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
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
What is the Program?
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.
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:
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.
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.
Label all specimen containers with the patient’s name, date of birth, and/or ID number. At least two identifiers should be listed on specimen containers.
Label all specimen containers with the patient’s name, date of birth, and/or ID number. At least two identifiers should be listed on specimen containers.
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.
OXLUMO (lumasiran) is a medication approved for the treatment of primary hyperoxaluria type 1 (PH1), a rare genetic disorder characterized by excessive oxalate production by the liver. This overproduction leads to recurrent kidney stones, nephrocalcinosis, and can result in kidney failure. OXLUMO works by inhibiting the synthesis of glycolate oxidase, an enzyme involved in oxalate production, thereby reducing oxalate levels in the body. Administered as a subcutaneous injection, this drug represents a significant advancement in the management of PH1, offering patients a targeted treatment option that directly addresses the underlying metabolic disorder, potentially preventing or delaying the progression of kidney disease associated with this condition.
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.
