Glucose Transporter 1 Deficiency Syndrome
Conditions
Brief summary
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.
Detailed 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.
Interventions
DRUGTriheptanoin
A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007).
Sponsors
Ultragenyx Pharmaceutical Inc
Jerry Vockley, MD, PhD
Eligibility
Sex/Gender
FEMALE
Age
3 Years to No maximum
Healthy volunteers
No
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.
Countries
United States
Outcome results
None listed