Rare Diseases
Latest News
NIH launches 5-year, $10 million study on acute flaccid myelitis
Researchers at the University of Alabama at Birmingham will lead the study, which aims to examine the natural history, incidence, and risk factors...
From the Journals
Study refines ALS risk among first-degree relatives of patients with disease
Heritability was high, even in the absence of known genetic factors.
Conference Coverage
CDC: Look for early symptoms of acute flaccid myelitis, report suspected cases
The average age of a patient diagnosed with AFM is 5 years
Latest News
FDA approves first treatment for neuromyelitis optica spectrum disorder
The Food and Drug Administration has approved Soliris (eculizumab) injection for IV use for the treatment of neuromyelitis optica spectrum...
From the Journals
Novel genetic therapy reduces key protein in Huntington’s disease
Intrathecal therapy was associated with dose-dependent reductions in mutant huntingtin protein, but clinical change will require further study.
Conference Coverage
Mutant huntingtin and neurofilament light are potential biomarkers in Huntington’s disease
PHILADELPHIA – The biomarkers successfully distinguish between healthy controls, patients with premanifest disease,...
FDA/CDC
FDA approves Zolgensma for infantile-onset SMA treatment
Zolgensma is the first gene therapy for the treatment of infantile-onset spinal muscular atrophy in children aged less than 2 years.
Conference Coverage
Inebilizumab reduces the risk of NMOSD attacks
Philadelphia – The humanized monoclonal antibody was well tolerated and reduced the risk of disability worsening.
Conference Coverage
Can an antisense oligonucleotide benefit patients with SOD1-ALS?
PHILADELPHIA – In patients with amyotrophic lateral sclerosis caused by mutations in the SOD1 gene, an investigational treatment reduced SOD1...
FDA/CDC
Ruzurgi approved for Lambert-Eaton myasthenic syndrome in patients under age 17
The approval is the first for a LEMS treatment specifically for pediatric patients.
Conference Coverage
Angelman syndrome treatment safe, well-tolerated, and effective in exploratory analyses
PHILADELPHIA – Experimental treatment may benefit adolescents and adults with Angelman syndrome.