COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

Expanded Access to Triheptanoin

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03773770
Expanded Access Status : Available
First Posted : December 12, 2018
Last Update Posted : February 13, 2020
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Brief Summary:
Expanded access may be provided for qualified patients who have limited treatment options and are not eligible for a clinical trial.

Condition or disease Intervention/treatment
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Drug: Triheptanoin

Detailed Description:

LC-FAOD Conditions: Available through Intermediate-Size Population Expanded Access.

The intermediate-size expanded access treatment protocol is intended to provide rapid access to triheptanoin for the treatment of seriously ill patients with long-chain fatty acid oxidation disorders (LC-FAOD).

Patients will be treated under this protocol for the duration of one year, with consideration on a yearly basis for extension of treatment based on the risk-benefit ratio assessed in the Treating Physician's quarterly progress reports. Patients may continue to receive triheptanoin under this intermediate-size treatment protocol until commercial availability of triheptanoin, should the drug receive regulatory approval.

Non-FAOD Conditions: Available through Single Patient Expanded Access. Expanded access may provide access for treatment prior to approval by the local regulatory agency.

For full details, please visit the link provided.

Layout table for study information
Study Type : Expanded Access
Expanded Access Type : Individual Patients, Intermediate-size Population
  See clinical trials of the intervention/treatment in this expanded access record.
Official Title: UX007-EAP101: An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) With Triheptanoin (UX007)

Intervention Details:
  • Drug: Triheptanoin
    Liquid for oral (PO) or enteral tube administration
    Other Name: UX007

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All

Inclusion Criteria:

Criteria per Intermediate-Size Population Protocol for LC-FAOD

  • 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.
  • Patients of any age who are seriously ill experiencing clinical decompensation due to LC-FAOD despite other management, who may require intensive care (ICU, PICU, NICU).
  • Fetuses with known pathogenic mutations on prenatal testing that are associated with high infant mortality may also be considered in advance of treatment that initiates after birth.
  • Willing and able to comply with all aspects of the treatment, including visits and tests specified by the Treating Physician, documentation of symptoms and diet, and administration of triheptanoin. If a minor, have a caregiver(s) willing and able to assist in all applicable treatment requirements.
  • Provide written informed consent (patients 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 treatment program has been explained and prior to any treatment-related procedures.

Exclusion Criteria:

Criteria per Intermediate-Size Population Protocol for LC-FAOD

  • Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, short- or medium-chain FAOD, ketone body metabolism defect, propionic acidemia or methylmalonic acidemia.
  • Patient qualifies for any other clinical trial designed to progressively evaluate the safety and efficacy of triheptanoin in LC-FAOD.
  • Any known hypersensitivity to triheptanoin that, in the judgment of the Treating Physician, places the patient at increased risk for adverse effects.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03773770

Layout table for location contacts
Contact: Early Access 1-415-483-8800

Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Layout table for investigator information
Study Director: Medical Director Ultragenyx Pharmaceutical Inc

Additional Information:
Layout table for additonal information
Responsible Party: Ultragenyx Pharmaceutical Inc Identifier: NCT03773770    
Other Study ID Numbers: UX007-EAP
UX007-EAP101 ( Other Identifier: Ultragenyx Pharmaceutical Inc )
First Posted: December 12, 2018    Key Record Dates
Last Update Posted: February 13, 2020
Last Verified: February 2020
Keywords provided by Ultragenyx Pharmaceutical Inc:
Expanded Access
Compassionate Use
Carnitine Palmitoyltransferase Deficiency
Very Long Chain acyl-CoA Dehydrogenase Deficiency
Long Chain 3-hydroxy-acyl-CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency
Carnitine-acylcarnitine Translocase Deficiency