Porphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes several subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging.
The four types of acute hepatic porphyria (AHP) are acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP). These four types result from a genetic defect leading to a deficiency in one of the enzymes of the heme biosynthesis pathway in the liver.
Genetic testing is crucial for accurately diagnosing and effectively managing acute hepatic porphyria (AHP), a group of rare metabolic disorders characterized by enzyme deficiencies in the heme biosynthesis pathway. By identifying specific genetic mutations in genes such as PBGD, HMBS, CPOX, and PPOX, genetic testing provides a definitive diagnosis, distinguishing AHP from other conditions with similar symptoms, which is essential for targeted treatment. It also facilitates family screening and genetic counseling, crucial for understanding inheritance patterns and managing disease prevention. Moreover, precise genetic information supports the implementation of specific therapies, like RNA interference (RNAi) drugs, and guides the management of lifestyle and environmental triggers to prevent acute attacks, enhancing overall patient care and outcomes.
What is the Program?
The Alnylam Act® program was created to provide access to genetic testing and counseling to patients with acute hepatic porphyrias 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 U.S. 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
To be eligible for the Alnylam Acute Hepatic Porphyrias (AHP) program, patients in the US and Canada must be pubescent or older and meet at least one of the following criteria:
Family history of acute hepatic porphyria
Or elevated (> upper limit of normal) urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) levels
Or unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse (poorly localized) abdominal pain
And at least TWO of the following:
Collect your patient’s specimen using an Invitae collection kit and send with the label provided for free return shipping.
Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section
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.
GIVLAARI® (givosiran) is an RNA interference (RNAi) therapeutic developed by Alnylam Pharmaceuticals for the treatment of acute hepatic porphyria (AHP). It is designed to target and reduce the production of aminolevulinic acid synthase 1 (ALAS1) mRNA, which leads to a decrease in toxic heme intermediates that accumulate and cause the symptoms of AHP. GIVLAARI is administered via subcutaneous injection and has shown significant efficacy in reducing the frequency of porphyria attacks and improving the quality of life for patients with AHP.
