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Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

This study has been completed.
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Baylor Research Institute Identifier:
First received: July 24, 2009
Last updated: January 12, 2016
Last verified: January 2016
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.

Condition Intervention Phase
Adult Polyglucosan Body Disease Glycogen Brancher Enzyme Deficiency Glycogen Storage Disease Type IV Drug: Triheptanoin Dietary Supplement: Vegetable Oil Phase 2

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Baylor Research Institute:

Primary Outcome Measures:
  • Distance traveled in six minute walk test [ Time Frame: every three months ]

Enrollment: 22
Study Start Date: June 2009
Study Completion Date: July 2015
Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: T1 Drug: Triheptanoin
1-2g/kg of body weight per day divided into 4 doses per day.
Placebo Comparator: T2 Dietary Supplement: Vegetable Oil
1-2g/kg of body weight per day divided into 4 doses.

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.

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

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00947960

Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Paris, France, 75013
Sponsors and Collaborators
Baylor Research Institute
Ultragenyx Pharmaceutical Inc
Principal Investigator: Raphael Schiffmann, M.D, M.H.Sc Institute of Metabolic Disease
  More Information

Responsible Party: Baylor Research Institute Identifier: NCT00947960     History of Changes
Other Study ID Numbers: 009-103
Study First Received: July 24, 2009
Last Updated: January 12, 2016

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 processed this record on August 18, 2017