Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
312 updates · page 7/16
EUNew treatments and approvals
On March 26, 2026, the European Commission approved a medicine containing doxecitine and doxribtimine for TK2 deficiency.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved tividenofusp alfa for children with Hunter syndrome (MPS II).
EuropeResearch and clinical trials
The European Alliance of Associations for Rheumatology (EULAR) updated its treatment recommendations for Behçet's disease.
TürkiyeResearch and clinical trials
Ear, nose, and throat doctors at Hacettepe University studied the inner ear of patients with CHARGE syndrome.
TürkiyeResearch and clinical trials
In Türkiye, 12 centers jointly studied 69 patients from 52 families.
TürkiyeDiagnosis and screening
A total of 104 patients followed for suspected FMF, but whose genetic test did not confirm it, were screened with a urine test during abdominal pain.
TürkiyeDiagnosis and screening
At Ankara Etlik City Hospital, 9 patients with hereditary fructose intolerance were studied.
TürkiyeResearch and clinical trials
Çanakkale Onsekiz Mart University reported five patients diagnosed with LAM over the past two years.
TürkiyeResearch and clinical trials
In Samsun, the records of 69 children diagnosed with Behçet's disease were reviewed.
TürkiyeResearch and clinical trials
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.
USA and United KingdomResearch and clinical trials
The drug is given into the spinal fluid through an injection in the lower back.
TürkiyeResearch and clinical trials
At Ankara University, 8 patients with methylmalonic acidemia were followed step by step.
TürkiyeHealth policy
Prof. Dr. Hacer Durmuş Tekçe of the Turkish Neurological Society said that at least 5 million people in Türkiye are affected by rare diseases and that diagnosis can be delayed by 5–8 years.
GlobalHealth policy
Rare Disease Day on February 28, 2026, was marked under the theme 'More than you can imagine', coordinated by EURORDIS.
FranceResearch and clinical trials
In France, the interval of enzyme therapy was studied in patients with stable type 1 Gaucher disease.
TürkiyeResearch and clinical trials
In the RareBoost project in İzmir, 70 patients were diagnosed in about 2.5 years.
TürkiyeDiagnosis and screening
A laboratory study in Ankara examined factors that affect the result of biotinidase screening.
TürkiyeResearch and clinical trials
In Erzincan, face-to-face interviews were held with adults with retinitis pigmentosa.
USANew treatments and approvals
The FDA granted accelerated approval to the drug navepegritide on February 27, 2026.
USANew treatments and approvals
The US Food and Drug Administration (FDA) approved pegzilarginase for arginase 1 deficiency.