TürkiyeResearch and clinical trials
51 cystinosis patients in Çukurova: nervous system involvement in one in two patients
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
Peer-reviewed publicationCystinosis
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
235 updates · page 11/12
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
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
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
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
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
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
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
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
TürkiyeResearch and clinical trials
Long-term follow-up of 491 children with retinoblastoma at Hacettepe: 13 developed a second cancer
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
Peer-reviewed publicationRetinoblastoma
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
TürkiyeResearch and clinical trials
Childhood glaucoma in Sturge-Weber syndrome: surgical results in 22 eyes from Türkiye
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
Peer-reviewed publicationSturge-Weber
TürkiyeResearch and clinical trials
In Türkiye, enzyme therapy improved blood values and shrank the spleen in 29 patients with Gaucher disease
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
Peer-reviewed publicationGaucher