EUNew treatments and approvals
Leriglitazone approved in the EU for boys aged 2-12 with cerebral adrenoleukodystrophy
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
Official drug approvalX-ALD
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
45 updates · page 1/3
USANew treatments and approvals
First drug for balance problems in ataxia-telangiectasia, levacetylleucine, approved in the USA
The US Food and Drug Administration (FDA) approved levacetylleucine for balance and walking problems in ataxia-telangiectasia (A-T).
Official drug approvalA-T
USANew treatments and approvals
Rebisufligene etisparvovec receives FDA approval as first treatment for Sanfilippo type A
The FDA has approved rebisufligene etisparvovec for children with Sanfilippo syndrome type A (MPS IIIA).
Official drug approvalMPS IIIA
EUNew treatments and approvals
Trofinetide approved in the EU for behavioral symptoms of Rett syndrome
On August 20, 2026, the European Commission approved trofinetide for Rett syndrome.
Official drug approvalRett
USANew treatments and approvals
Accelerated approval for pariglasgene brecaparvovec, first gene therapy for GSD type Ia
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
Official drug approvalGSD Ia
USANew treatments and approvals
Approval letter issued in the USA for oral oveporexton for narcolepsy type 1
The US Food and Drug Administration approved oveporexton tablets in a letter dated August 5, 2026.
Official drug approvalNarcolepsy type 1
EUNew treatments and approvals
Oral nerandomilast approved in the EU for IPF and progressive pulmonary fibrosis
The European Commission approved nerandomilast on July 15, 2026.
Official drug approvalIPF
USANew treatments and approvals
US approval of a sickle cell and thalassemia gene therapy extended to children over 2 years
On July 1, 2026, the US Food and Drug Administration (FDA) approved exagamglogene autotemcel for children over 2 years of age.
Official drug approvalSickle cell, Thalassemia
EUNew treatments and approvals
EU approves single-dose gene therapy into the spinal fluid for SMA patients aged 2 years and older
The European Commission approved onasemnogene abeparvovec, given into the spinal fluid, for spinal muscular atrophy.
Official drug approvalSMA
EUNew treatments and approvals
EU approval of marstacimab extended to hemophilia A and B with inhibitors
The European Commission extended the use of marstacimab to also cover patients with hemophilia A with factor VIII inhibitors and hemophilia B with factor IX inhibitors.
Official drug approvalHemophilia
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
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
EUNew treatments and approvals
Oral doxecitine and doxribtimine approved in the EU for TK2 deficiency
On March 26, 2026, the European Commission approved a medicine containing doxecitine and doxribtimine for TK2 deficiency.
Official drug approvalTK2 deficiency
USANew treatments and approvals
Accelerated approval for tividenofusp alfa for nervous system features of Hunter syndrome
Through the accelerated pathway, the FDA has approved tividenofusp alfa for children with Hunter syndrome (MPS II).
Official drug approvalMPS II
USANew treatments and approvals
Once-weekly injection navepegritide receives accelerated approval for achondroplasia in the USA
The FDA granted accelerated approval to the drug navepegritide on February 27, 2026.
Official drug approvalAchondroplasia
USANew treatments and approvals
Pegzilarginase, which lowers blood arginine in arginase 1 deficiency, approved in the USA
The US Food and Drug Administration (FDA) approved pegzilarginase for arginase 1 deficiency.
Official drug approvalArginase deficiency
EUNew treatments and approvals
Donidalorsen approved in the EU to prevent hereditary angioedema attacks
On January 19, 2026, the European Commission approved donidalorsen, which prevents hereditary angioedema attacks.
Official drug approvalHAE
EUNew treatments and approvals
Levacetylleucine approved in the EU for nervous system symptoms of Niemann-Pick type C
On January 19, 2026, the European Commission approved levacetylleucine for Niemann-Pick type C disease.
Official drug approvalNPC
EUNew treatments and approvals
EU approves the gene therapy etuvetidigene autotemcel for Wiskott-Aldrich syndrome
The European Commission approved etuvetidigene autotemcel for Wiskott-Aldrich syndrome.
Official drug approvalWiskott-Aldrich
USANew treatments and approvals
Oral mitapivat approved in the USA for anemia in thalassemia
The FDA has approved mitapivat for the treatment of anemia in adults with alpha- or beta-thalassemia.
Official drug approvalThalassemia