Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies
Condition: Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency; Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency; Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency; Trifunctional Protein (TFP) Deficiency; Carnitine-acylcarnitine Translocase (CACT) Deficiency
Intervention: UX007
Intervention description: Administered orally (PO) with food or by gastrostomy tube, at the target dose range of 25-35% of total calories.
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 94.0
Sex: All
Minimum age: 6 Months
Healthy volunteers: No
Keywords: Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD); carnitine palmitoyltransferase (CPT I or CPT II) deficiency; very long chain acyl-CoA dehydrogenase (VLCAD) deficiency; long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency; trifunctional protein (TFP) deficiency; carnitine-acylcarnitine translocase (CACT) deficiency; Triheptanoin; UX007; C7

Summary:

      The primary objective of this study is to evaluate the long-term safety and efficacy of UX007
      in participants with LC-FAOD. The secondary objectives of this study are to evaluate the
      effect of UX007 on energy metabolism in LC-FAOD and evaluate the impact of UX007 on clinical
      events associated with LC-FAOD.
    

Eligibility criteria:

        Inclusion Criteria:

          1. Male or female, 6 months of age or older

          2. Prior participation in a clinical study assessing UX007/triheptanoin treatment for LC
             FAOD. Study Sponsors/Collaborators include: Oregon Health & Science University,
             University of Pittsburgh, and Ultragenyx Pharmaceutical (ClinicalTrials.gov
             Identifiers: NCT01379625, NCT01461304, and NCT01886378). Patients who received
             UX007/triheptanoin treatment as part of other clinical studies; investigator sponsored
             trials (IST); expanded access/compassionate use treatment programs; or patients who
             are treatment naïve (i.e., naïve to both UX007 and food-grade triheptanoin), have
             failed conventional therapy and, in the opinion of the Investigator and Sponsor, have
             documented clear unmet need, may also be eligible at the discretion of the Sponsor

          3. Confirmed diagnosis of LC-FAOD including: CPT I or CPT II deficiency, VLCAD
             deficiency, LCHAD deficiency, TFP deficiency, or CACT deficiency. Information on
             diagnosis will be obtained from medical records and should include confirmed diagnosis
             by results of acylcarnitine profiles, fatty acid oxidation probe studies in cultured
             fibroblasts, and/or mutation analysis

          4. 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

          5. 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.

          6. Females of child-bearing potential must have a negative urine pregnancy test at
             Baseline and be willing to have additional pregnancy tests during the study. Females
             considered not of child-bearing potential include those who have not experienced
             menarche, are post-menopausal (defined as having no menses for at least 12 months
             without an alternative medical cause), or are permanently sterile due to total
             hysterectomy, bilateral salpingectomy, or bilateral oophorectomy

          7. Participants of child-bearing potential or fertile males with partners of
             child-bearing potential who are sexually active must consent to use a highly effective
             method of contraception as determined by the Investigator from the period following
             the signing of the informed consent through 30 days after last dose of study drug

        Exclusion Criteria:

          1. Diagnosis of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency, short- or
             medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic
             acidemia

          2. Patient qualifies for any other clinical trial designed to progressively evaluate the
             safety and efficacy of triheptanoin in LC-FAOD

          3. Any known hypersensitivity to triheptanoin that, in the judgment of the Investigator,
             places the subject at increased risk for adverse effects

          4. Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant
             (self or partner) at any time during the study

          5. 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, or unwilling to discontinue prohibited medications