Adult Polyglucosan Body DiseasePhase 2NCT00947960
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
A Phase 2 study testing Triheptanoin and Vegetable Oil in people with Adult Polyglucosan Body Disease and Glycogen Brancher Enzyme Deficiency, run by Baylor Research Institute at 1 site in France.
Trial summary
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease. Read more about this study
- Who is it for?
- Ages 18 to 75 years
- Conditions the study is for
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- What is being tested?
- Triheptanoin and Vegetable Oil
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 23 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2009to Jul 2015
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
France1 site
Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Paris, 75013
About this study
Official title: A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study
The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.
Read the 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.
- Conditions
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- Being tested
- Triheptanoin, Vegetable Oil
- Keywords
- Adult Polyglucosan Body Disease (APBD), Glycogen Brancher Enzyme (GBE1) Deficiency
- Medical subject headings
- Polyglucosan Body Disease, Adult Form, Glycogen Storage Disease Type IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
Vegetable OilOther
Also called Placebo
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Triheptanoin; Other: 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. Receives: Drug: Triheptanoin; Other: Vegetable Oil |
What is being measured
The primary outcome is the main question the study is designed to answer.
Distance traveled in six minute walk test
Measured: every three months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2009 (estimated)
- Study startJun 2009
- Primary completionJul 2015
- Study completionJul 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Adult Polyglucosan Body DiseaseStudies of the same condition, open and under way.
- More trials run by Baylor Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 23 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor Research Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor
- Investigators
- Raphael Schiffmann, M.D, M.H.Sc, Principal investigator, Institute of Metabolic Disease
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00947960
- Sponsor's protocol ID
- 009-103
- Status last verified
- Mar 2018
- First submitted
- 24 Jul 2009
- Last updated
- 5 Mar 2018
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 29110179
Study at a glance
From the registry record, last updated by the sponsor on 5 Mar 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study
- ClinicalTrials.gov ID
- NCT00947960
- Acronym / sponsor ID
- 009-103
- Conditions
- Adult Polyglucosan Body Disease, Glycogen Brancher Enzyme Deficiency, Glycogen Storage Disease Type IV
- Keywords
- Adult Polyglucosan Body Disease (APBD), Glycogen Brancher Enzyme (GBE1) Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 23 participants (actual)
- Lead sponsor
- Baylor Research InstituteUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- Jun 2009
- Primary completion
- Jul 2015 (actual)
- Study completion
- Jul 2015 (actual)
- First posted
- 28 Jul 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind (participant, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Active/Placebo | Other | Drug: Triheptanoin, Other: Vegetable OilSubjects 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. |
| Placebo/Active | Other | Drug: Triheptanoin, Other: Vegetable OilSubjects 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. |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Triheptanoin1-2 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. | Drug | Active/Placebo, Placebo/Active |
| Vegetable OilAlso: Placebo1-2 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 | Active/Placebo, Placebo/Active |
Primary outcome
Distance traveled in six minute walk test
Time frame: every three months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Mar 2018.
- Derived from this study: PubMed 29110179Schiffmann 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.
Related trials for Adult Polyglucosan Body Disease
RecruitingObservational study
GBE Deficiency (GSD IV and APBD) Natural History Study
Glycogen Storage Disease Type IV, Adult Polyglucosan Body Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Raphael Schiffmann, M.D, M.H.Sc principal investigator
Institute of Metabolic Disease
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Triheptanoin and Vegetable Oil in people with Adult Polyglucosan Body Disease and Glycogen Brancher Enzyme Deficiency, run by Baylor Research Institute at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Mar 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Distance traveled in six minute walk test (time frame: every three months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00947960, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Mar 2018.