NCT02840669

Brief Summary

Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects \~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy. This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
40

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Jul 2016

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2016

Completed
18 days until next milestone

First Submitted

Initial submission to the registry

July 19, 2016

Completed
2 days until next milestone

First Posted

Study publicly available on registry

July 21, 2016

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2018

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2018

Completed
Last Updated

December 10, 2018

Status Verified

December 1, 2018

Enrollment Period

1.9 years

First QC Date

July 19, 2016

Last Update Submit

December 7, 2018

Conditions

Friedreich's Ataxia

Keywords

Cardiomyopathy

Outcome Measures

Primary Outcomes (5)

  • Exercise-stress test

    2 hours

  • Cardiac magnetic resonance imaging (CMR)

    2 hours

  • Echocardiogram

    2 hours

  • Level of cardiac biomarkers in serum

    30 minutes

  • Fatigue Severity Scale

    30 minutes

Study Arms (2)

Friedreich's Ataxia

OTHER
Procedure: Cardiac magnetic resonance imaging (CMR)Procedure: Exercise-stress testProcedure: Echocardiography (ECHO)Procedure: Cardiac-related blood studies

Healthy Volunteers (Controls)

OTHER
Procedure: Cardiac magnetic resonance imaging (CMR)Procedure: Exercise-stress testProcedure: Echocardiography (ECHO)Procedure: Cardiac-related blood studies

Interventions

Cardiac magnetic resonance imaging (CMR)PROCEDURE
Friedreich's AtaxiaHealthy Volunteers (Controls)
Exercise-stress testPROCEDURE
Friedreich's AtaxiaHealthy Volunteers (Controls)
Echocardiography (ECHO)PROCEDURE
Friedreich's AtaxiaHealthy Volunteers (Controls)
Cardiac-related blood studiesPROCEDURE
Friedreich's AtaxiaHealthy Volunteers (Controls)

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Males and females;
  • ≥ 18 years old;
  • Willing and able to provide informed consent;
  • Definitive diagnosis of FA, based on clinical phenotype and genotype;
  • With a hypertrophic cardiomyopathy;
  • Ability to complete study assessments.

You may not qualify if:

  • Symptoms of cardiac failure;
  • Moderate to severe atrial or ventricular arrhythmias;
  • History of angina pectoris;
  • Inability to undergo cardiac MRI;
  • Clinical history or evidence of diabetes;
  • Abnormal kidney function;
  • Females who are pregnant or nursing;
  • Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
  • Inability to sit with back support;
  • Inability to undergo exercise test;
  • Inability to comply with all study requirements;
  • Unaffiliated to any French health insurance or equivalent.
  • Healthy males and females;
  • ≥ 18 years old;
  • Willing and able to provide informed consent;
  • +10 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Pitié-Salpêtrière, AP-HP

Paris, 75013, France

Location

MeSH Terms

Conditions

Friedreich AtaxiaCardiomyopathies

Interventions

Exercise Test

Condition Hierarchy (Ancestors)

Spinocerebellar DegenerationsCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesSpinal Cord DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesHeart DiseasesCardiovascular Diseases

Intervention Hierarchy (Ancestors)

Heart Function TestsDiagnostic Techniques, CardiovascularDiagnostic Techniques and ProceduresDiagnosisRespiratory Function TestsDiagnostic Techniques, Respiratory SystemErgometryInvestigative Techniques

Study Officials

  • Alexandra Durr, MD, PhD

    Groupe Hospitalier Pitié-Salpêtrière, APHP

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
FACTORIAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 19, 2016

First Posted

July 21, 2016

Study Start

July 1, 2016

Primary Completion

June 1, 2018

Study Completion

September 1, 2018

Last Updated

December 10, 2018

Record last verified: 2018-12

Locations

FR(1)