Rare diseases Xagena
A new analysis of 5-year results with novel gene therapy, PTC-AADC, presented at 50th Child Neurology Society Annual Meeting, has shown profound improvements in children with aromatic L-Amino acid de ...
Full positive results from the HELIOS-A phase 3 study of Vutrisiran, an investigational RNAi therapeutic in development for the treatment of transthyretin-mediated ( ATTR ) amyloidosis, which met its ...
HELIOS-A phase 3 study of Vutrisiran, an investigational RNAi therapeutic in development for the treatment of transthyretin-mediated ( ATTR ) amyloidosis, met its primary and both secondary endpoints ...
Oxlumo is a medicine used for treating primary hyperoxaluria type 1, an inherited disease in which a substance called oxalate builds up in the body, causing damage to the kidneys and other organs. Ox ...
Positive results from the randomized phase 2 ELEKTRA study of Soticlestat in children with Dravet syndrome ( DS ) or Lennox-Gastaut syndrome ( LGS ) were announced. Soticlestat is a potent, highly se ...
The role of induction therapy prior to autologous stem cell transplant ( ASCT ) in immunoglobulin light chain ( AL ) amyloidosis remains controversial. Data on the prognostic impact of response to i ...
New data from the core and extension phases of the DRIVE PK phase 2 study of Mitapivat ( AG-348 ) in adults with pyruvate kinase ( PK ) deficiency were published in the New England Journal of Medicine ...
The New England Journal of Medicine ( NEJM ) has published the results from a phase 2 dose-finding and extension study for Vosoritide, an investigational analog of C-type natriuretic peptide ( CNP ), ...
Full pivotal phase III SAkuraStar study results for Satralizumab as a monotherapy for neuromyelitis optica spectrum disorder ( NMOSD ), a rare debilitating central nervous system disease, were present ...
The U.S. Food and Drug Administration ( FDA ) has approved Zolgensma ( Onasemnogene abeparvovec-xioi ), the first gene therapy approved to treat children less than two years of age with spinal muscula ...
Novo Nordisk has announced the submission of a Biologics License Applications ( BLA ) to the US Food and Drug Administration ( FDA ) and a Marketing Authorisation Application ( MAA ) to the European M ...
The results of a pediatric phase 2 clinical trial of Burosumab ( Crysvita ) for the treatment of X-linked hypophosphatemia ( XLH ) in children aged 5 to 12 years were published by the New England Jour ...
Muscle biopsy results from 4053-101 study, a phase 1/2 first-in-human study conducted in Europe to assess the safety, tolerability, pharmacokinetics, and efficacy of Golodirsen in 25 boys with confirm ...
Results from two phase 3 studies of the Tezacaftor ( VX-661 ) / Ivacaftor combination treatment that showed statistically significant improvements in lung function ( percent predicted forced expirator ...
Amyotrophic lateral sclerosis ( ALS ) is a rapidly progressing neurodegenerative disease that is characterized by motor neuron loss and that leads to paralysis and death 2-5 years after disease onset. ...
