Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
203 updates · page 9/11
TürkiyeResearch and clinical trials
Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis.
TürkiyeResearch and clinical trials
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
USAResearch and clinical trials
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
TürkiyeResearch and clinical trials
In Türkiye, 215 patients from 19 hematology centers were enrolled in the registry.
TürkiyeResearch and clinical trials
Genetics centers in Türkiye studied 32 people with hypohidrotic ectodermal dysplasia.
TürkiyeResearch and clinical trials
Doctors from many provinces of Türkiye studied GPA patients whose disease started with joint inflammation.
GlobalResearch and clinical trials
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
USAResearch and clinical trials
The Chan Zuckerberg Initiative and the Innovative Genomics Institute announced that they have set up a new center.
GlobalResearch and clinical trials
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
USAResearch and clinical trials
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
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.
USAResearch and clinical trials
The first patient with chronic granulomatous disease received an experimental treatment coded PM359, in which a gene error in the patient's own stem cells was corrected with prime editing.
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.