Glycomine completes enrollment in Phase 2b trial for rare genetic disorder

The study is a global, randomized, double-blind, placebo-controlled trial testing GLM101 for phosphomannomutase 2 congenital disorder of glycosylation

USFDA approves Marinus’ treatment for genetic disorder

First and only FDA-approved treatment for seizures associated with CDKL5 deficiency disorder (CDD) in patients two years of age and older

World Thalassemia Day: RGCIRC promotes shift from transfusion to transplant

The leading cancer hospital urges carrier screening to prevent thalassemia burden

Neurocrine Biosciences to acquire Soleno Therapeutics for $2.9 billion

The acquisition adds VYKAT XR (diazoxide choline), the first FDA-approved therapy for hyperphagia in Prader-Willi syndrome (PWS), a rare genetic disorder, to Neurocrine’s portfolio

Shionogi launches global Phase 2 trial for late-onset Pompe disease treatment

Esprit is a multicenter, randomized, placebo-controlled, double-blind study assessing the safety, pharmacodynamics, and preliminary efficacy of S-606001 as a substrate reduction therapy

FDA nod to YUVIWEL, first once-weekly treatment for kids with achondroplasia

Achondroplasia, a rare genetic disorder, causes skeletal dysplasia and often increases the risk of muscular, neurological, and cardiorespiratory complications

Ultragenyx bags FDA priority review for groundbreaking GSDIa gene therapy

If approved, DTX401 would be the first treatment to address the disease at its root cause

Mirum Pharmaceuticals bags Canadian nod for LIVMARLI to treat rare liver disorder

LIVMARLI’s new tablet form offers patients weighing 22 kg or more a convenient, one-tablet-per-dose option, complementing the existing 9.5 mg/ml oral solution

Ionis and Otsuka score EU nod for DAWNZERA, offering new hope for rare HAE patients

The EU approval of DAWNZERA is an important milestone that reflects our ongoing commitment to bring this innovative medicine to people in need across the globe

FDA nod to first-ever treatment for fatal pediatric Menkes disease