USANew treatments and approvals
Revakinagene taroretcel, an implanted cell therapy for MacTel type 2, approved
The FDA has approved revakinagene taroretcel for macular telangiectasia type 2.
Official drug approvalMacTel
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
172 updates · page 9/9
EUNew treatments and approvals
Once-monthly eplontersen injection approved in the EU for nerve damage in hereditary TTR amyloidosis
The European Commission approved eplontersen for hereditary TTR amyloidosis.
Official drug approvalATTRv amyloidosis
United KingdomResearch and clinical trials
Data from England: in pyruvate kinase deficiency, the risk of death is five times higher than in peers
In England, 89 patients with pyruvate kinase deficiency were identified from health records.
Peer-reviewed publicationPK deficiency
EUNew treatments and approvals
Conditional EU approval for belzutifan for tumors linked to von Hippel-Lindau disease
The EU granted conditional approval to belzutifan, which is taken by mouth.
Official drug approvalVHL
USANew treatments and approvals
Mirdametinib approved in the USA for NF1-related plexiform neurofibromas
The US drug agency (FDA) has approved oral mirdametinib for patients with NF1.
Official drug approvalNF1
EuropeResearch and clinical trials
International study of 658 patients with ARPKD: a score predicting kidney risk at two months of age developed
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
Peer-reviewed publicationARPKD
EuropeResearch and clinical trials
Blood pressure drug irbesartan reduced vascular events over two years in vascular EDS
Irbesartan was tested in a trial with 57 adults with vascular EDS.
Peer-reviewed publicationVascular EDS
GlobalResearch and clinical trials
Gene therapy given to one eye in LHON: similar improvement seen in both eyes over 5 years
A gene therapy in patients with LHON due to an MT-ND4 gene change was followed for 5 years.
Peer-reviewed publicationLHON
GlobalResearch and clinical trials
Lerodalcibep phase 3 trial in HoFH: expected equivalence not shown on the main goal
In six countries, including Türkiye, 66 HoFH patients took two drugs one after the other.
Peer-reviewed publicationHoFH
EuropeDiagnosis and screening
Genetic data of undiagnosed patients re-examined in Europe: 506 families received a diagnosis
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed.
Peer-reviewed publication
USANew treatments and approvals
Crinecerfont, used together with steroids, approved in the USA for classic CAH
On December 13, 2024, the US Food and Drug Administration (FDA) approved a drug called crinecerfont for classic CAH (congenital adrenal hyperplasia).
Official drug approvalCAH
USADiagnosis and screening
Newborn genome screening in New York: 3.7% of the first 4,000 babies screened positive
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.
Peer-reviewed publication