NCT00947960

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
23

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Jun 2009

Longer than P75 for phase_2

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2009

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

July 24, 2009

Completed
4 days until next milestone

First Posted

Study publicly available on registry

July 28, 2009

Completed
5.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2015

Completed
Last Updated

March 5, 2018

Status Verified

March 1, 2018

Enrollment Period

6.1 years

First QC Date

July 24, 2009

Last Update Submit

March 1, 2018

Conditions

Adult Polyglucosan Body DiseaseGlycogen Brancher Enzyme DeficiencyGlycogen Storage Disease Type IV

Keywords

Adult Polyglucosan Body Disease (APBD)Glycogen Brancher Enzyme (GBE1) Deficiency

Outcome Measures

Primary Outcomes (1)

  • Distance traveled in six minute walk test

    every three months

Study Arms (2)

Active/Placebo

OTHER

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: TriheptanoinOther: Vegetable Oil

Placebo/Active

OTHER

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: TriheptanoinOther: Vegetable Oil

Interventions

TriheptanoinDRUG

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.

Active/PlaceboPlacebo/Active
Vegetable OilOTHER

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.

Also known as: Placebo
Active/PlaceboPlacebo/Active

Eligibility Criteria

Age18 Years - 75 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière

Paris, 75013, France

Location

Related Publications (1)

  • 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.

    PMID: 29110179DERIVED

MeSH Terms

Conditions

Polyglucosan Body Disease, Adult FormGlycogen Storage Disease Type IV

Interventions

triheptanoinPlant Oils

Condition Hierarchy (Ancestors)

Glycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

OilsLipidsPlant PreparationsBiological ProductsComplex Mixtures

Study Officials

  • Raphael Schiffmann, M.D, M.H.Sc

    Institute of Metabolic Disease

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
RANDOMIZED
Masking
DOUBLE
Who Masked
PARTICIPANT, INVESTIGATOR
Purpose
TREATMENT
Intervention Model
CROSSOVER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 24, 2009

First Posted

July 28, 2009

Study Start

June 1, 2009

Primary Completion

July 1, 2015

Study Completion

July 1, 2015

Last Updated

March 5, 2018

Record last verified: 2018-03

Locations

FR(1)