule tested in the eye for the first time in 6 people with advanced retinitis pigmentosa
In Australia, a drug was injected into 12 eyes of 6 people with advanced RP.
Peer-reviewed publicationRetinitis (RP)
USAResearch and clinical trials
Experimental gene therapy given into the brain fluid in Hurler syndrome: one child followed for 5 years
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
Peer-reviewed publicationMPS I
GlobalResearch and clinical trials
Soticlestat did not reduce drop seizures in Lennox-Gastaut syndrome in a phase 3 trial
The phase 3 trial included 270 people aged 2 to 55 years, and half received the drug and half received placebo.
Peer-reviewed publicationLennox-Gastaut
EuropeResearch and clinical trials
European treatment recommendations for Behçet's disease updated
The European Alliance of Associations for Rheumatology (EULAR) updated its treatment recommendations for Behçet's disease.
Peer-reviewed publicationBehçet
USA and United KingdomResearch and clinical trials
Experimental zorevunersen reduced seizures in Dravet syndrome in early-stage studies
The drug is given into the spinal fluid through an injection in the lower back.
Peer-reviewed publicationDravet syndrome
FranceResearch and clinical trials
Enzyme therapy every 3-4 weeks may be enough for patients with stable Gaucher disease
In France, the interval of enzyme therapy was studied in patients with stable type 1 Gaucher disease.
Peer-reviewed publicationGaucher
GlobalDiagnosis and screening
DeepRare AI system offers reasoned suggestions for rare disease diagnosis
DeepRare, an artificial intelligence system developed by researchers in Shanghai, was published in Nature.
Peer-reviewed publication
USAResearch and clinical trials
Stem cell gene therapy for cystinosis: first results published in 6 adults
In an early-stage study in the USA, 6 adults received gene therapy using their own stem cells.
Peer-reviewed publicationCystinosis
USAResearch and clinical trials
Single-dose gene therapy tested in 9 children with GM1 gangliosidosis type II
In the USA, 9 children with type II GM1 gangliosidosis were given a single dose of gene therapy into a vein.
Peer-reviewed publicationGM1