Rare Diseases
From the Journals
Expedited review programs not shortening drug development
While it may be hard to understand the impact of the many expedited review programs introduced at the FDA, there is still room for improvement in...
Conference Coverage
Study delineates spectrum of Dravet syndrome phenotypes
BALTIMORE – Presentations often differ subtly from the prototypical phenotype.
Conference Coverage
Reduction in convulsive seizure frequency is associated with improved executive function in Dravet syndrome
Baltimore – Prolonged periods of large reductions in convulsive seizure frequency may improve everyday deficits in...
News from the FDA/CDC
FDA approves Givlaari for treatment of acute hepatic porphyria
Prior to this approval, existing treatments provided only partial relief from porphyria attacks, according to the FDA.
Conference Coverage
AVXS-101 may result in long-term motor improvements in SMA
CHARLOTTE, N.C. – Data indicate continuous expression of the SMN protein among treated patients.
Conference Coverage
Ataluren shows real-world benefit for nonsense mutation Duchenne muscular dystrophy
AUSTIN, TEX. – Side effects in children taking ataluren were primarily gastrointestinal upset, headache, and...
Conference Coverage
Families face challenges of gene therapy
Patients and manufacturers continue on a learning curve to improve trial designs and patient experiences.
Conference Coverage
Experts address barriers to genetic screening
WASHINGTON – Panel explores clinical implications of removing barriers to genetic testing for newborns and carriers.
Conference Coverage
CMT1A neuropathy improves with investigational drug PXT3003
AUSTIN, TEX. – Adverse events during treatment were similar across intervention and placebo groups, with similar rates of trial attrition.
Conference Coverage
Baricitinib may benefit patients with Aicardi-Goutières syndrome
CHARLOTTE, N.C. – A compassionate use trial indicates that JAK inhibition may have a role in the treatment of genetic interferonopathies.
Literature Review
Neurologists publish consensus statement on stridor in MSA
The statement provides guidance on the diagnosis, prognosis, and treatment of stridor in patients with MSA, as well as indicating areas for future...