USAResearch and clinical trials
Intravenous trehalose did not slow ALS in a phase 2/3 study
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
Peer-reviewed publicationALS
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 8/9
GlobalResearch and clinical trials
Oral iptacopan in PNH: final 48-week results of two phase 3 studies published
In two phase 3 studies, adults with PNH took oral iptacopan for 48 weeks.
Peer-reviewed publicationPNH
USAResearch and clinical trials
Bevacizumab in NF2: greater shrinkage seen in nerve tumors other than those of the hearing nerve
In the USA, bevacizumab was given for two years to patients with NF2.
Peer-reviewed publicationNF2
SlovakiaDiagnosis and screening
Gene testing in 37 patients in Slovakia: cause found in one third with Pendred syndrome or a widened inner ear canal
In Slovakia, 37 patients with a widened inner ear canal or Pendred syndrome were studied.
Peer-reviewed publicationPendred
GlobalHealth policy
World Health Assembly unanimously adopts its first resolution on rare diseases
The 78th World Health Assembly, led by Egypt and Spain, adopted the first resolution recognizing rare diseases as a global health priority.
Official statement or regulation
USAResearch and clinical trials
Positive early results reported in the first patient treated with prime editing
The first patient with chronic granulomatous disease received an experimental treatment coded PM359, in which a gene error in the patient's own stem cells was corrected with prime editing.
Preliminary resultCGD
EuropeResearch and clinical trials
In pulmonary sarcoidosis, methotrexate was not inferior to prednisone as first treatment
A study comparing first treatment options in pulmonary sarcoidosis has been published.
Peer-reviewed publicationSarcoidosis
USAResearch and clinical trials
Gene-editing therapy custom-designed for a single baby used for the first time
In the USA, a baby named KJ with severe CPS1 deficiency received an individualized base-editing therapy.
Peer-reviewed publicationCPS1 deficiency
EUDiagnosis and screening
Europe's Screen4Care project sets a 245-gene list for newborn genetic screening
The EU-funded Screen4Care project published the 245-gene TREAT panel, to be used in newborn genetic screening, in the Orphanet Journal of Rare Diseases.
Peer-reviewed publication
JapanNew treatments and approvals
Japan grants conditional approval to DMD gene therapy delandistrogene moxeparvovec
Japan's Ministry of Health has conditionally approved delandistrogene moxeparvovec, for a limited time, for children with DMD.
Official drug approvalDMD
USANew treatments and approvals
Prademagene zamikeracel receives FDA approval for wounds in butterfly skin disease (RDEB)
The FDA has approved prademagene zamikeracel for wounds in patients with recessive dystrophic epidermolysis bullosa.
Official drug approvalEB
EgyptResearch and clinical trials
87 children with Glanzmann thrombasthenia in Egypt: in more than half, the parents are related
In Egypt, 87 children with Glanzmann thrombasthenia from several centers were studied.
Peer-reviewed publicationGlanzmann
ThailandResearch and clinical trials
Ablation reduced dangerous rhythm episodes in Brugada syndrome
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
Peer-reviewed publicationBrugada
EUNew treatments and approvals
Positive opinion in the EU for subcutaneous efgartigimod for CIDP
The European Medicines Agency's scientific committee, the CHMP, issued a positive opinion on April 25, 2025.
Official drug approvalCIDP
EuropeResearch and clinical trials
Stem cell gene therapy in MLD: long-term benefit in children treated before symptoms began
Long-term results of atidarsagene autotemcel, a stem cell gene therapy for metachromatic leukodystrophy, have been published.
Peer-reviewed publicationMLD
EUNew treatments and approvals
EU approves a gene therapy gel applied to wounds in dystrophic butterfly skin disease
The European Commission approved beremagene geperpavec for wounds in dystrophic butterfly skin disease (dystrophic epidermolysis bullosa).
Official drug approvalEB
USAResearch and clinical trials
Intensive care data in babies with Treacher Collins syndrome: 103 babies studied
Intensive care records from children's hospitals in the USA were reviewed.
Peer-reviewed publicationTreacher Collins
GlobalResearch and clinical trials
Add-on sotatercept reduced serious events in high-risk PAH in a phase 3 trial
The trial included 172 PAH patients at high risk of death.
Peer-reviewed publicationPAH
USANew treatments and approvals
Fitusiran approved in the USA for hemophilia A and B
The FDA has approved fitusiran to prevent bleeding in patients with hemophilia A or B.
Official drug approvalHemophilia
USANew treatments and approvals
Diazoxide choline approved in the USA for excessive hunger in Prader-Willi syndrome
On March 26, 2025, the US Food and Drug Administration (FDA) approved diazoxide choline tablets for excessive hunger in Prader-Willi syndrome.
Official drug approvalPrader-Willi