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Hereditary ATTR amyloidosis (hATTR amyloidosis)

Disease/Condition(s): hereditary ATTR (hATTR) amyloidosis
What is Hereditary ATTR amyloidosis (hATTR amyloidosis)?

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:

  • Positive imaging consistent with amyloid (technetium, CMR, strain echo)
  • Positive biopsy for TTR amyloid
  • Sensory and/or motor neuropathy (e.g., neuropathic pain, altered sensation, numbness and tingling, muscle weakness, impaired balance, difficulty walking, carpal tunnel syndrome-associated neuropathy, EMG/NCS abnormalities)
  • Autonomic dysfunction (e.g., nausea and vomiting, changes in GI motility, orthostatic hypotension, sexual dysfunction, bladder dysfunction)
  • Heart disease (e.g., cardiomyopathy, restrictive physiology, hypertrophy, arrhythmias, conduction abnormalities, heart failure, abnormal cardiac imaging)
  • Musculoskeletal indicators (e.g., history of carpal tunnel syndrome, back pain/lumbar spinal stenosis, rotator cuff injury)
  • Renal abnormalities (e.g., renal insufficiency and/or proteinuria)
  • Ocular changes (e.g., vitreous opacity, glaucoma, dry eyes, ocular amyloid angiopathy, retinal detachment)

Hereditary ATTR amyloidosis (hATTR amyloidosis) Sponsored Testing Program Overview:

Hereditary ATTR amyloidosis (NavigATTR)

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What is the role of testing for Hereditary ATTR amyloidosis (hATTR amyloidosis)?

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?

In partnership with AstraZeneca, this program provides no-cost genetic testing to detect TTR gene variants that may lead to hereditary transthyretin amyloidosis (hATTR), a protein misfolding disorder in which deposition of TTR amyloid aggregates causes multisystem organ dysfunction. Proper identification of an underlying pathogenic TTR gene variant is critically important for patients, their offspring, and siblings. No-cost TTR gene testing is available to patients in the US with a clinical diagnosis of ATTR amyloidosis or a family history of hATTR. TTR gene testing for patients meeting eligibility criteria must be ordered by a qualified healthcare provider.

Program Eligibility

Patients must reside in the United States, be at least 18 years of age, and meet certain other eligibility criteria, as specified on the test requisition form. Eligible patients include adult (>18 years of age) US residents with either family history of hATTR, positive PYP, or biopsy for amyloidosis. Patients with 2+ red-flag symptoms also may qualify. All testing must be ordered by a qualified healthcare professional.

Testing

How to participate

Choose between the following testing options:

Prevention Genetics

TTR Single-Gene Analysis

Genes Evaluated: TTR

How To Order

Order the test using the test requisition form (TRF).

Collect a blood, saliva, or buccal swab specimen in the collection tube. For information on ordering specimen kits, see Specimen Collection and Shipping section by clicking “Learn More” button.

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More Information About This Program

  • Patients that meet the eligibility criteria may receive one test at no cost.
  • No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
  • The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
  • Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
  • The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
  • Program is not valid where prohibited by law.
  • No identifiable patient data will be shared with sponsor as part of this program.

About AstraZeneca

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AstraZeneca (LSE/STO/Nasdaq: AZN) is a global, science-led biopharmaceutical company that focuses on the discovery, development, and commercialisation of prescription medicines in Oncology, Rare Diseases, and BioPharmaceuticals, including Cardiovascular, Renal & Metabolism and Respiratory & Immunology. Based in Cambridge, UK, AstraZeneca operates in over 100 countries and its innovative medicines are used by millions of patients worldwide. Please visit astrazeneca.com and follow the Company on social media @AstraZeneca.

About WAINUA

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Wainua (eplontersen) is a ligand-conjugated antisense oligonucleotide (LICA medicine designed to reduce the production of transthyretin, or TTR protein. Wainua has been approved in the US for the treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults (also referred to as ATTRv-PN).

About Ionis

Ionis Pharmaceuticals logo

For three decades, Ionis has invented medicines that bring better futures to people with serious diseases. Ionis currently has five marketed medicines and a leading pipeline in neurology, cardiology, and other areas of high patient need. As the pioneer in RNA-targeted medicines, Ionis continues to drive innovation in RNA therapies in addition to advancing new approaches in gene editing. A deep understanding of disease biology and industry-leading technology propels our work, coupled with a passion and urgency to deliver life-changing advances for patients. To learn more about Ionis, visit Ionispharma.com and follow us on X (Twitter) and LinkedIn.

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