ChinaResearch and clinical trials
Metformin trial in fragile X syndrome did not meet its main goal
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
Peer-reviewed publicationFragile X
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 8/12
GlobalDiagnosis and screening
AI model popEVE ranks harmful gene changes in rare disease diagnosis
Researchers from Harvard Medical School and the CRG in Barcelona introduced popEVE, an artificial intelligence model that uses evolutionary data, in Nature Genetics.
Peer-reviewed publication
TürkiyeResearch and clinical trials
6 patients with ichthyosis from Rize and Istanbul: the skin disease may also affect immunity
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
Peer-reviewed publicationCongenital ichthyosis
JapanResearch and clinical trials
Real-world data from 91 patients with Kennedy disease in Japan: leuprorelin slowed progression
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
Peer-reviewed publicationKennedy disease
GlobalResearch and clinical trials
Enzyme therapy in infant-onset LAL deficiency: 27 of 29 babies in the registry are alive
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
Peer-reviewed publicationLAL deficiency
TürkiyeResearch and clinical trials
24 children with myotonic dystrophy in Ankara: fatigue and learning difficulties are very common
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
Peer-reviewed publicationMyotonic dystrophy
TürkiyeResearch and clinical trials
Türkiye's largest Bardet-Biedl series: a genetic cause found in all 25 patients
In Istanbul, 25 patients were tested with a multigene panel.
Peer-reviewed publicationBardet-Biedl
TürkiyeDiagnosis and screening
Ege University: a simple scoring system can point to FCS where genetic testing is unavailable
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
Peer-reviewed publicationFCS
TürkiyeResearch and clinical trials
Low-dose ACTH for infantile spasms in Istanbul: heart changes without symptoms were seen
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
Peer-reviewed publicationWest syndrome
TürkiyeResearch and clinical trials
131 pregnancies of 54 women with Wilson disease studied in Istanbul: three quarters ended in live birth
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
Peer-reviewed publicationWilson
USAResearch and clinical trials
First growth charts published for Smith-Magenis syndrome
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
Peer-reviewed publicationSmith-Magenis
USA and United KingdomResearch and clinical trials
Gene therapy for SCID due to ADA deficiency: no deaths among 62 patients over a median 7.5 years
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
Peer-reviewed publicationSCID
GlobalResearch and clinical trials
Venglustat phase 3 in late-onset Tay-Sachs and Sandhoff disease: no clinical benefit seen
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
Peer-reviewed publicationTay-Sachs, Sandhoff
TürkiyeResearch and clinical trials
Usher syndrome in Türkiye: type 1 and type 2 seen at almost equal rates
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
Peer-reviewed publicationUsher syndrome
TürkiyeResearch and clinical trials
Survey on childhood Still's disease in Türkiye: no child was diagnosed at the first visit
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.
Peer-reviewed publicationSystemic JIA
TürkiyeDiagnosis and screening
Gene changes possibly linked to the disease found in 12 of 30 adults with CVID in Istanbul
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.
Peer-reviewed publicationCVID
GlobalResearch and clinical trials
Experts publish 15 recommendations for diagnosis and care in isovaleric acidemia
An international group of experts reviewed published studies on isovaleric acidemia.
Peer-reviewed publicationIsovaleric acidemia
ChinaResearch and clinical trials
28 ASA patients in China: liver transplant corrected ammonia but did not prevent developmental delay
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed.
Peer-reviewed publicationASA
GlobalResearch and clinical trials
Pregnancy in Bartter and Gitelman syndromes: published cases reviewed
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
Peer-reviewed publicationBartter
TürkiyeResearch and clinical trials
12 patients with primary carnitine deficiency from Türkiye: the most common finding was heart muscle disease
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
Peer-reviewed publicationCarnitine deficiency