Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

This study is currently recruiting participants.
Verified October 2013 by Baylor Research Institute
Sponsor:
Collaborator:
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Baylor Research Institute
ClinicalTrials.gov Identifier:
NCT00947960
First received: July 24, 2009
Last updated: October 7, 2013
Last verified: October 2013
  Purpose

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


Condition Intervention Phase
Adult Polyglucoson 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
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Crossover Assignment
Masking: Double Blind (Subject, 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 ] [ Designated as safety issue: No ]

Estimated Enrollment: 18
Study Start Date: June 2009
Estimated Study Completion Date: December 2014
Estimated Primary Completion Date: December 2014 (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

Ages Eligible for Study:   18 Years to 75 Years
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00947960

Contacts
Contact: Mary Wallace, MSRD/LD, CCRC 214-820-4752 MaryWall@Baylorhealth.edu
Contact: Caren Swift, RN, BSN 214-820-4857 Caren.Swift@BaylorHealth.edu

Locations
France
Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière Recruiting
Paris, France, 75013
Contact: Fanny Mochel, MD, PhD    + 33 1 57 27 46 82    fanny.mochel@upmc.fr   
Contact: Daisy Rinaldi, PhD    + 33 1 57 27 46 78    daisyrinaldi@free.fr   
Principal Investigator: Fanny Mochel, M.D., PhD         
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

No publications provided

Responsible Party: Baylor Research Institute
ClinicalTrials.gov Identifier: NCT00947960     History of Changes
Other Study ID Numbers: 009-103
Study First Received: July 24, 2009
Last Updated: October 7, 2013
Health Authority: United States: Food and Drug Administration

Keywords provided by Baylor Research Institute:
Adult Polyglucoson Body Disease (APBD)
Glycogen Brancher Enzyme (GBE1) Deficiency

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on April 17, 2014