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)
Brief Summary

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

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.

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Individual Patients
Intermediate-size Population
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

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

Eligibility Criteria

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.

Eligibility Gender

Early Access

Medical Director
Study Director
Ultragenyx Pharmaceutical Inc

Ultragenyx Pharmaceutical Inc
NCT Number
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