Ataxia

• The GAERS model mimics behavioral, electrophysiological and pharmacological features of human absence seizures.
• The GAERS model is a proven, early, informative indicator of efficacy in anti-seizure drug development, with high predictability of response in humans.
• In the model, BAER-101 demonstrated full suppression of seizure activity with a minimal effective dose of 0.3 mg/kg, PO.
• The combination of safety, tolerability and efficacy in an established translationally relevant epilepsy model support BAER-101’s continued development.

• CELEBRATION, Fla., July 19, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra, or the Company, formerly KemPharm, Inc.), a rare disease therapeutics company, today announced their support of the upcoming National Niemann-Pick Disease Foundation’s (NNPDF) Family Support and Medical Conference.
• Members of the Zevra team will attend this event which is being held in Orlando, Florida, from July 20 through July 22, 2023.
• In addition to providing a corporate update, Zevra plans to lead a family working group session to gain insights from caregivers on important topics facing the rare disease community.
• “The Zevra team is proud to sponsor the NNPDF and their work supporting the patients and their families who continue to inspire us with their strength and hope.

• While most people suffer acute and relatively short-lived effects, such as dizziness and headache, in some cases symptoms persist for weeks, months or years.
• Concussion in sport – from the junior to the elite level – is being prioritised as a public health concern in Australia.
• The latest data show concussion can happen in nearly every sport, not just contact sports, with almost 3,100 hospitalisations for concussion caused by sports in 2020–21.

Traumatic brain injury

• Concussion is a form of traumatic brain injury that can result in neurological dysfunction, including migraine, cognitive deficit, confusion, slowed reaction times, personality changes, drowsiness and emotional changes.
• After brain injury there is a cascade of events that impacts the health of neurons and affects the flow of chemical ions, such as calcium, in the brain.
• Read more:
  Concussion: almost half of people still show signs of brain injury after six months

Other types of genes

• Apart from a role for ion channel genes, there have been a number of additional genes linked by research to concussion.
• Another genetic variation in the ApoE gene that makes it less productive has been linked to a higher likelihood of concussion.
• Beyond ApoE, genes that help control a variety of brain functions have been suggested as factors in concussion – including some involved in neuronal growth, dopamine receptors and, most recently, brain axon (nerve fibre) development.

A predisposition for injury

• Questions concerning the link between genetic predisposition to injury in sport are not new.
• In 2016, the Australian Institute of Sport (AIS) released a position statement on the ethics of genetic testing and research in sport.
• Athletes and support staff there are open to the idea of genetic information being used to improve sport performance and reduce injury risk.

What’s next?

• Before introducing genetic testing, regulatory and governance frameworks would also need careful consideration.
• She is a member of the Human Genetics Society of Australasia and Chair of the Board of Censors for Diagnostic Genomics.

• It is the fourth most common neurological disorder worldwide.
• EPM7 symptoms typically emerge between the ages of 3 and 15, with progressively severe myoclonus, ataxia, and occasional tonic-clonic seizures.
• Current anti-seizure drugs can help to reduce the incidence of tonic-clonic seizures, but these drugs do not improve the myoclonus or ataxia.
• The Office of Orphan Products Development has also granted orphan drug designation for AUT00201 for the treatment of EPM7.