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Trial record 2 of 30 for:    fatty acid oxidation disorders

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT04482049
Recruitment Status : Active, not recruiting
First Posted : July 22, 2020
Last Update Posted : January 12, 2022
Information provided by (Responsible Party):
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.

Condition or disease
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.

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD)
Actual Study Start Date : January 27, 2021
Estimated Primary Completion Date : May 2022
Estimated Study Completion Date : May 2022

Primary Outcome Measures :
  1. To evaluate change in function as measured by 12 minute walk test in adult subjects with long-chain fatty acid oxidation disorders [ Time Frame: Week 16 ]
    Change from baseline 12mwt

Secondary Outcome Measures :
  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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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 LC-FAOD.

Inclusion Criteria:

  1. A diagnosis of one of the following genetically confirmed:

    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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04482049

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United States, Oregon
Oregon Health & Science University (OHSU)
Portland, Oregon, United States, 97239
United States, Pennsylvania
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15261
United States, Tennessee
Vanderbuilt University Medical Center
Nashville, Tennessee, United States, 37232
Medizinische Universität Innsbruck
Innsbruck, Austria, A-6020
UZ Leuven University Hospitals Leuven
Leuven, Belgium, 3000
Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu
Prague, Czechia, 12808
Rigshospitalet, Klinik for nerve- og muskelsygdomme
København, Denmark, 2100
Hôpital Pitié-Salpêtrière
Paris, France, 75013
Pest Megyei Flór Ferenc Kórház
Kistarcsa, Hungary, H-2143
Universita di Brescia
Brescia, Italy, 25123
Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina
Messina, Italy, 98124
Uniwersyteckie Centrum Kliniczne
Gdańsk, Poland, 80-952
Hospital 12 de Octubre
Madrid, Spain, 28041
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n
Santiago De Compostela, Spain, 15706
United Kingdom
Salford Royal NHS Trust
Salford, United Kingdom, M6 8HD
Sponsors and Collaborators
Reneo Pharma Ltd
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Principal Investigator: Melanie Gillingham, PhD Dept of Molecular and Medical Genetics, Oregon Health and Science University
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Responsible Party: Reneo Pharma Ltd Identifier: NCT04482049    
Other Study ID Numbers: REN001-903
First Posted: July 22, 2020    Key Record Dates
Last Update Posted: January 12, 2022
Last Verified: January 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Pathologic Processes