Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
About this trial
This is an interventional treatment trial for Adult Polyglucosan Body Disease focused on measuring Adult Polyglucosan Body Disease (APBD), Glycogen Brancher Enzyme (GBE1) Deficiency
Eligibility Criteria
Inclusion Criteria:
- Confirmed diagnosis of APBD by the presence of mutations of the GBE1 gene in both alleles or brancher enzyme deficiency
- Willing and able to travel to Dallas TX
- Able to tolerate dietary oil
- Able to provide informed consent
Exclusion Criteria:
- Intercurrent medical conditions that would confound the assessment of efficacy, such as HIV or diabetes
- Patients who are wheelchair bound
- Patients deemed unsuitable for the study by the investigator
Sites / Locations
- Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Arms of the Study
Arm 1
Arm 2
Other
Other
Active/Placebo
Placebo/Active
Subjects receive 1-2 grams/kilogram body weight triheptanoin divided into 4 equal doses taken with meals and snack for 6 months crossing over to receive placebo vegetable oil at the same dose and frequency for the next 6 months during the randomization phase.
Subjects receive 1-2 grams/kilogram body weight placebo vegetable oil divided into 4 equal doses taken with meals and snack for 6 months crossing over to receive triheptanoin at the same dose and frequency for the next 6 months during the randomization phase.