Rare Diseases
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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TürkiyeResearch and clinical trials
In the Marmara Region, 9 pediatric metabolic centers studied children with mitochondrial disease.
TürkiyeResearch and clinical trials
In Izmir, 39 children with very high LDL cholesterol were studied.
ChinaResearch and clinical trials
In China, a six-month drug trial was carried out with 34 children with fragile X syndrome.
TürkiyeResearch and clinical trials
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
JapanResearch and clinical trials
In Japan, the records of 91 genetically diagnosed patients with Kennedy disease were studied.
GlobalResearch and clinical trials
In the international LAL deficiency registry, 29 patients with the severe form starting in infancy were studied.
TürkiyeResearch and clinical trials
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
TürkiyeResearch and clinical trials
In Istanbul, 25 patients were tested with a multigene panel.
TürkiyeResearch and clinical trials
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
TürkiyeResearch and clinical trials
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
USAResearch and clinical trials
Researchers in the USA prepared separate growth charts for children with Smith-Magenis syndrome.
USA and United KingdomResearch and clinical trials
Long-term results of stem cell gene therapy for severe combined immunodeficiency due to ADA deficiency have been published.
GlobalResearch and clinical trials
In the phase 3 trial, 40 adults received venglustat and 19 adults received placebo.
TürkiyeResearch and clinical trials
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
TürkiyeResearch and clinical trials
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.
GlobalResearch and clinical trials
An international group of experts reviewed published studies on isovaleric acidemia.
ChinaResearch and clinical trials
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed.
GlobalResearch and clinical trials
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
TürkiyeResearch and clinical trials
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
TürkiyeResearch and clinical trials
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome.