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

Fatty Acid Oxidation Disorder Clinical Trial

— FORWARD  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04482049
• Other study ID #: REN001-903
• Status: Completed
• Start date: January 15, 2021
• Est. completion date: May 4, 2022

Study information

• Verified date: November 2023
• Source: Reneo Pharma Ltd
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 61
• Est. completion date: May 4, 2022
• Est. primary completion date: May 4, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Fatty Acid Oxidation Disorder

Locations

Country	Name	City	State
Austria	Medizinische Universität Innsbruck	Innsbruck
Belgium	UZ Leuven University Hospitals Leuven	Leuven
Czechia	Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu	Prague
Denmark	Rigshospitalet, Klinik for nerve- og muskelsygdomme	København
France	Hôpital Pitié-Salpêtrière	Paris
Hungary	Pest Megyei Flór Ferenc Kórház	Kistarcsa
Italy	Universita di Brescia	Brescia
Italy	Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina	Messina
Poland	Uniwersyteckie Centrum Kliniczne	Gdansk
Spain	Hospital 12 de Octubre	Madrid
Spain	Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n	Santiago De Compostela
United Kingdom	Salford Royal NHS Trust	Salford
United States	Vanderbuilt University Medical Center	Nashville	Tennessee
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	Oregon Health & Science University (OHSU)	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Reneo Pharma Ltd

Countries where clinical trial is conducted

United States,  Austria,  Belgium,  Czechia,  Denmark,  France,  Hungary,  Italy,  Poland,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD	Change from baseline in 12MWT	Week 16
Secondary	To evaluate change in symptoms related to FAOD using a newly developed muscle symptom questionnaire specifically designed for adult patients with long chain FAOD	Change from baseline in FAOD-Muscle Symptom Inventory	Week 16