Expanded Access to Triheptanoin

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

Detailed Description
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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 indication. 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 agencies. For full details, please visit the links provided below.

Official Title
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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)

Conditions
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Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

Intervention / Treatment
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* Drug: Triheptanoin


Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Drug: Triheptanoin|Liquid for oral (PO) or enteral tube administration|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Expanded Access, Compassionate Use, Carnitine Palmitoyltransferase Deficiency, CPT I, CPT II, Very Long Chain acyl-CoA Dehydrogenase Deficiency, VLCAD, Long Chain 3-hydroxy-acyl-CoA Dehydrogenase Deficiency, LHCAD, Trifunctional Protein Deficiency, TFP, Carnitine-acylcarnitine Translocase Deficiency, CACT, Long Chain Fatty Acid Oxidation Disorders, LC-FAOD