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No-cost 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.7-11
  • Although there are related variants, the most common forms are hyperkalemic and hypokalemic periodic paralysis.2-6
  • Primary periodic paralysis is usually inherited from a parent and may affect multiple individuals within a family.12

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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Panel

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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
Paralytic episodes with concomitant hyperkalemia (serum potassium concentration >5 mmol/L) or a serum potassium increase of at least 1.5 mmol/L during an attack

Triggers may include13

  • Cold environment
  • Rest after exercise
  • Stress or fatigue
  • Alcohol and certain foods/beverages
  • Potassium-rich food
  • Hunger/fasting
  • Changes in activity level
  • Changes in humidity
  • Extra sleep
  • Pregnancy and menstruation
  • Illness of any type
  • Some medications
  • Potassium supplements

Hypokalemic primary periodic paralysis

Associated with14

Paralytic episodes with concomitant hypokalemia (<2.5 mmol/L)

Triggers may include14

  • Rest after exercise
  • Carbohydrate-rich evening meals
  • Periods of inactivity, including nocturnal rest
  • Heavy meals
  • Sweets
  • Salt
  • Cold
  • Stress

Invitae Periodic Paralysis Panel

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

    • Testing with the Invitae Periodic Paralysis Panel includes analysis of the following four most common associated genes: SCN4A, CACNA1S, KCNJ2, and RYR1.

  • 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.

Family variant testing

  • Strongbridge Biopharma and Invitae offer no-cost family variant testing to any blood relative of a patient newly diagnosed through the Uncovering Periodic Paralysis genetic testing program.

  • Requirements:

    • A pathogenic or likely pathogenic variant was found on the Uncovering Periodic Paralysis gene panel test

    • Order must be placed within 90 days of the original test report

VIEW PANEL

Ordering made easy

Place your order Collect a specimen Results

To place a paper-based order, download the paper order form.

To place an order online, enter the online ordering portal.

To place a family variant testing order, download the paper family variant testing form.

To collect a specimen:

  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

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. Available from Strongbridge Biopharma plc. 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. National Institutes of Health. Anderson-Tawil syndrome. Available at: https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome. Accessed December 5, 2016. 5. National Institutes of Health. Potassium-aggravated myotonia. Available at: https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia. Accessed December 5, 2016. 6. National Institutes of Health. Paramyotonia congenita. Available at: https://ghr.nlm.nih.gov/condition/paramyotonia-congenita. Accessed December 5, 2016. 7. Greig SL. Dichlorphenamide: a review in primary periodic paralyses. Drugs. 2016;76:501-507. 8. 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. 9. Arya SN. Periodic paralysis. J Indian Acad Clin Med. 2002;3:374-382. 10. Cannon SC. Channelopathies of skeletal muscle excitability. Compr Physiol. 2015;5:761-790. 11. 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. 12. Fontaine B, Phillips LH 2nd. A newly approved drug for a rare group of diseases: dichlorphenamide for periodic paralysis. Neurology. 2016;86:1366-1367. 13. Weber F, Jurkat-Rott, Karin, Lehmann-Horn F. Hyperkalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2016. 14. Vicart S, Sternberg D, Arzel-Hezode M, et al. Hypokalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2014.