Fatty Acid Oxidation Disorder
Conditions
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.
Interventions
None listed
Sponsors
Reneo Pharma Ltd
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD | Week 16 | Change from baseline in 12MWT |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 | Change from baseline in FAOD-Muscle Symptom Inventory |
Countries
Austria, Belgium, Czechia, Denmark, France, Hungary, Italy, Poland, Spain, United Kingdom, United States
Outcome results
None listed