A Prospective Study of the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders

Overview

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

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

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: May 4, 2022

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.

Clinical Trial Outcome Measures

Primary Measures

  • 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 Measures

  • To evaluate change in symptoms related to FAOD using a newly developed muscle symptom questionnaire specifically designed for adult patients with long chain FAOD
    • Time Frame: Week 16
    • Change from baseline in FAOD-Muscle Symptom Inventory

Participating in This Clinical Trial

Inclusion Criteria

1. A genetically confirmed diagnosis of one of the following: 1. Carnitine palmitoyltransferase 2 deficiency 2. Very long-chain Acyl-CoA dehydrogenase deficiency 3. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 4. Trifunctional protein deficiency 2. A stable treatment regimen for at least 30 days 3. Ambulatory and able to perform the study exercise test, using walking aids if necessary 4. 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:

1. Unstable or poorly controlled disease as determined by one or more of the following: 1. Presence of symptoms of acute rhabdomyolysis with clinically significant elevations in serum CK 2. Evidence of acute crisis from their underlying disease 2. Currently taking a PPAR agonist 3. 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 4. 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 5. Pregnant or nursing females

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Reneo Pharma Ltd
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Melanie Gillingham, PhD, RD, LD, Principal Investigator, Dept of Molecular and Medical Genetics, Oregon Health and Science University

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