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Uncovering Periodic Paralysis Program

Sponsored, no-charge genetic testing
US

Logo - Uncovering periodic paralysis program

What is the Uncovering Periodic Paralysis 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.

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Program eligibility

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)

  • And episodes are provoked by at least one of the common triggers for hyperkalemic or hypokalemic primary periodic paralysis

About Periodic Paralysis

Common triggers

  1. Hyperkalemic Primary Periodic Paralysis

Associated with13
Hyperkalemic primary periodic paralysis is associated with episodes of weakness and/or paralysis with a documented serum potassium >4.5 mEq/L6

Triggers may include13

  • Exposure to cold
  • Rest after exercise
  • Stress or fatigue
  • Potassium-rich food
  • Hunger/fasting

  1. Hypokalemic Primary Periodic Paralysis

Associated with14
Hypokalemic primary periodic paralysis is focal or generalized paralytic associated with focal or generalized paralytic episodes of skeletal muscle, which can last hours to days and are associated with concomitant hypokalemia (<2.5 mEq/L)6)

Triggers may include14

  • Rest after exercise
  • High carbohydrate-rich meals
  • Alcohol
  • Stress

Benefits of periodic paralysis gene test

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.

  • Primary Periodic Paralysis (PPP) is very rare, affecting ~4,000 to 5,000 diagnosed individuals in the US.1
  • This condition includes a spectrum of rare and chronic genetic, neuromuscular disorders with autosomal dominant inheritance that cause recurrent, progressive, and debilitating episodes of extreme muscle weakness and temporary paralysis that may negatively impact patients’ daily lives.4-6
  • Although there are related variants, the most common forms are hyperkalemic and hypokalemic periodic paralysis.2-3
  • Primary periodic paralysis is usually inherited from a parent and may affect multiple individuals within a family.

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 UncoveringPP@xerispharma.com.

Patients should speak with their healthcare providers to request a genetic test for periodic paralysis.

Test options

This program offers testing with the following panel. Learn more about the panel in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    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.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with patient about their results.

See how it works

Next steps and additional services

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US and Canada tested through the Periodic Paralysis program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by scheduling a session through their patient portal or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

__About Xeris Pharmaceuticals®
Xeris Pharmaceuticals® is a global commercial-stage biopharmaceutical company focused on the development and commercialization of therapies for rare diseases with significant unmet needs. Its primary focus is to build and advance a portfolio of vertical, therapeutically-aligned rare disease franchises, currently consisting of neuromuscular and endocrine franchises.


References

1. Data on file. Feasterville-Trevose, PA: Strongbridge Biopharma; 2017.
2. National Institutes of Health. Hyperkalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis. Accessed December 5, 2016.
3. National Institutes of Health. Hypokalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis. Accessed December 5, 2016.
4. Charles G, Zheng C, Lehmann-Horn F, Jurkat-Rott K, Levitt J. Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals. J Neurol. 2013;260:2606-2613.
5. Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K. The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. Acta Myol. 2012;31:126-133.
6. Statland JM, Fontaine B, Hanna MG, et al. Review of the diagnosis and treatment of periodic paralysis. Muscle Nerve. 2018;57:522-530.

Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.