Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome

Jerry Vockley, MD, PhD

Status

Conditions: Glucose Transporter 1 Deficiency Syndrome

Treatments: Drug: Triheptanoin

Study type: Expanded Access

Funder types: Other; Industry

Identifiers

NCT02968953

PRO16060524

Details and patient eligibility

About

This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.

Full description

This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome. Patient has already tried the other acceptable treatments for GLUT1 with either side effects that caused treatment to be discontinued (Ketogenic Diet) or a current treatment that is not showing any efficacy and is difficult to sustain for a long duration given this patient's age (modified Atkins diet). Due to the patient's ongoing neuroregression and lack of other viable treatments, the use of UX007 (triheptanoin) is warranted. There is no comparable or satisfactory alternative therapy to treat this patient's severely debilitating condition and the potential benefits to the patient justify the potential risks of the treatment. The potential risks from UX007 (triheptanoin) are not unreasonable given the context of this patient's condition.

Sex: Female

Ages: 3+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.

Exclusion criteria

• Not applicable as study only includes one patient.