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

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

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

Study Overview

• Status: Completed
• Conditions: Fatty Acid Oxidation Disorder

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 Type: Observational
• Enrollment (Actual): 61

Contacts and Locations

Study Locations

• Austria
  • Innsbruck, Austria, A-6020
    • Medizinische Universität Innsbruck
• Belgium
  • Leuven, Belgium, 3000
    • UZ Leuven University Hospitals Leuven
• Czechia
  • Prague, Czechia, 12808
    • Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu
• Denmark
  • København, Denmark, 2100
    • Rigshospitalet, Klinik for nerve- og muskelsygdomme
• France
  • Paris, France, 75013
    • Hôpital Pitié-Salpêtrière
• Hungary
  • Kistarcsa, Hungary, H-2143
    • Pest Megyei Flor Ferenc Korhaz
• Italy
  • Brescia, Italy, 25123
    • Universita di Brescia
  • Messina, Italy, 98124
    • Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina
• Poland
  • Gdańsk, Poland, 80-952
    • Uniwersyteckie Centrum Kliniczne
• Spain
  • Madrid, Spain, 28041
    • Hospital 12 de Octubre
  • Santiago De Compostela, Spain, 15706
    • Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n
• United Kingdom
  • Salford, United Kingdom, M6 8HD
    • Salford Royal NHS Trust
• United States
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health & Science University (OHSU)
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15261
      • University of Pittsburgh
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Vanderbuilt University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients will be recruited from centres experienced in the identification and subsequent management of patients with long chain FAOD.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Reneo Pharma Ltd
• Investigators: Principal Investigator: Melanie Gillingham, PhD, RD, LD, Dept of Molecular and Medical Genetics, Oregon Health and Science University

Study record dates

Study Major Dates

• Study Start (Actual): January 15, 2021
• Primary Completion (Actual): May 4, 2022
• Study Completion (Actual): May 4, 2022

Study Registration Dates

• First Submitted: July 14, 2020
• First Submitted That Met QC Criteria: July 17, 2020
• First Posted (Actual): July 22, 2020

Study Record Updates

• Last Update Posted (Estimated): November 20, 2023
• Last Update Submitted That Met QC Criteria: November 16, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease
• Other Study ID Numbers: REN001-903

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No