Hypokalemic primary periodic paralysis (hypoKPP) is a rare genetic disorder characterized by episodes of muscle weakness or paralysis associated with a drop in potassium levels in the blood (hypokalemia). These episodes often occur with triggers such as rest after exercise, high carbohydrate meals, or stress.
The condition typically begins in adolescence or young adulthood and can vary widely in severity. During an episode, the muscle weakness typically starts in the legs and can progress to involve the arms and other body parts. The respiratory muscles and muscles of the eyes and face usually remain unaffected.
HypoKPP is caused by mutations in genes that are responsible for proper muscle cell function, particularly in how they handle ion channels for potassium or sodium. The most commonly involved genes are the SCN4A gene, which encodes a sodium channel, and the CACNA1S gene, which encodes a calcium channel.
A periodic paralysis gene panel test can bring you and your patients closer to uncovering the genetic cause behind the attacks of paralysis and muscle weakness caused by hyperkalemic or hypokalemic periodic paralysis. It can help shorten the diagnostic journey and expedite clinical management of the disease.
If you are a healthcare professional and would like to speak to a Xeris representative about primary periodic paralysis or the Uncovering Periodic Paralysis genetic testing program, please email [email protected].
Patients should speak with their healthcare providers to request a genetic test for periodic paralysis.
What is the Program?
Xeris Pharmaceuticals® has partnered with Invitae to offer a periodic paralysis gene panel test for those who have episodic muscle weakness or temporary paralysis provoked by common triggers for primary hyperkalemic or hypokalemic periodic paralysis.
Periodic Paralysis Program is open to all individuals 18 years or older within the US with
Episodic muscle weakness/paralysis attacks or episodic pain after attacks (more than one occurrence)
Or episodes are provoked by at least one of the common triggers for hyperkalemic or hypokalemic primary periodic paralysis
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.
Program Information
The Uncovering Periodic Paralysis program is a sponsored genetic testing initiative focused on diagnosing different types of periodic paralysis, a group of disorders that lead to temporary episodes of muscle weakness or paralysis. The program provides genetic testing to identify mutations in genes known to cause these conditions, aiding in accurate diagnosis and treatment planning.
This program is designed for individuals experiencing symptoms characteristic of periodic paralysis, such as episodic muscle weakness, changes in potassium levels during episodes, and a family history of similar symptoms. A referral from a healthcare provider is required for participation.
The program typically involves sequencing key genes associated with periodic paralysis, such as CACNA1S, SCN4A, and KCNJ2, which are linked to different forms of the condition. These tests help identify specific mutations that can cause the characteristic symptoms of periodic paralysis.
Healthcare providers can enroll patients by submitting a comprehensive application that includes the patient’s detailed medical history, documented symptoms, previous diagnostic test results, and the necessary consent forms. This application ensures that genetic testing is clinically justified.
Participants benefit from obtaining a precise genetic diagnosis, which can significantly influence management and treatment options. Understanding the genetic basis of their condition also helps in determining the risk of passing the disorder to future generations and may guide family planning decisions.
Results from the genetic tests are typically available within a few weeks from the date of sample receipt. The specific timeline can vary depending on the complexity of the genetic analysis. Participants and their healthcare providers are informed promptly once the results are available.
Xeris (Nasdaq: XERS) is a growth-oriented biopharmaceutical company committed to improving patient lives by developing and commercializing innovative products across a range of therapies. Xeris has three commercially available products; Gvoke®, a ready-to-use liquid glucagon for the treatment of severe hypoglycemia, Keveyis®, a proven therapy for primary periodic paralysis, and Recorlev® for the treatment of endogenous Cushing’s syndrome. Xeris also has a robust pipeline of development programs to extend the current marketed products into important new indications and uses and bring new products forward using its proprietary formulation technology platforms, XeriSol™ and XeriJect®, supporting long-term product development and commercial success.
Xeris Biopharma Holdings is headquartered in Chicago, IL. For more information, visit www.xerispharma.com, or follow us on X, LinkedIn, or Instagram.
KEVEYIS® (dichlorphenamide) is the first and only FDA-approved treatment for primary periodic paralysis (PPP), which includes hyperkalemic, hypokalemic, and related variants. Developed by Strongbridge Biopharma, KEVEYIS works by managing the symptoms of these rare, hereditary muscle disorders that cause debilitating episodes of muscle weakness or paralysis. Clinical studies have demonstrated its effectiveness in reducing the frequency and severity of these attacks. The most common side effects reported include numbness or tingling, cognitive difficulties, and changes in taste. KEVEYIS is an important therapeutic option for individuals with PPP, offering significant relief and improved quality of life for those affected by these challenging conditions.
1. Data on file. Feasterville-Trevose, PA: Strongbridge Biopharma; 2017.
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3. National Institutes of Health. Hypokalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis. Accessed December 5, 2016.
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