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Genetic testing to shorten the diagnostic journey

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No-charge periodic paralysis gene panel testing program

Strongbridge Biopharma® 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.

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 Strongbridge representative about primary periodic paralysis or the Uncovering Periodic Paralysis genetic testing program, please email UncoveringPP@strongbridgebio.com.

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

Eligibility

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Ordering instructions

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Program eligibility

  • 18+ years of age

  • Episodic muscle weakness/paralysis attacks or episodic pain after attacks (more than one occurrence)

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

Specimen samples for this program are accepted from the US only.

Common triggers

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

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

Invitae Periodic Paralysis Panel

  • The Invitae Periodic Paralysis Panel includes analysis for both hyperkalemic and hypokalemic periodic paralysis.

  • If desired, re-requisition to the larger Invitae Comprehensive Neuromuscular Disorders Panel within 90 days of original test report.

  • Turnaround time for the panel is rapid: once Invitae receives the sample, you will receive results within 10 to 21 calendar days, on average.

  • Invitae’s board-certified genetic counselors are available on-demand Monday through Friday, 5 am to 5 pm Pacific time, to help review patient cases, differentiate between test options, and aid in interpreting results.

VIEW PANEL

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with a re-requisition

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If you don't find answers with your initial order of the Invitae Periodic Paralysis Panel, Uncovering Periodic Paralysis includes one re-requisition within 90 days to genes within the original clinical areas, such as Invitae Comprehensive Neuromuscular Disorders Panel.

Click here to log into your account, navigate to the order, and click "Add re-requisition"

Family follow-up testing for variants found in the Invitae Periodic Paralysis Panel 

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If a positive result is identified on the Invitae Periodic Paralysis Panel, all blood relatives qualify for gene-specific family follow up testing. Relatives do not need to meet program eligibility criteria.

Click here to log into your account and follow the on-screen prompts.

Family follow-up testing for variants found on a Re-Requisition

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If a positive result is identified outside of the Invitae Periodic Paralysis Panel genes in the re-requisition panel ordered (such as the Invitae Comprehensive Neuromuscular Disorders Panel), family follow-up testing is available. 

Click here and simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. 

Support every step of the way

 

Client Services

Available to answer your questions or help you through the testing process.

Contact

 

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

Support

About Strongbridge Biopharma

Strongbridge Biopharma 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.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.

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.