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Eligibility
for people ages 6 months and up
Location
at San Francisco, California and other locations
Dates
study started
Principal Investigator

Description

Summary

This open-label long-term safety and efficacy study will provide an opportunity for LC-FAOD patients to be treated with UX007 for up to 3 years or until market approval under a single standardized protocol. The subjects may have participated in other studies or treatment programs with UX007/triheptanoin but would be consolidated into one program for long-term maintenance and consistent safety monitoring. The study is designed to obtain long-term safety information and evaluate maintenance of efficacy in a diverse LC-FAOD population.

Official Title

An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies

Keywords

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 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Triheptanoin UX007 C7

Eligibility

You can join if…

Open to people ages 6 months and up

  1. Male or female, 6 months of age or older
  2. Prior participation in a clinical study assessing UX007/triheptanoin treatment for LC-FAOD. Patients who received UX007/triheptanoin treatment as part of other clinical studies, investigator sponsored trials (IST), or expanded access/compassionate use treatment programs; or patients who have failed conventional therapy and, in the opinion of the investigator and sponsor, have documented severe unmet need, may also be eligible at the discretion of the sponsor.
  3. Confirmed diagnosis of LC-FAOD including: 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, or carnitine-acylcarnitine translocase (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 who have reached menarche must have a negative pregnancy test at Baseline and be willing to have additional pregnancy tests during the study.
  7. Participants of child‐bearing potential or with partners of child-bearing potential who have not undergone a bilateral salpingo‐oophorectomy and are sexually active must consent to use a highly effective method of contraception as determined by the site investigator (i.e. oral hormonal contraceptives, patch hormonal contraceptives,vaginal ring, intrauterine device, physical double barrier methods, surgical hysterectomy, vasectomy, tubal ligation or true abstinence [when this is in line with the preferred and usual lifestyle of the subject], which means not having sex because the subject chooses not to), from the period following the signing of the informed consent through 30 days after last dose of study drug.

You CAN'T join if...

  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. History of serious adverse reactions or known hypersensitivity to triheptanoin 3.Pregnant and/or breastfeeding an infant at Screening or planning to become pregnant (self or partner) at any time during the study 4. 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.

Locations

  • Children's National Medical Center
    Washington, District of Columbia, 20010, USA
  • University of Southern Florida
    Tampa, Florida, 33606, USA
  • Ann & Robert H. Lurie Children's Hospital of Chicago
    Chicago, Illinois, 60611, USA
  • Boston Children's Hospital
    Boston, Massachusetts, 02215, USA
  • Children's Hospital of Pittsburgh of UPMC
    Pittsburgh, Pennsylvania, 15224, USA
  • Vanderbilt University Medical Center
    Nashville, Tennessee, 37232, USA
  • University of Utah
    Salt Lake City, Utah, 84132, USA
  • National Hospital for Neurology and Neurosurgery
    London, WC1N 3BG, United Kingdom
  • Great Ormond Street Hospital
    London, WC1N 3JH, United Kingdom

Details

Status
accepting new patients by invitation only
Start Date
Sponsor
Ultragenyx Pharmaceutical Inc
Links
http://www.ultragenyx.com/
ID
NCT02214160
Phase
Phase 2
Lead Scientist
Renata Gallagher
Study Type
Interventional
Last Updated
September 2016