Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis

NCT03431896 | Completed

• 1 other identifier: 17-1301
• Study Type: observational
• Target: 37
• Locations: 1 country
• Sites: 1

Brief Summary

This study measures circulating, misfolded ATTR oligomers in asymptomatic ATTRm amyloidosis genetic carriers longitudinally over five years.

Conditions

Amyloidosis; Amyloid; Amyloid Neuropathies, Familial; Amyloid Cardiomyopathy; Amyloid - Primary; Transthyretin Amyloidosis; AL Amyloidosis

Outcome Measures

Primary Outcomes (1)

• Average % change in oligomers in patients with new onset TTR amyloid symptoms

  Change (%) for oligomer level at the time of TTR amyloid symptoms compared to baseline

  Annually over 5 years

Secondary Outcomes (1)

• % change of oligomer levels relative to baseline level in patients with ATTR specific medication changes

  Annually over 5 years

Study Arms (1)

Primary

1.) To evaluate the relative amount of misfolded ATTR oligomers in asymptomatic ATTR amyloid genetic carriers and correlate their levels with clinical symptoms and outcomes. 1. Determine if misfolded ATTR oligomers are elevated compared to healthy control data obtained by Scripps during probe development 2. Describe the levels longitudinally 3. Determine if treatment with ATTR-specific medications (examples: diflunisal, doxycycline, ursodiol, tauroursodeoxycholic acid (TUDCA), green tea extract, curcumin, tafamidis, inotersen, patisiran) lead to reduction in the probe levels in those with elevated levels at baseline

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be identified through clinical practice and from Amyloid support groups

You may qualify if:

• Patients with known hereditary ATTR amyloidosis genetic mutations as identified by genetic testing.

You may not qualify if:

• Patients with ATTR amyloidosis identified as wild-type.

Sponsors & Collaborators

• The Cleveland Clinic: lead

Study Sites (1)

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Whole Blood

MeSH Terms

Conditions

Amyloidosis; Alzheimer Disease; Amyloid Neuropathies, Familial; Amyloidosis, Hereditary, Transthyretin-Related; Immunoglobulin Light-chain Amyloidosis

Condition Hierarchy (Ancestors)

Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Neurocognitive Disorders; Mental Disorders; Heredodegenerative Disorders, Nervous System; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Neoplasms, Plasma Cell; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Immunoproliferative Disorders; Immune System Diseases; Paraproteinemias

Study Officials

• Mazen A Hanna, MD

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 7, 2018
• First Posted: February 13, 2018
• Study Start: February 1, 2018
• Primary Completion: March 9, 2026
• Study Completion: March 9, 2026
• Last Updated: March 12, 2026

Record last verified: 2026-03

Locations

US (1)