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Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Primary Purpose

Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV

Status
Completed
Phase
Phase 2
Locations
France
Study Type
Interventional
Intervention
Triheptanoin
Vegetable Oil
Sponsored by
Baylor Research Institute
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Adult Polyglucosan Body Disease focused on measuring Adult Polyglucosan Body Disease (APBD), Glycogen Brancher Enzyme (GBE1) Deficiency

Eligibility Criteria

18 Years - 75 Years (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Active/Placebo

Placebo/Active

Arm Description

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.

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.

Outcomes

Primary Outcome Measures

Distance traveled in six minute walk test

Secondary Outcome Measures

Full Information

First Posted
July 24, 2009
Last Updated
March 1, 2018
Sponsor
Baylor Research Institute
Collaborators
Ultragenyx Pharmaceutical Inc
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1. Study Identification

Unique Protocol Identification Number
NCT00947960
Brief Title
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
Official Title
A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study
Study Type
Interventional

2. Study Status

Record Verification Date
March 2018
Overall Recruitment Status
Completed
Study Start Date
June 2009 (undefined)
Primary Completion Date
July 2015 (Actual)
Study Completion Date
July 2015 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Baylor Research Institute
Collaborators
Ultragenyx Pharmaceutical Inc

4. Oversight

Data Monitoring Committee
No

5. 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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
Keywords
Adult Polyglucosan Body Disease (APBD), Glycogen Brancher Enzyme (GBE1) Deficiency

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Crossover Assignment
Masking
ParticipantInvestigator
Allocation
Randomized
Enrollment
23 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Active/Placebo
Arm Type
Other
Arm Description
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.
Arm Title
Placebo/Active
Arm Type
Other
Arm Description
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.
Intervention Type
Drug
Intervention Name(s)
Triheptanoin
Intervention Description
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.
Intervention Type
Other
Intervention Name(s)
Vegetable Oil
Other Intervention Name(s)
Placebo
Intervention Description
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.
Primary Outcome Measure Information:
Title
Distance traveled in six minute walk test
Time Frame
every three months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
75 Years
Accepts Healthy Volunteers
No
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Raphael Schiffmann, M.D, M.H.Sc
Organizational Affiliation
Institute of Metabolic Disease
Official's Role
Principal Investigator
Facility Information:
Facility Name
Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
City
Paris
ZIP/Postal Code
75013
Country
France

12. IPD Sharing Statement

Citations:
PubMed Identifier
29110179
Citation
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. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6.
Results Reference
derived

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Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

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