Exome Panel Promising for Diagnosing Epilepsy, Pamrevlumab for Duchenne Muscular Dystrophy Receives Orphan Drug Designation, Riluzole NDA Accepted for ALS


Neurology News Network for the week of April 20, 2019.

This week, Neurology News Network covered the results of a study where researchers found that exome-based genetic testing panels are a promising diagnostic modality for patients with childhood-onset idiopathic epilepsy, pamrevluamb (FibroGen) being granted orphan drug designation for Duchenne muscular dystrophy, and the FDA acceptance of the NDA for an oral film formulation of riluzole (Aquestive Therapeutics) for ALS. (Transcript below)


Welcome to Neurology News Network. I’m Jenna Payesko. Let’s get into the news from this week.

Exome-based genetic testing panels are a promising diagnostic modality for patients with childhood-onset idiopathic epilepsy, allowing for both rapid analysis of results as well as flexibility in gene content. The results of a recent study suggest that exome-based screenings may allow for maximum diagnostic yield in an increasingly crowded field of genetic tests.

The initial exome panel, which targeted 100 curated epilepsy genes for sequence and copy number analysis, resulted in a diagnosis in 10.6% of patients. Additional testing, including parental screening for 15 probands and reflex exome sequencing of 12 probands resulted in an overall diagnostic yield of 17.9%. The yield was highest among probands with onset in infancy.

The FDA has granted FibroGen’s anti-connective tissue growth factor antibody, pamrevlumab, orphan drug designation for the treatment of Duchenne muscular dystrophy.

The first-in-class antibody developed to inhibit the activity of connective tissue growth factor, is currently being studied in an open-label, single arm phase 2 trial to estimate its safety and efficacy in non-ambulatory subjects with DMD. In the trial, each subject will receive 35 mg/kg of pamrevlumab every 2 weeks by intravenous fusion for up to 156 weeks. Efficacy assessments will be performed routinely throughout the course of the study, and all subjects will be monitored closely for safety.

Aquestive Therapeutics announced that the FDA accepted an NDA for its investigative oral film formulation of riluzole for the treatment of ALS.

The treatment was previously granted an orphan drug designation in January 2018; its NDA is supported by a number of studies which sought to confirm its bioequivalence to its reference listed drug, Rilutek, the riluzole formulation marketed by Sanofi.

Daniel Barber, MBA, chief strategy and development officer of Aquestive, noted in a statement that the company is pleased about the FDA’s acceptance of the NDA, “given the needs ALS patients have for treatment advances.”

For more direct access to expert insight, head to neurologylive.com. This has been Neurology News Network. Thanks for watching.

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