Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy

NCT02908724 | Completed

• 1 other identifier: FAB-ECG
• Study Type: observational
• Target: 66
• Locations: 0 countries
• Sites: N/A

Brief Summary

The purpose of this study was to assess the progression of cardiac involvement in adult patients with Fabry Disease (FD), in the unique Danish Fabry cohort and comparing those FD patients receiving primary therapy vs. those that did not. The hypothesis is, that we will not be able to see a significant positive difference in cardiac involvement in those FD patient who received FD specific therapy vs. those that did not.

Conditions

Fabry Disease

Keywords

Familial cardiomyopathies; Hypertrophic cardiomyopathy; Left ventricular hypertrophy

Outcome Measures

Primary Outcomes (3)

• Left Ventricular Mass Index

  Measured by Transthoracic Echocardiography using a Philips IE 33. Two-dimensional parasternal images were used to determine left ventricular chamber dimensions and wall thickness; LV mass was calculated by the American Society of Echocardiography (ASE) equation and indexed to body surface area. Median \[range\] is evaluated and presented.

  Up to 13 years follow-up

• Left Ventricular Hypertrophy - Sokolow-Lyon voltage criteria

  12-lead electrocardiography (ECG) was performed using a Schiller Cardiovit AT-2 (Schiller AG, Dietikon, Switzerland). Left ventricular hypertrophy was evaluated by Sokolow-Lyon voltage criteria (S in V1 + R in V5/V6 ≥ 35 mm). Median \[range\] and frequency (%) of hypertrophy is evaluated and presented.

  Up to 13 years follow-up

• Left Ventricular Hypertrophy - Cornell voltage product criteria

  12-lead ECG was performed using a Schiller Cardiovit AT-2 (Schiller AG, Dietikon, Switzerland). Left ventricular hypertrophy was evaluated by Cornell product criteria (R in aVL + S in V3 (+6 mm for women) x QRS duration \> 2440 mm·ms). Median \[range\] and frequency (%) of hypertrophy is evaluated and presented.

  Up to 13 years follow-up

Secondary Outcomes (2)

• Clinical outcome

  Up to 13 years follow-up

• Arrhythmias

  Up to 13 years follow-up

Study Arms (2)

ERT receiving patients

Patients that were receiving specific treatment for FD (ERT, enzyme replacement therapy, Fabrazyme or Replagal) during the observational time (n= 47).

non-ERT receiving patients

Patients that were not receiving specific treatment for FD (ERT, enzyme replacement therapy, Fabrazyme or Replagal) during the observational time (n= 19).

Eligibility Criteria

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

Study Population

Sixty-six patients with FD

You may qualify if:

• Genetically verified Fabry disease
• Age at baseline \>18 years
• Baseline cardiac examination performed

You may not qualify if:

• Switch from FD specific treatment (Fabrazyme or Replagal) to no FD specific treatment

Sponsors & Collaborators

• Ulla Feldt-Rasmussen: lead

MeSH Terms

Conditions

Fabry Disease; Cardiomyopathy, Hypertrophic; Hypertrophy, Left Ventricular

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Cardiomyopathies; Heart Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Ulla Feldt-Rasmussen, MD,DMSc,Prof

  Department of Medical Endocrinology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor, Chief physician

Study Record Dates

• First Submitted: April 4, 2016
• First Posted: September 21, 2016
• Study Start: November 1, 2014
• Primary Completion: November 1, 2014
• Study Completion: February 9, 2016
• Last Updated: October 16, 2018

Record last verified: 2018-10

Data Sharing

• IPD Sharing: Will not share