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

Completed

• Conditions: Fatty Acid Oxidation Disorder

• Registration Number: NCT04482049
• Lead Sponsor: Reneo Pharma Ltd

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.

Study Timeline

• Study First Submitted: 2020-07-14
• Study First Submitted QC: 2020-07-17
• Study First Posted: 2020-07-22
• Study Start: 2021-01-15
• Primary Completion: 2022-05-04
• Study Completion: 2022-05-04
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-16
• Last Update Posted: 2023-11-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 61

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (15)

Uniwersyteckie Centrum Kliniczne; 🇵🇱 Gdańsk, Poland

Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu; 🇨🇿 Prague, Czechia

Salford Royal NHS Trust; 🇬🇧 Salford, United Kingdom

Hôpital Pitié-Salpêtrière; 🇫🇷 Paris, France

Universita di Brescia; 🇮🇹 Brescia, Italy

Pest Megyei Flór Ferenc Kórház; 🇭🇺 Kistarcsa, Hungary

Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina; 🇮🇹 Messina, Italy

Hospital 12 de Octubre; 🇪🇸 Madrid, Spain

UZ Leuven University Hospitals Leuven; 🇧🇪 Leuven, Belgium

Rigshospitalet, Klinik for nerve- og muskelsygdomme; 🇩🇰 København, Denmark

Oregon Health & Science University (OHSU); 🇺🇸 Portland, Oregon, United States

Vanderbuilt University Medical Center; 🇺🇸 Nashville, Tennessee, United States

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n; 🇪🇸 Santiago De Compostela, Spain

University of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States

Medizinische Universität Innsbruck; 🇦🇹 Innsbruck, Austria