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
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
203 updates · page 6/11
TürkiyeResearch and clinical trials
Hematologic Rare Diseases Congress: AI may help with early diagnosis
The 9th Hematologic Rare Diseases Congress brought together about 300 scientists.
News report
TürkiyeResearch and clinical trials
10 years of Trisomy 18 and 13 data in Istanbul: some children lived longer
Istanbul's Zeynep Kamil Hospital retrospectively reviewed ten years of records.
Peer-reviewed publicationTrisomy 18
TürkiyeResearch and clinical trials
35 DiGeorge patients from two centers in Izmir: antibody and B cell problems are common
At two centers in Izmir, 35 patients were compared with 20 healthy children.
Peer-reviewed publicationDiGeorge (22q11)
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
United KingdomResearch and clinical trials
Stem cell transplant in chronic granulomatous disease in the long term: high survival, frequent late effects
In London, 42 children who had a stem cell transplant for chronic granulomatous disease were studied.
Peer-reviewed publicationCGD
GlobalResearch and clinical trials
Stem cell transplantation in Morquio A syndrome: three-year survival of 90.5% in 41 patients at 9 centers
An international study pooling the results of stem cell transplantation in Morquio A syndrome has been published.
Peer-reviewed publicationMorquio A
ItalyResearch and clinical trials
Stem cell transplant in Krabbe disease starting in late childhood: all six children are alive
In Italy, six patients with Krabbe disease that began late in childhood received a stem cell transplant.
Peer-reviewed publicationKrabbe
TürkiyeResearch and clinical trials
Eye pigment linked to vision in albinism: a 50-patient study from Ankara
Eye doctors at Ankara University studied the eyes of 50 people with albinism.
Peer-reviewed publicationAlbinism (OCA)
EuropeResearch and clinical trials
89 pregnancies reviewed in women with long-chain fatty acid disorders; most had good outcomes
Pregnancy information on 39 women with a disease in this group was collected from doctors in Europe and North America.
Peer-reviewed publicationVLCAD deficiency
TürkiyeResearch and clinical trials
Eye vessels and retina change in Alport syndrome: a 34-patient study from Ankara
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
Peer-reviewed publicationAlport
GlobalResearch and clinical trials
Global natural history study of 111 patients with CDKL5 deficiency: seizures and sleep problems are very common
The study called CANDID is following 111 children and young people with CDKL5 deficiency.
Peer-reviewed publicationCDKL5 deficiency
TürkiyeResearch and clinical trials
At Hacettepe, 3 children with the same SAMHD1 change showed very different symptoms
The SAMHD1 gene causes one type of Aicardi-Goutières syndrome.
Peer-reviewed publicationAicardi-Goutières
InternationalResearch and clinical trials
Trial of oral branaplam in Huntington's disease stopped early because of nerve side effects
Results of a phase 2 study of branaplam, taken by mouth, in Huntington's disease have been published.
Peer-reviewed publicationHuntington
InternationalResearch and clinical trials
Setrusumab did not significantly reduce fractures in brittle bone disease in two phase 3 trials
Setrusumab, tested in brittle bone disease (osteogenesis imperfecta), did not reach its main goal in two large studies.
Preliminary resultOI
FranceResearch and clinical trials
TRAPS in France's rare disease registry: some registered patients have no gene change
In France, patients with TRAPS in the national rare disease registry were re-examined.
Peer-reviewed publicationTRAPS
TürkiyeResearch and clinical trials
30 children with Pompe disease in Izmir: severe events were less common in those receiving enzyme therapy
Ege University reviewed the records of 30 children with Pompe disease.
Peer-reviewed publicationPompe
TürkiyeResearch and clinical trials
31 patients with Joubert syndrome in Istanbul: genetic cause found in 23 families, 13 new gene changes
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa.
Peer-reviewed publicationJoubert
TürkiyeResearch and clinical trials
48 Turner patients on growth hormone in Diyarbakır: those who started early reached a greater height
In Diyarbakır, 48 Turner patients who received growth hormone and reached their final height were studied.
Peer-reviewed publicationTurner
TürkiyeResearch and clinical trials
17 children with ARPKD in Istanbul: kidneys fail earlier in those with early symptoms
At Marmara University, 17 children diagnosed with ARPKD were studied.
Peer-reviewed publicationARPKD