PL_GNT01_ISR_Grant 53234273

WI241665 2018 GLOBAL ASPIRE TTR Amyloidosis _ Transthyretin Amyloidosis National Registry - a Prospective Non-interventional, Longitudinal, Observational Multicentre Study

We carry out a prospective non-interventional, longitudinal, observational multicentre registry designed to improve our understanding of the epidemiology of TTR amyloidosis in our country. The main objective of the proposed study is to determine the occurrence of TTR amyloidosis and describe clinical profile of patients in the population of our country.

Study Overview

• Status: Enrolling by invitation
• Conditions: Transthyretin Amyloidosis; Transthyretin (TTR) Amyloid Cardiomyopathy; Transthyretin Cardiomyopathy (TTR-CM)

Detailed Description

Demographic information, TTR genotype, medical history, family history of the disease, and transplant history are assessed at baseline. On return visits, signs and symptoms of the disease are evaluated, general examinations are conducted, and laboratory data, measures of neurologic and cardiovascular function, and quality of life are assessed according to the standard of care for patients.

Specific Aims and Hypotheses

Our working hypotheses are:

1. TTR amyloidosis affects patients in the population of our country;
2. there are specific TTR mutations in the population of our country;
3. there is genotype-phenotype relationship in hereditary TTR amyloidosis;
4. there are risk factors for TTR amyloidosis in the population of our country. These hypotheses will be tested in our specific aims. In aim 1. we will describe the occurrence of TTR amyloidosis in the population of our country, including the hereditary and acquired forms of the disease.

In aim 2. we will determine and characterize high frequency TTR mutations in the population of our country.

In aim 3. we will determine a clinical profile of patients and we will try to enhance understanding of the natural history of TTR amyloidosis, including the variability, progression of the disease, and predisposing factors. We will evaluate patients' quality of life.

In aim 4. we will search for genotype-phenotype relationship in hereditary TTR amyloidosis.

In aim 5. we will evaluate effects of liver transplantation and other treatments on disease progression in our patients. We will advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients.

In aim 6. we will formulate novel hypotheses for further prospective studies. We will form a community of medical experts on amyloidosis (cardiologists, neurologist, internal medicine physicians, as well as other specialists) to create in the future national centre of amyloidosis in our country that would offer the highest standard of care and gather clinical data on this rare disease.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

Study Locations

• Poland
  • Warsaw, Poland, 04-628
    • National Institute of Cardiology

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All individuals with wild-type TTR amyloidosis and patients with a confirmed TTR mutation with or without a diagnosis of TTR amyloidosis will be eligible to be enrolled in the registry. Enrolment is voluntary and dependent on each subject's written informed consent.

Description

Inclusion Criteria:

• Adults over 18 years old with confirmed diagnosis of TTR amyloidosis

Exclusion Criteria:

• Refusal to participate in the study. Light-chain amyloidosis.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
disease progression	Signs and symptoms of the disease are evaluated, general examinations are conducted, and laboratory data, measures of neurologic and cardiovascular function, and quality of life are assessed according to the standard of care for patients.	From enrollment for at least 12 month

Collaborators and Investigators

• Sponsor: National Institute of Cardiology, Warsaw, Poland
• Collaborators: Pfizer

Study record dates

Study Major Dates

• Study Start (Actual): February 11, 2019
• Primary Completion (Estimated): October 1, 2025
• Study Completion (Estimated): November 1, 2025

Study Registration Dates

• First Submitted: November 27, 2024
• First Submitted That Met QC Criteria: November 27, 2024
• First Posted (Actual): December 3, 2024

Study Record Updates

• Last Update Posted (Actual): December 3, 2024
• Last Update Submitted That Met QC Criteria: November 27, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Keywords: transthyretin; ATTR; transthyretin amyloidosis; Transthyretin amyloid cardiomyopathy
• Additional Relevant MeSH Terms: Nervous System Diseases; Cardiovascular Diseases; Heart Diseases; Neuromuscular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Proteostasis Deficiencies; Amyloid Neuropathies; Amyloidosis, Familial; Cardiomyopathies; Amyloidosis; Amyloid Neuropathies, Familial
• Other Study ID Numbers: 53234273

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No