News

Zogenix‘s investigational therapy Fintepla (ZX008) to treat epileptic seizures associated with Dravet syndrome will be marketed in Japan by pharmaceutical company Nippon Shinyaku. Fintepla is a low-dose oral solution of fenfluramine hydrochloride, a compound derived from the stimulant amphetamine. Patients take it with other epileptic treatments…

The impact of Dravet syndrome on the quality of life of patients and caregivers is generalizable across Western countries, and should be targeted as part of new therapy evaluations, research suggests. The findings were published in an article, “Perception of impact of Dravet syndrome on children…

Confirmation of Dravet syndrome by genetic analysis and identification of gene mutations is important to provide patients with adequate treatment and follow-up, according to a case report. The report, “Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations,” was published in Case Reports in Medicine.

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

Multimodal analysis that incorporates data obtained from different methodologies seems to be the best approach to build a solid classification system for SCN1A genetic variants associated with Dravet syndrome, a study says. The study, “Multimodal analysis of SCN1A missense variants improves interpretation of clinically relevant variants in…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

A deep understanding of the natural history of Dravet syndrome, an early diagnosis, carefully considered treatment, and regular follow-up care are crucial to attain positive clinical outcomes, according to a case report study. The study, “Retracing the natural history of Dravet syndrome: Report and review of literature,” was…

The National Institute of Neurological Disorders and Stroke (NINDS) has awarded NeuroCycle Therapeutics a $500,000 grant to test advanced subtype-selective GBAA receptor modulators in Dravet syndrome models. The Small Business Innovation Research grant to evaluate NCT10004 and NCT10015 furthers the pharmaceutical company’s efforts…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…