Analysis of the Instestinal Microbiome of Patients With Transthyretin Amyloidosis

NCT05196594 | Unknown

• 1 other identifier: 04456582
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

Amyloidosis is a serious systemic disease. Cardiac involvement has a great impact on prognosis and can occur in its three main forms: acquired monoclonal light chain, hereditary transthyretinal and senile form. The physiopathogenesis basically results from the deposition of an abnormal protein (amyloid) with toxic properties to the myocyte. The scope of this study will be a hereditary transthyretinal amyloidosis (hATTR). It is known that amyloidotic cardiomyopathy due to transthyretin deposit is an underdiagnosed cause of heart failure in adults, being an important differential diagnosis of diseases that manifest with increased myocardial thickness, such as hypertrophic cardiomyopathy or myocardial hypertrophy that accompanies the different degrees of aortic valve stenosis. The human gut microbiota is immensely diverse. It is estimated at around 100 trillion microorganisms, including bacteria, fungi and viruses. The microbiota of each individual is unique and determined by genetic factors such as age, type of delivery, use of antibiotics and diet. Recent data point to the hypothesis that the resilience of the intestinal microbiota plays a role in the process of disease development and health restoration.

Conditions

Amyloidosis, Hereditary, Transthyretin-Related; Microbial Colonization

Keywords

gut microbiome

Outcome Measures

Primary Outcomes (1)

• Gut Microbiome

  Gene number (diversity index)

  12 months

Study Arms (3)

Affected group by transthyretinal amyloidosis with cardiac involvement

collection of stools

Diagnostic Test: collection of stools for genetic analysis

Affected group by transthyretinal amyloidosis without cardiac involvement

collection of stools

Diagnostic Test: collection of stools for genetic analysis

healthy control group

collection of stools

Diagnostic Test: collection of stools for genetic analysis

Interventions

collection of stools for genetic analysis DIAGNOSTIC_TEST

Intestinal microbiome analysis

Affected group by transthyretinal amyloidosis with cardiac involvement; Affected group by transthyretinal amyloidosis without cardiac involvement; healthy control group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Three groups of patients: a group affected by transthyretinal amyloidosis with cardiac involvement, another group affected by transthyretinal amyloidosis but without cardiac involvement, and a third healthy control group who live and share eating habits similar to those of the patients.

You may qualify if:

• Diagnosis of transthyretin amyloidosis documented by pathogenic transthyretin mutation;
• evidence of cardiac involvement on echocardiogram or MRI; amyloid deposit confirmed by Congo red staining or presence of myocardial scintigraphy with grade 2 or 3 uptake (with distant monoclonal gammopathy of uncertain significance (MGUS);
• in the presence of MGUS it is necessary to confirm the TTR protein in the tissue by immunohistochemistry or mass spectrometry. Non-consanguineous living with patients;
• Sign an informed consent form.

You may not qualify if:

• Inflammatory bowel disease or persistent diarrhea for more than two weeks;
• Use of antibiotics and/or prebiotic or probiotic supplements in the two months prior to collection;
• Concurrent participation in other clinical studies.

Sponsors & Collaborators

• University of Sao Paulo General Hospital: lead

Study Sites (1)

University of Sao Paulo Medical School - The Heart Institute

São Paulo, 05403-000, Brazil

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Feces

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related; Communicable Diseases

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Infections; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 6, 2021
• First Posted: January 19, 2022
• Study Start: May 1, 2021
• Primary Completion: May 1, 2023
• Study Completion: May 31, 2023
• Last Updated: January 19, 2022

Record last verified: 2021-10

Locations

BR (1)