Monitoring of Early Disease Progression… | Clinical Trial

Key information

Conditions

Amyloidosis AL Amyloidosis Alzheimer Disease Amyloid Amyloid - Primary Amyloid Cardiomyopathy Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis, Familial Amyloidosis, Hereditary, Transthyretin-Related Brain Diseases Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Immune System Diseases Immunoglobulin Light-chain Amyloidosis Immunoproliferative Disorders Lymphoproliferative Disorders Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Neoplasms Neoplasms by Histologic Type Neoplasms, Plasma Cell Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Paraproteinemias Peripheral Nervous System Diseases Proteostasis Deficiencies Tauopathies Transthyretin Amyloidosis

Sex eligibility

All sexes

Study type

Observational

Primary location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

About this study

Recent advances in genetic testing have allowed for pathogenic mutation identification in family members of affected individuals prior to onset of symptoms. While the presence of mutation and the corresponding TTR kinetic stability have been directly linked to disease development, the molecular drivers of tissue specific degeneration have not been defined. We hypothesize that soluble misfolded TTR oligomer species may be circulating within the blood of these patients possibly years prior to amyloid deposition and could serve as an early biomarker and/or driver for disease development. In this line, The Scripps Research Institute has developed a peptide-based probe that specifically labels and integrates into misfolded TTR oligomers allowing the relative circulating concentration in the bloodstream to be determined. Longitudinal monitoring of untreated, asymptomatic TTR amyloid genetic carriers utilizing the Scripps probe is likely to provide novel insight into early disease progression. We also plan to utilize the Scripps probe to monitor disease progression in TTR amyloid genetic carriers currently undergoing treatment by observing how treatments affect the circulating misfolded TTR oligomers. Through enhanced understanding of early disease progression and treatment efficacy, our hope is to limit amyloid accumulation in cardiac and nerve tissue and delay the development of the invariably fatal TTR amyloid cardiomyopathy/neuropathy.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

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

Exclusion criteria

Patients with ATTR amyloidosis identified as wild-type.

Treatment and study plan

Primary outcomes

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

Time frame: Annually over 5 years

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

Secondary outcomes

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

Time frame: Annually over 5 years

Change (%) for oligomer level at the time of ATTR specific medication changes compared to baseline

Sponsors and collaborators

Lead sponsor

The Cleveland Clinic

Other

Registry information

Acronym: MED-hATTR

Important dates

Study start: 2018
Primary completion: 2026
Study completion: 2026
First posted: Feb 13, 2018
Registry last updated: Mar 12, 2026

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.

Published trials that share one or more normalized conditions with this study.

Completed