Alnylam Act® Primary Hyperoxaluria Type 1 Program

Sponsored, no-charge genetic testing and counseling
US and Canada

Alnylam Act Primary Hyperoxaluria Type 1 logo

What is PH1?

PH1 is a progressive genetic disease that is potentially life-threatening and often presents with calcium oxalate kidney stones. Calcium oxalate crystals are insoluble and toxic and can lead to serious disease manifestations, including recurrent kidney stones, nephrocalcinosis, progressive renal failure, and multiorgan damage from systemic oxalosis once the disease advances.1-3

What is the role of genetic testing for PH1?
Due to the unpredictable progression of the disease, patients with PH1 may benefit from early and accurate diagnosis. While a healthcare professional will typically use a urine test to measure the urine oxalate excretion level in a diagnostic workup of individuals suspected of primary hyperoxaluria, genetic testing can help confirm a diagnosis of PH1 and may help avoid the need for an invasive liver biopsy to determine enzyme activity. A genetic test for mutations in the AGXT gene is a simple way to help confirm a PH1 diagnosis.2,4-6

Increasing access to genetic testing and counseling

  • Alnylam Act® is a sponsored, no-charge genetic testing and counseling program for patients with a family history or suspected diagnosis of PH1. The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health

Third-party services

While Alnylam provides financial support for this program, tests and services are performed by independent third parties.

Criteria requirements

Healthcare professionals must confirm that patients meet certain criteria to use the program.

De-identified patient data

Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes.

Available in multiple countries

Both genetic testing and genetic counseling are available in the US and Canada.

No obligation

Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.

Sponsored program

No patients, healthcare professionals, or payers, including government payers, are billed for this program.

Program eligibility

To be eligible for the Alnylam Act® PH1 program, patients must have a family history or suspected diagnosis of primary hyperoxaluria with one or more of the following symptoms:

  • Family history of primary hyperoxaluria

  • Or, adult (18 years or older) with either elevated urinary oxalate OR elevated plasma oxalate

  • Or, child (less than 18 years old) with one of the following:

    • Failure to thrive and impaired kidney function
    • Nephrolithiasis
    • Nephrocalcinosis
    • Elevated urinary oxalate OR elevated plasma oxalate

Test options

The Alnylam Act® program offers testing with either of the following panels.

Please note that this program does not offer the ability to re-requisition to another panel. Be sure to select the panel that is most appropriate for your patient.

How to order

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

  • Step 1 duotone icon

    Step 1

    Determine eligibility, select your test, and place your order via our convenient online portal.

    To place your paper-based order, complete the Invitae paper order form for Alnylam Act® PH1 and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment.

    For Canadian providers, complete one of the forms below:

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit (blood, buccal, or saliva) and then use the label provided for free return shipping.* Specimen and shipping requirements depend on the specimen and test type. Please review both before sending in your patient’s sample. Invitae can send buccal or saliva collection kits directly to patients for at-home collection.

    For paper-based orders, request a kit here.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and discuss with your patients. 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.

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US and Canada tested through the Alnylam Act® 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 using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

About Alnylam
Alnylam is leading the translation of RNAi as a new class of innovative medicines, with a core focus on RNAi therapeutics toward genetically defined targets for the treatment of serious, life-threatening diseases. RNAi therapeutics offer a modular and reproducible approach for development and commercialization of innovative medicines. Alnylam is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with primary hyperoxaluria type 1. For more information, visit AlnylamAct.com.

References
1. Hoppe B. Nat Rev Nephrol. 2012;8(8):467-475.
2. Milliner DS, Harris PC, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283. Updated November 30, 2017. Accessed January 3, 2022.
3. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658.
4. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781-1791.
5. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729-1736.
6. American Urological Association. https://www.auanet.org/guidelines/guidelines/kidney-stones-medical-mangement-guideline. Published 2014; Reviewed and Validity Confirmed 2019. Accessed January 3, 2022.

*Return shipping is offered at no additional charge for most samples returned from the US or Canada.

The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health. While Alnylam provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes. Both genetic testing and genetic counseling are available in the US and Canada. Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product. No patients, healthcare professionals, or payers, including government payers, are billed for this program.

Alnylam Act and its associated logo are trademarks of Alnylam Pharmaceuticals, Inc. © 2023 Alnylam Pharmaceuticals, Inc. All rights reserved.