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
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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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
TürkiyeResearch and clinical trials
Growth hormone response in 69 children with Silver-Russell syndrome: a multicenter study in Türkiye
Pediatric endocrinology centers in Türkiye studied 69 children with Silver-Russell syndrome.
Peer-reviewed publicationSilver-Russell
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
TürkiyeDiagnosis and screening
Simple diagnostic score based on three findings developed for biliary atresia in Malatya
At İnönü University, the records of 70 babies with jaundice were reviewed.
Peer-reviewed publicationBiliary atresia
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
TürkiyeResearch and clinical trials
187 CTEPH patients from 8 centers in Türkiye: other conditions often affect the surgery decision
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
Peer-reviewed publicationCTEPH
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
TürkiyeDiagnosis and screening
Causes of jaundice in 378 babies in Ankara: inherited diseases such as PFIC account for a significant share
Two pediatric gastroenterology centers in Ankara studied prolonged newborn jaundice.
Peer-reviewed publicationPFIC
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
TürkiyeResearch and clinical trials
29 children with congenital nephrotic syndrome in Ankara: kidney removal reduced the burden in selected patients
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
Peer-reviewed publicationFinnish-type nephrotic