Clinical trial NCT04482049: A Prospective Study of the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders
Official title: A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fatty Acid Oxidation Disorder
Lead sponsor: OnKure, Inc.
Sponsor class: INDUSTRY
First posted: 2020-07-22
Enrollment: 61
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: To evaluate change in function as measured by 12 minute walk test in adult subjects with long chain FAOD
timeFrame: Week 16
Secondary outcomes:
measure: To evaluate change in symptoms related to FAOD using a newly developed muscle symptom questionnaire specifically designed for adult patients with long chain FAOD
timeFrame: Week 16
Other outcomes:
Locations:
city: Portland
country: United States
facility: Oregon Health & Science University (OHSU)
state: Oregon
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Nashville
country: United States
facility: Vanderbuilt University Medical Center
state: Tennessee
city: Innsbruck
country: Austria
facility: Medizinische Universität Innsbruck
city: Leuven
country: Belgium
facility: UZ Leuven University Hospitals Leuven
city: Prague
country: Czechia
facility: Vseobecna fakultni nemocnice v Praze, Klinika pediatrie a dedicnych poruch metabolizmu
city: København
country: Denmark
facility: Rigshospitalet, Klinik for nerve- og muskelsygdomme
city: Paris
country: France
facility: Hôpital Pitié-Salpêtrière
city: Kistarcsa
country: Hungary
facility: Pest Megyei Flór Ferenc Kórház
city: Brescia
country: Italy
facility: Universita di Brescia
city: Messina
country: Italy
facility: Azienda Ospedaliera Universitaria Policlinico "G. Martino" di Messina
city: Gdańsk
country: Poland
facility: Uniwersyteckie Centrum Kliniczne
city: Madrid
country: Spain
facility: Hospital 12 de Octubre
city: Santiago De Compostela
country: Spain
facility: Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Complejo Hospitalario Universitario de Santiago Travesía de Choupana s/n
city: Salford
country: United Kingdom
facility: Salford Royal NHS Trust
Study officials:
affiliation: Dept of Molecular and Medical Genetics, Oregon Health and Science University
name: Melanie Gillingham, PhD, RD, LD
role: PRINCIPAL_INVESTIGATOR
References: