Hereditary ATTR amyloidosis (hATTR amyloidosis) is an inherited, rapidly progressive, debilitating, and often fatal disease. It is caused by a variant in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid fibrils in multiple tissues including the nerves, heart, and gastrointestinal tract. hATTR amyloidosis can lead to significant morbidity, disability, and mortality, with a median survival of 4.7 years following a diagnosis.
hATTR amyloidosis is a multisystemic disease with a heterogeneous clinical presentation that includes sensory and motor, autonomic (e.g., diarrhea, sexual dysfunction, orthostatic hypotension), and cardiac symptoms.
Signs and symptoms of hATTR amyloidosis can include:
Genetic testing plays a crucial role in the diagnosis and management of hereditary transthyretin (hATTR) amyloidosis, a genetic condition characterized by the accumulation of amyloid fibrils in various organs due to mutations in the transthyretin (TTR) gene. By identifying specific mutations in the TTR gene, genetic testing confirms the diagnosis of hATTR amyloidosis, distinguishing it from other types of amyloidosis and guiding appropriate treatment options, such as TTR stabilizers or gene-silencing therapies.
What is the Program?
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 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 Hereditary ATTR (hATTR) amyloidosis program, patients in the US or Canada must be 18 years of age or older, and must meet the criteria below
Patients with at least one hATTR high index of suspicion indicators (below) are eligible for testing
Or, Patients with at least two hATTR index of suspicion indicators (below) are eligible for testing
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.
ONPATTRO is an RNAi therapeutic that is approved in the United States and Canada for the treatment of the polyneuropathy of hereditary ATTR (hATTR) amyloidosis in adults. ONPATTRO is also approved in the European Union, Switzerland and Brazil for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy, and in Japan for the treatment of hATTR amyloidosis with polyneuropathy. ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). It is designed to target and silence TTR messenger RNA, thereby reducing the production of TTR protein before it is made. Reducing the pathogenic protein leads to a reduction in amyloid deposits in tissues.
