A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD)

Reneo Pharma Ltd15 sites in 11 countries61 target enrollmentJanuary 15, 2021

ConditionsFatty Acid Oxidation Disorder

Overview

Phase: N/A
Intervention: Not specified
Conditions: Fatty Acid Oxidation Disorder
Sponsor: Reneo Pharma Ltd
Enrollment: 61
Locations: 15
Primary Endpoint: To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD
Status: Completed
Last Updated: 2 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief Summary

The purpose of the study is to collect information on disease characteristics from adult patients diagnosed with fatty acid oxidation disorders (FAOD).

Detailed Description

In this study there will be no drug intervention. The study will include a Baseline visit and a follow up visit scheduled at Month 4. At these visits medical history, safety assessments, concomitant medications, exercise tests and quality of life questionnaire data will be collected.

Registry

clinicaltrials.gov

Start Date

January 15, 2021

End Date

May 4, 2022

Last Updated

2 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Reneo Pharma Ltd

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•A genetically confirmed diagnosis of one of the following:
•Carnitine palmitoyltransferase 2 deficiency
•Very long-chain Acyl-CoA dehydrogenase deficiency
•Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
•Trifunctional protein deficiency
•A stable treatment regimen for at least 30 days
•Ambulatory and able to perform the study exercise test, using walking aids if necessary
•Willing and able to personally sign and date an informed consent document indicating that the subject has been informed of all pertinent aspects of the study

Exclusion Criteria

•Unstable or poorly controlled disease as determined by one or more of the following:
•Presence of symptoms of acute rhabdomyolysis with clinically significant elevations in serum CK
•Evidence of acute crisis from their underlying disease
•Currently taking a PPAR agonist
•Have motor abnormalities other than those related to the fatty acid oxidation disorder that could interfere with the study procedures, as determine by the investigator
•Evidence of significant concomitant medical or psychiatric disease that in the opinion of the Investigator may interfere with the conduct or safety of this study
•Pregnant or nursing females

Outcomes

Primary Outcomes

To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD

Time Frame: Week 16

Change from baseline in 12MWT

Secondary Outcomes

To evaluate change in symptoms related to FAOD using a newly developed muscle symptom questionnaire specifically designed for adult patients with long chain FAOD(Week 16)