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 in US only.

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: Expanded access
may be available outside of the US in countries prior to approval by the local regulatory

For full details, please visit the links provided below.

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

- 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
Eligibility Age
Minimum: N/A ~ Maximum: N/A

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