Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Study Description

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Brief Summary:

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

Condition or disease	Intervention/treatment	Phase
Adult Polyglucosan Body Disease; Glycogen Brancher Enzyme Deficiency; Glycogen Storage Disease Type IV	Drug: Triheptanoin; Other: Vegetable Oil	Phase 2

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.

Study Design

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Study Type :	Interventional (Clinical Trial)
Actual Enrollment :	23 participants
Allocation:	Randomized
Intervention Model:	Crossover Assignment
Masking:	Double (Participant, Investigator)
Primary Purpose:	Treatment
Official Title:	A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study
Study Start Date :	June 2009
Actual Primary Completion Date :	July 2015
Actual Study Completion Date :	July 2015

Arms and Interventions

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Arm	Intervention/treatment
Active/Placebo; 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.	Drug: Triheptanoin; 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. Other: Vegetable Oil; 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
Placebo/Active; 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.	Drug: Triheptanoin; 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. Other: Vegetable Oil; 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

Outcome Measures

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Primary Outcome Measures :

1. Distance traveled in six minute walk test [ Time Frame: every three months ]

Eligibility Criteria

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Ages Eligible for Study:	18 Years to 75 Years (Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

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

Contacts and Locations

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Locations

France
Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Paris, France, 75013

Sponsors and Collaborators

Baylor Research Institute

Ultragenyx Pharmaceutical Inc

Investigators

Principal Investigator:	Raphael Schiffmann, M.D, M.H.Sc	Institute of Metabolic Disease

More Information

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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F. A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome. J Inherit Metab Dis. 2017 Nov 6. doi: 10.1007/s10545-017-0103-x. [Epub ahead of print]

Responsible Party:	Baylor Research Institute
ClinicalTrials.gov Identifier:	NCT00947960 History of Changes
Other Study ID Numbers:	009-103
First Posted:	July 28, 2009
Last Update Posted:	March 5, 2018
Last Verified:	March 2018

Keywords provided by Baylor Research Institute:

Adult Polyglucosan Body Disease (APBD); Glycogen Brancher Enzyme (GBE1) Deficiency

Additional relevant MeSH terms:

Glycogen Storage Disease; Glycogen Storage Disease Type IV; Nervous System Diseases; Carbohydrate Metabolism, Inborn Errors	Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases