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Completed

NCT Number: NCT04482049

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

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

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Key information

Conditions

Fatty Acid Oxidation Disorder

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medizinische Universität Innsbruck, Innsbruck, Austria

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • A genetically confirmed diagnosis of one of the following:
  • Carnitine palmitoyltransferase 2 deficiency
  • Very long-chain Acyl-CoA dehydrogenase deficiency
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency
  • A stable treatment regimen for at least 30 days
  • Ambulatory and able to perform the study exercise test, using walking aids if necessary
  • 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

  • Unstable or poorly controlled disease as determined by one or more of the following:
  • Presence of symptoms of acute rhabdomyolysis with clinically significant elevations in serum CK
  • Evidence of acute crisis from their underlying disease
  • Currently taking a PPAR agonist
  • 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
  • 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
  • Pregnant or nursing females

Treatment and study plan

Primary outcomes

  1. To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD

    Time frame: Week 16

    Change from baseline in 12MWT

Secondary outcomes

  1. To evaluate change in symptoms related to FAOD using a newly developed muscle symptom questionnaire specifically designed for adult patients with long chain FAOD

    Time frame: Week 16

    Change from baseline in FAOD-Muscle Symptom Inventory

Sponsors and collaborators

Lead sponsor

Reneo Pharma Ltd

Industry

Registry information

Official study title

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

Acronym: FORWARD

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Jul 22, 2020
Registry last updated
Nov 18, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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