TürkiyeResearch and clinical trials
Attacks in children with FMF rose temporarily after the 2023 earthquake
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
Peer-reviewed publicationFMF
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 6/16
TürkiyeDiagnosis and screening
10 patients with FOP at Hacettepe: four had a potentially harmful biopsy before diagnosis
Hacettepe University studied 10 patients diagnosed with FOP.
Peer-reviewed publicationFOP
InternationalResearch and clinical trials
Denecimig under the skin once a week or once a month reduced bleeding in hemophilia A in a phase 3 study
Results of a phase 3 study of denecimig, given under the skin, in hemophilia A have been published.
Peer-reviewed publicationHemophilia
GlobalResearch and clinical trials
Olipudase alfa in adults with ASMD: spleen and liver shrinkage continued over up to five years
Final results for the enzyme therapy olipudase alfa in adults with acid sphingomyelinase deficiency have been published.
Peer-reviewed publicationNiemann-Pick A/B
TürkiyeResearch and clinical trials
31 children with limb-girdle muscular dystrophy at Çukurova: calpainopathy was the most common type
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
Peer-reviewed publicationLGMD
USANew treatments and approvals
Lunsotogene parvec approved in the USA as the first gene therapy for congenital deafness caused by the OTOF gene
The US Food and Drug Administration approved the first gene therapy for severe hearing loss caused by the OTOF gene.
Official drug approvalOTOF
InternationalResearch and clinical trials
Cemdisiran, given every three months, reduced myasthenia gravis symptoms in a phase 3 trial
The NIMBLE study, published in The Lancet, examined cemdisiran in myasthenia gravis.
Peer-reviewed publicationMG
GlobalResearch and clinical trials
In Alagille syndrome, maralixibat reduced fatty skin deposits in a pooled analysis of two trials
Fatty deposits in the skin were studied in children with Alagille syndrome.
Peer-reviewed publicationAlagille
GlobalResearch and clinical trials
Light-sensitive molecule tested in the eye for the first time in 6 people with advanced retinitis pigmentosa
In Australia, a drug was injected into 12 eyes of 6 people with advanced RP.
Peer-reviewed publicationRetinitis (RP)
TürkiyeResearch and clinical trials
51 children of Turkish origin with CAPS living in Türkiye and Germany compared
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
Peer-reviewed publicationCAPS
USAResearch and clinical trials
Experimental gene therapy given into the brain fluid in Hurler syndrome: one child followed for 5 years
In the USA, a 20-month-old boy with Hurler syndrome received an experimental gene therapy.
Peer-reviewed publicationMPS I
TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan
TürkiyeSGK and reimbursement
SGK adds a drug that prevents hereditary angioedema attacks to reimbursement
On April 8, 2026, a drug that prevents attacks in hereditary angioedema was added to SGK (Social Security Institution) reimbursement coverage.
News reportHAE
TürkiyeDiagnosis and screening
Hearing screening of newborns with biotinidase deficiency in Konya was the same as in healthy babies
Babies found to have biotinidase deficiency through newborn screening in Konya were studied.
Peer-reviewed publicationBiotinidase deficiency
TürkiyeDiagnosis and screening
In Wilson disease, a diagnostic delay of more than one year was linked to a worse course
A study from Kayseri City Hospital examined diagnostic delay in Wilson disease.
Peer-reviewed publicationWilson
GlobalResearch and clinical trials
Efzimfotase alfa in hypophosphatasia: positive in children, main goal not met in adolescents and adults
The phase 3 program included 196 patients from 22 countries.
Preliminary resultHypophosphatasia
TürkiyeResearch and clinical trials
4,914 pregnancies in women with systemic sclerosis studied across Türkiye: miscarriage risk was higher
Under the supervision of the Ministry of Health, pregnancy outcomes of women with systemic sclerosis across Türkiye were studied.
Peer-reviewed publicationSystemic sclerosis
USANew treatments and approvals
Marnetegragene autotemcel receives FDA approval for severe LAD-I immunodeficiency
The FDA has approved marnetegragene autotemcel for severe leukocyte adhesion deficiency type I.
Official drug approvalLAD-I
GlobalResearch and clinical trials
Soticlestat did not reduce drop seizures in Lennox-Gastaut syndrome in a phase 3 trial
The phase 3 trial included 270 people aged 2 to 55 years, and half received the drug and half received placebo.
Peer-reviewed publicationLennox-Gastaut
TürkiyeResearch and clinical trials
53 patients with early fusion of skull bones in Istanbul: Apert syndrome takes a more severe course
A center in Istanbul studied syndromes in which the skull bones fuse early.
Peer-reviewed publicationApert