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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.
Program eligibility
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18+ years of age
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Episodic muscle weakness/paralysis attacks or episodic pain after attacks (more than one occurrence)
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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
Invitae Periodic Paralysis Panel
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The Invitae Periodic Paralysis Panel includes analysis for both hyperkalemic and hypokalemic periodic paralysis.
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If desired, re-requisition to the larger Invitae Comprehensive Neuromuscular Disorders Panel within 90 days of original test report.
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Turnaround time for the panel is rapid: once Invitae receives the sample, you will receive results within 10 to 21 calendar days, on average.
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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.
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
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:
- Data on file. Feasterville-Trevose, PA: Strongbridge Biopharma; 2017.
- National Institutes of Health. Hyperkalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis. Accessed December 5, 2016.
- National Institutes of Health. Hypokalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis. Accessed December 5, 2016.
- 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.
- 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.
- Statland JM, Fontaine B, Hanna MG, et al. Review of the diagnosis and treatment of periodic paralysis. Muscle Nerve. 2018;57:522-530.
