Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
190 updates · page 9/10
GlobalResearch and clinical trials
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
TürkiyeResearch and clinical trials
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed.
USAResearch and clinical trials
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
TürkiyeResearch and clinical trials
Çukurova University studied 51 cystinosis patients with brain, nerve and hearing tests.
GlobalResearch and clinical trials
In two phase 3 studies, adults with PNH took oral iptacopan for 48 weeks.
USAResearch and clinical trials
In the USA, bevacizumab was given for two years to patients with NF2.
TürkiyeResearch and clinical trials
Pediatric endocrinology centers in Türkiye studied 69 children with Silver-Russell syndrome.
EuropeResearch and clinical trials
A study comparing first treatment options in pulmonary sarcoidosis has been published.
USAResearch and clinical trials
In the USA, a baby named KJ with severe CPS1 deficiency received an individualized base-editing therapy.
TürkiyeResearch and clinical trials
The records of 187 CTEPH patients from eight specialist centers in Türkiye were reviewed.
EgyptResearch and clinical trials
In Egypt, 87 children with Glanzmann thrombasthenia from several centers were studied.
ThailandResearch and clinical trials
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
EuropeResearch and clinical trials
Long-term results of atidarsagene autotemcel, a stem cell gene therapy for metachromatic leukodystrophy, have been published.
TürkiyeResearch and clinical trials
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
USAResearch and clinical trials
Intensive care records from children's hospitals in the USA were reviewed.
TürkiyeResearch and clinical trials
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
GlobalResearch and clinical trials
The trial included 172 PAH patients at high risk of death.
TürkiyeResearch and clinical trials
Eye doctors from Türkiye and Egypt studied children with raised eye pressure due to Sturge-Weber syndrome.
TürkiyeResearch and clinical trials
Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed.
TürkiyeResearch and clinical trials
Results of stem cell transplantation in children diagnosed with MPS VI at a center in Antalya have been published.