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Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00947960
First Posted: July 28, 2009
Last Update Posted: January 13, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Baylor Research Institute
  Purpose
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.
  Eligibility

Information from the National Library of Medicine

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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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00947960


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

Responsible Party: Baylor Research Institute
ClinicalTrials.gov Identifier: NCT00947960     History of Changes
Other Study ID Numbers: 009-103
First Submitted: July 24, 2009
First Posted: July 28, 2009
Last Update Posted: January 13, 2016
Last Verified: January 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