Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study

Sponsors

Lead Sponsor: Baylor Research Institute

Collaborator: Ultragenyx Pharmaceutical Inc

Source Baylor Research Institute
Brief Summary

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

Detailed 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.

Overall Status Completed
Start Date 2009-06-01
Completion Date 2015-07-01
Primary Completion Date 2015-07-01
Phase Phase 2
Study Type Interventional
Primary Outcome
Measure Time Frame
Distance traveled in six minute walk test every three months
Enrollment 23
Condition
Intervention

Intervention Type: Drug

Intervention Name: Triheptanoin

Description: 1-2 grams triheptanoin (drug)/kilogram body weight divided into 4 equal doses per day taken with meals and a snack for 6 months followed by 1-2 grams vegetable oil (placebo)/kilogram body weight divided into 4 equal doses per day taken with meals and a snack for 6 months.

Intervention Type: Other

Intervention Name: Vegetable Oil

Description: 1-2 grams vegetable oil (placebo)/kilogram body weight divided into 4 equal doses per day taken with meals and a snack for 6 months followed by 1-2 g triheptanoin (drug)/kilogram body weight for 6 months.

Other Name: Placebo

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

Gender:

All

Minimum Age:

18 Years

Maximum Age:

75 Years

Healthy Volunteers:

No

Overall Official
Last Name Role Affiliation
Raphael Schiffmann, M.D, M.H.Sc Principal Investigator Institute of Metabolic Disease
Location
Facility: Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Location Countries

France

Verification Date

2018-03-01

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Active/Placebo

Type: Other

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.

Label: Placebo/Active

Type: Other

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.

Study Design Info

Allocation: Randomized

Intervention Model: Crossover Assignment

Primary Purpose: Treatment

Masking: Double (Participant, Investigator)

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