Epilepsy is a neurological disorder marked by recurrent, unprovoked seizures due to abnormal electrical activity in the brain. These seizures can vary widely in form, ranging from brief lapses in attention or muscle jerks to severe and prolonged convulsions. Epilepsy can result from genetic factors, brain injury, stroke, tumors, infections, or developmental disorders, though in many cases, the exact cause remains unknown.
What is the Program?
Invitae, BioMarin Pharmaceutical Australia Pty Ltd., Praxis Precision Medicines, and Xenon Pharmaceuticals Inc. have partnered to offer Invitae’s comprehensive Epilepsy Panel to any child 24-95 months of age who has had an unprovoked seizure.
Genetic testing may bring you closer to understanding what’s causing your patient’s epilepsy, helping your patients and their caregivers benefit from deeper knowledge and timely care.
To be eligible for this program, patients in Australia must meet the following criteria:
Any child 24-95 months of age who has had an unprovoked seizure.
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.
Founded in 1997, BioMarin is a global biotechnology Company dedicated to transforming lives through genetic discovery. The Company develops and commercializes targeted therapies that address the root cause of the genetic conditions. BioMarin’s unparalleled research and development capabilities have resulted in eight transformational commercial therapies for patients with rare genetic disorders. The Company’s distinctive approach to drug discovery has produced a diverse pipeline of commercial, clinical, and pre-clinical candidates that address a significant unmet medical need, have well-understood biology, and provide an opportunity to be first-to-market or offer a substantial benefit over existing treatment options. For additional information, please visit www.biomarin.com.
BRINEURA® (cerliponase alfa) is an enzyme replacement therapy developed by BioMarin Pharmaceutical Inc. for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), a form of Batten disease. This rare, inherited disorder is caused by a deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), leading to progressive neurological impairment. BRINEURA is administered directly into the cerebrospinal fluid via intraventricular infusion every two weeks. It is designed to slow the loss of walking ability in symptomatic pediatric patients aged 3 years and older. Clinical trials have demonstrated that BRINEURA can significantly delay disease progression, offering a crucial therapeutic option for affected children.
Praxis Precision Medicines is a clinical-stage biopharmaceutical company translating insights from genetic epilepsies into the development of therapies for CNS disorders characterized by neuronal excitation-inhibition imbalance. Praxis is applying genetic insights to the discovery and development of therapies for rare and more prevalent neurological disorders through our proprietary small molecule platform, Cerebrum™, and antisense oligonucleotide (ASO) platform, Solidus™, using our understanding of shared biological targets and circuits in the brain. Praxis has established a diversified, multimodal CNS portfolio including multiple programs across movement disorders and epilepsy, with four clinical-stage product candidates. For more information, please visit www.praxismedicines.com and follow us on Facebook, LinkedIn and Twitter/X.
Xenon Pharmaceuticals (Nasdaq:XENE) is a neuroscience-focused biopharmaceutical company committed to discovering, developing, and commercializing innovative therapeutics to improve the lives of people living with neurological and psychiatric disorders. We are advancing a novel product pipeline to address areas of high unmet medical need, including epilepsy and depression. For more information, please visit www.xenon-pharma.com.
1. Pal DK, et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.
2. Nickel M, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: An observational cohort study. Lancet Child & Adolescent Health. 2018;2(8):582-90.
3. Miller N, Truty R, Bailey M, et al. Behind The Seizure™: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2–4 years. Poster presented at the ACMG Annual Clinical Genetics Meeting; April 10–14, 2018; Charlotte, NC.
4. Truty R et al. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019;10:28.
