Official Title
An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) 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

Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS): 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 Glut1 DS.

Consideration for access is for patients with previous exposure to triheptanoin.

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 for the specific disease


Long Chain Fatty Acid Oxidation Disorders (LC-FAOD) and Non-FAOD conditions: Available

outside of the United States through individual named patient compassionate access requests.

Expanded access may provide access for treatment prior to approval by the local regulatory


For full details, please visit the link provided.

Individual Patients
Intermediate-size Population
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

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

Eligibility Criteria

Inclusion Criteria:

Criteria per Intermediate-Size Population Protocol for Glut1 DS - Confirmed diagnosis of Glut1 DS by documented SLC2A1 mutation or documented improvement on other forms of tripheptanoin administered based on a clinical presentation consistent with Glut1 DS diagnosis, including cerebrospinal fluid glucose levels. - Patients of any age who are seriously ill and, in the Treating Physician's opinion, experiencing clinical manifestations of Glut1 DS despite other management. - 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 Glut1 DS - Patient qualifies for any other clinical trial designed to progressively evaluate the safety and efficacy of tripheptanoin in Glut1 DS. - Any known hypersensitivity to triheptanoin that, in the judgement of the Treating Physician, places the patient at an increased risk for adverse events.

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
Long Chain Fatty Acid Oxidation Disorders
MeSH Terms
Carbohydrate Metabolism, Inborn Errors