Status:
COMPLETED
A Prospective Study of the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders
Lead Sponsor:
Reneo Pharma Ltd
Conditions:
Fatty Acid Oxidation Disorder
Eligibility:
All Genders
18+ years
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 m...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
January 15 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 4 2022
Estimated Enrollment :
61 Patients enrolled
Trial Details
Trial ID
NCT04482049
Start Date
January 15 2021
End Date
May 4 2022
Last Update
November 18 2023
Active Locations (15)
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1
Oregon Health & Science University (OHSU)
Portland, Oregon, United States, 97239
2
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15261
3
Vanderbuilt University Medical Center
Nashville, Tennessee, United States, 37232
4
Medizinische Universität Innsbruck
Innsbruck, Austria, A-6020