Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The purpose of the study is to collect information on disease characteristics from adult patients diagnosed with fatty acid oxidation disorders (FAOD).
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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 |
| 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 |
Not provided
Inclusion Criteria:
A genetically confirmed diagnosis of one of the following:
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:
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
Not provided
Not provided
Not provided
Patients will be recruited from centres experienced in the identification and subsequent management of patients with long chain FAOD.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Melanie Gillingham, PhD, RD, LD | Dept of Molecular and Medical Genetics, Oregon Health and Science University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Oregon Health & Science University (OHSU) | Portland | Oregon | 97239 | United States | ||
| University of Pittsburgh |
Not provided
Not provided
Not provided
| Pittsburgh |
| Pennsylvania |
| 15261 |
| United States |
| Vanderbuilt University Medical Center | Nashville | Tennessee | 37232 | United States |
| Medizinische Universität Innsbruck | Innsbruck | A-6020 | Austria |
| UZ Leuven University Hospitals Leuven | Leuven | 3000 | Belgium |
| Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu | Prague | 12808 | Czechia |
| Rigshospitalet, Klinik for nerve- og muskelsygdomme | Copenhagen | 2100 | Denmark |
| Hôpital Pitié-Salpêtrière | Paris | 75013 | France |
| Pest Megyei Flór Ferenc Kórház | Kistarcsa | H-2143 | Hungary |
| Universita di Brescia | Brescia | 25123 | Italy |
| Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina | Messina | 98124 | Italy |
| Uniwersyteckie Centrum Kliniczne | Gdansk | 80-952 | Poland |
| Hospital 12 de Octubre | Madrid | 28041 | Spain |
| Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n | Santiago de Compostela | 15706 | Spain |
| Salford Royal NHS Trust | Salford | M6 8HD | United Kingdom |