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

Reneo Pharma

Status: Completed

Conditions: Fatty Acid Oxidation Disorder

Study type: Observational

Funder types: Industry

Identifiers

NCT04482049

REN001-903

Details and patient eligibility

About

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

Full 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.

Enrollment: 61 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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