NCT04482049

Brief Summary

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

Trial Health

98
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
61

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jan 2021

Geographic Reach
11 countries

15 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 14, 2020

Completed
8 days until next milestone

First Posted

Study publicly available on registry

July 22, 2020

Completed
6 months until next milestone

Study Start

First participant enrolled

January 15, 2021

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 4, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 4, 2022

Completed
Last Updated

November 18, 2023

Status Verified

November 1, 2023

Enrollment Period

1.3 years

First QC Date

July 14, 2020

Last Update Submit

November 16, 2023

Conditions

Fatty Acid Oxidation Disorder

Outcome Measures

Primary Outcomes (1)

  • 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 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

    Week 16

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Oregon Health & Science University (OHSU)

Portland, Oregon, 97239, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15261, United States

Location

Vanderbuilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Medizinische Universität Innsbruck

Innsbruck, A-6020, Austria

Location

UZ Leuven University Hospitals Leuven

Leuven, 3000, Belgium

Location

Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu

Prague, 12808, Czechia

Location

Rigshospitalet, Klinik for nerve- og muskelsygdomme

Copenhagen, 2100, Denmark

Location

Hôpital Pitié-Salpêtrière

Paris, 75013, France

Location

Pest Megyei Flór Ferenc Kórház

Kistarcsa, H-2143, Hungary

Location

Universita di Brescia

Brescia, 25123, Italy

Location

Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina

Messina, 98124, Italy

Location

Uniwersyteckie Centrum Kliniczne

Gdansk, 80-952, Poland

Location

Hospital 12 de Octubre

Madrid, 28041, Spain

Location

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n

Santiago de Compostela, 15706, Spain

Location

Salford Royal NHS Trust

Salford, M6 8HD, United Kingdom

Location

Study Officials

  • Melanie Gillingham, PhD, RD, LD

    Dept of Molecular and Medical Genetics, Oregon Health and Science University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 14, 2020

First Posted

July 22, 2020

Study Start

January 15, 2021

Primary Completion

May 4, 2022

Study Completion

May 4, 2022

Last Updated

November 18, 2023

Record last verified: 2023-11

Locations

DK(1)AU(1)IT(2)CZ(1)BE(1)PL(1)FR(1)ES(2)HU(1)US(3)GB(1)