Expanded Access to Triheptanoin

This is an expanded access trial for Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) focused on measuring 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 Read More

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.