Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Baylor Scott and White Health (BSWH)

Status and phase: Completed; Phase 2

Conditions: Adult Polyglucosan Body Disease; Glycogen Storage Disease Type IV; Glycogen Brancher Enzyme Deficiency

Treatments: Drug: Triheptanoin; Other: Vegetable Oil

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT00947960

009-103

Details and patient eligibility

About

The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.

Full description

Adult polyglucosan disease is a progressive neurogenetic disorder characterized by neurogenic bladder, progressive difficulty with walking, and sensory abnormalities in the lower extremities which typically present in the 4th or 5th decade of life. The pathogenesis of the disease includes the accumulation of intracellular polyglucosan bodies (amylopectin-like polysaccharides) in the peripheral nerves as well as the central nervous system cells and is often associated with brancher enzyme deficiency which causes improper glycogen formation. It is hypothesized that decreased glycogen degradation leads to energy deficit in the nervous system cells. Therefore, anaplerotic therapy may supply needed substrate to the citric acid cycle to correct the energy deficit. This intervention may slow, halt or reverse the progression of the disease, for which there is no effective treatment. The trial involves 18 subjects ingesting a diet supplemented with triheptanoin, a 7 carbon triglyceride or a placebo of vegetable oil at a dose of 1-2 g/kg/24 hours in a randomized crossover controlled double blind study. The study lasts one year with patients receiving triheptanoin for 6 mo and the placebo oil for 6 mo. Safety monitoring includes urine organic acids and acyl carnitine profile.

Enrollment: 23 patients

Sex: All

Ages: 18 to 75 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Double Blind

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23 participants in 2 patient groups

Active/Placebo

Other group

Description:

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.

Treatment:

Other: Vegetable Oil

Drug: Triheptanoin

Placebo/Active

Other group

Description:

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.

Treatment:

Other: Vegetable Oil

Drug: Triheptanoin