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Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Sponsor
Baylor Research Institute (Other)
Overall Status
Completed
CT.gov ID
NCT00947960
Collaborator
Ultragenyx Pharmaceutical Inc (Industry)
23
Enrollment
1
Location
2
Arms
73
Duration (Months)
0.3
Patients Per Site Per Month

Study Details

Study Description

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
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

Study Type:
Interventional
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 :
Jun 1, 2009
Actual Primary Completion Date :
Jul 1, 2015
Actual Study Completion Date :
Jul 1, 2015

Arms and Interventions

Arm Intervention/Treatment
Other: 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 Names:
  • Placebo

    		•
    Other: 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 Names:
  • Placebo

    		•

    Outcome Measures

    Primary Outcome Measures

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

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 75 Years
    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

    Locations

    Site City State Country Postal Code
    1 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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Baylor Research Institute
    ClinicalTrials.gov Identifier:
    NCT00947960
    Other Study ID Numbers:
    • 009-103
    First Posted:
    Jul 28, 2009
    Last Update Posted:
    Mar 5, 2018
    Last Verified:
    Mar 1, 2018
    Keywords provided by Baylor Research Institute
    Adult Polyglucosan Body Disease (APBD)
    Glycogen Brancher Enzyme (GBE1) Deficiency
    Additional relevant MeSH terms:
    Nervous System Diseases
    Glycogen Storage Disease
    Glycogen Storage Disease Type IV

    Study Results

    No Results Posted as of Mar 5, 2018