A safety and efficacy study in patients with Long-Chain Fatty AcidOxidation Disorders receiving UX007 treatment

Phase 1

Active, not recruiting

• Conditions: ong-Chain Fatty Acid Oxidation Disorders (LC-FAOD); Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2013-004830-14-GB
• Lead Sponsor: ltragenyx Pharmaceutical Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2014-02-13
• Last Update Posted: 2017-04-03

Recruitment & Eligibility

• Status: Not Recruiting
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

• Confirmed diagnosis of one of the three most common LC-FAOD disorders: CPT II deficiency, VLCAD deficiency, LCHAD deficiency and TFP deficiency. Diagnosis must be confirmed by results of acylcarnitine profiles, fatty acid oxidation probe studies in cultured fibroblasts, and/or mutation analysis obtained from medical records.
• Male or female, at least 6 months of age
• Willing and able to complete all aspects of the study through the end of the study, including visits and tests, documentation of symptoms and diet, and administration of study medications. If a minor, have a caregiver(s) willing and able to assist in all applicable study requirements.
• Provide written informed consent (subjects aged = 18 years), or provide written assent (where appropriate) and have a legally authorized representative willing and able to provide written informed consent, after the nature of the study has been explained and prior to any research-related procedures
• Willing and able to provide access to medical records charting the last 18-24 months of care prior to the study initiation, or from birth for those subjects less than 18 months of age
• No history of serious adverse reactions or known hypersensitivity to triheptanoin
• Currently managed on a stable treatment regimen (including diet), which may include low-fat/high carbohydrate diet, avoidance of fasting, carnitine and/or MCT oil. The treatment regimen (including diet) should be stable for the last 60 days to assure that changes in the subjects' condition are not confounded by recent changes in the treatment regimen that could affect the 4 week run-in evaluation period. Once
study drug treatment has started, must be willing to maintain all aspects of the subject's treatment regimen and diet unchanged, other than discontinuation of MCT oil, in order to avoid potential variability of response due to variations in dietary intake.
• Have severe LC-FAOD, as evidenced by ANY ONE of the following significant clinical manifestations despite therapy:
- Chronic Elevated CK with Major Clinical Events: Elevated mean CK levels over the last 6 months -1 year (defined as = 2X upper limit of age/gender-matched normal, or = 500 units/L if age-matched reference not established) not associated with an acute rhabdomyolysis event, AND at least two major clinical events (as defined in the protocol) in the last year, or at least four major clinical events over the last two
years,
-Episodic Elevated CK with Reported Muscle Dysfunction: Episodes of elevated CK levels over the last 6 months -1 year (defined as = 2X upper limit of age/gender-matched normal, or = 500 units/L if age-matched reference is not established), AND patient report of frequent muscle fatigue, exercise intolerance, or limitation of exercise,
- Highly Elevated CK but Asymptomatic: More seriously elevated mean CK levels (defined as = 4X upper limit of age/gender-matched normal, or = 1000 units/L if age-matched reference is not established) consistent with substantial chronic muscle rupture over the last 6 months-1 year,
regardless of frequency hospitalizations or ER events,
- Frequent Severe Major Medical Episodes (at least 3 within the past year, or 5 within 2 years) of hypoglycemia, rhabdomyolysis, or exacerbation of CM, requiring ER/acute care visits or hospitalizations,
- Severe Susceptibility to Hypoglycemia (serum glucose <60 mg/dL) after short periods of fasting (less than 4-12 hours, depending on age), with at least 2 e

Exclusion Criteria

• Diagnosis of CACT deficiency, or CPT I
• Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia
• Enrolled in a clinical study involving concurrent use of an investigational drug product within the last 30 days, or unwilling to discontinue use of a prohibited medication or other substance that may confound study objectives
• Unwilling to sign informed consent or release of medical records
• Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the Investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified