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NCT Number: NCT04850105

A Non-interventional Cohort Safety Study of Patients With hATTR-PN

This is a prospective, non-interventional, Long-term, multinational cohort safety study of patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN). The overarching goal of this study is to further characterize the long-term safety of TEGSEDI (inotersen) in patients with hATTR-PN under real-world conditions.

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Key information

Conditions

Hereditary Transthyretin Amyloidosis With Polyneuropthy Amyloidosis Amyloidosis, Hereditary, Transthyretin-Related Metabolic Diseases Nutritional and Metabolic Diseases Proteostasis Deficiencies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Study Centre, Sofia, Bulgaria

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About this study

Study Rationale:

hATTR-PN is an inherited, progressive, fatal disease caused by misfolded transthyretin (TTR) proteins that accumulate as amyloid fibrils predominantly in the peripheral nerves, heart, gastrointestinal tract, and other organs. hATTR-PN is a rare disease and there are no large epidemiological studies that reliably provide an indication of its prevalence. The worldwide distribution is unequal, with higher rates in Portugal, Japan, Northern Sweden, and the US. Current estimates suggest there may be 10,000 afflicted patients worldwide.

TEGSEDI (inotersen) is an antisense oligonucleotide inhibitor of human TTR protein synthesis. In Europe and Canada, TEGSEDI is indicated for the treatment of Stage 1 or Stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR). In the US, TEGSEDI is indicated for treatment of the polyneuropathy of hereditary TTR-mediated amyloidosis in adults. Efficacy has been demonstrated in patients with hATTR-PN, as reflected by a slowing or reversal of disease progression.

Research Question:

The overarching goal of this study is to further characterize the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.

Population:

Patients in Europe, US, and Canada will be enrolled from centers that manage patients with hATTR-PN. Physicians participating in the study will be instructed to invite all patients who meet study eligibility criteria to enroll until the enrollment period is closed.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Either:
  • TEGSEDI Exposed Cohort: Patients diagnosed with hATTR-PN who have taken any dose of TEGSEDI within 25 weeks prior to enrollment
  • TEGSEDI Unexposed Cohort: Patients diagnosed with hATTR-PN who have not taken any dose of TEGSEDI within 25 weeks prior to enrollment and are eligible for TEGSEDI treatment per applicable product label. Patients may take other drugs to treat hATTR-PN.
  • Clinically managed in Canada, Europe, or the US
  • Have provided appropriate written informed consent

Exclusion criteria

  • None

Treatment and study plan

Data Collection

Other

Data on each patient will be collected at study enrollment and at each follow-up visit.

No mandatory visits, tests, or assessments are required for this study. All visits will be scheduled and conducted according to the clinical site's normal clinical practice.

Primary outcomes

  1. Further characterization of the long-term safety of TEGSEDI in patients with hATTR-PN under real-world conditions.

    Time frame: 10 years

    • Determination of the incidence rate of thrombocytopenia in patients with hATTR-PN treated with TEGSEDI (TEGSEDI-exposed cohort)
    • Comparison of the relative rates of thrombocytopenia in hATTR-PN patients treated with TEGSEDI (TEGSEDI exposed) to hATTR-PN patients unexposed to TEGSEDI (TEGSEDI- unexposed)

Secondary outcomes

  1. Description of the incidence rate of the Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.

    Time frame: 10 years

    To describe the incidence rate of the following Adverse Events of Special Interest (AESI):

    • severe thrombocytopenia (platelet counts <25 x 109/L and separately, <50 x 109/L)
    • serious and non-serious bleeding events
    • glomerulonephritis
    • hepatotoxicity/serious hepatobiliary events
    • composite of stroke and/or cervicocephalic arterial dissection
    • central nervous system (CNS) vasculitis
    • ocular toxicity due to vitamin A deficiency

  2. Description of the time to onset of Adverse Events of Special Interest (AESI) in the TEGSEDI-exposed and TEGSEDI-unexposed patients.

    Time frame: 10 years

    To describe the time to onset of the following Adverse Events of Special Interest (AESI):

    • severe thrombocytopenia
    • serious and non-serious bleeding events
    • glomerulonephritis
    • hepatotoxicity/serious hepatobiliary events
    • composite of stroke and/or cervicocephalic arterial dissection
    • central nervous system (CNS) vasculitis
    • ocular toxicity due to vitamin A deficiency

Study contacts

Contact information is provided by the study sponsor or research team.

Ionis Pharmaceuticals

CONTACT

[email protected]

(844) 915-5145

Sponsors and collaborators

Lead sponsor

Akcea Therapeutics

Industry

Collaborators

  • United BioSource, LLC

Registry information

Official study title

A Prospective, Non-interventional, Long-term, Multinational Cohort Safety Study of Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (hATTR-PN)

Important dates

Study start
2021
Primary completion
2036
Study completion
2036
First posted
Apr 20, 2021
Registry last updated
Sep 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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