An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)



Status:Completed
Healthy:No
Age Range:Any
Updated:12/15/2018
Start Date:February 2014
End Date:August 2016

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An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

UX007-CL201 is an open-label Phase 2 study to assess the safety and clinical effects of UX007
in subjects with LC-FAOD. Following a 4 week run in period on current therapy, subjects will
cross over to daily UX007 treatment for an initial 24 week treatment period, followed by an
additional 54 week extension period. Approximately 30 subjects at least 6 months of age
inclusive with severe LC-FAOD, specifically VLCAD, LCHAD, CPT 2, or TFP disorders, will be
enrolled and treated with UX007.


Inclusion Criteria:

- Confirmed diagnosis of CPT II, VLCAD, LCHAD, or TFP deficiency, based on 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. 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

- 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 medium-chain
triglyceride (MCT) oil. The treatment regimen (including diet) should be stable for
the last 60 days to assure that changes in the subject's 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 Creatine Kinase (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) not associated with an acute rhabdomyolysis event, 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 of
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
cardiomyopathy [CM], requiring emergency room [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
events in the last year that require ongoing prophylactic management, OR
recurrent symptomatic hypoglycemia (blood glucose levels or clinical symptoms of
hypoglycemia) at home requiring intervention ≥ 2 times per week,

- Evidence of Functional Cardiomyopathy (with echocardiogram (ECHO) within past 90
days documenting poor ejection fraction [EF]) requiring ongoing medical
management

- Females who have reached menarche must have a negative pregnancy test at Screening. If
sexually active, subject must be willing to use acceptable method of contraception and
have additional pregnancy tests during the study.

Exclusion Criteria:

- Diagnosis of carnitine-acylcarnitine translocase (CACT) 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
We found this trial at
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
University of Utah Research is a major component in the life of the U benefiting...
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1211 Medical Center Dr
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Vanderbilt Univ Med Ctr Vanderbilt University Medical Center (VUMC) is a comprehensive healthcare facility dedicated...
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4401 Penn Avenue
Pittsburgh, Pennsylvania 15224
412-692-5325
Children's Hospital of Pittsburgh of UPMC UPMC is one of the leading nonprofit health systems...
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Birmingham, 35233
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300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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225 E Chicago Ave
Chicago, Illinois 60611
(312) 227-4000
Ann & Robert H. Lurie Children's Hospital of Chicago Ann & Robert H. Lurie Children
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Tampa, Florida 33606
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111 Michigan Ave NW
Washington, District of Columbia
(202) 476-5000
Childrens National Medical Center As the nation’s children’s hospital, the mission of Children’s National Medical...
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