Ignite Creation Date:
2025-12-25 @ 2:02 AM
Ignite Modification Date:
2025-12-26 @ 1:09 AM
Study NCT ID:
NCT00947960
Status:
COMPLETED
Last Update Posted:
2018-03-05
First Post:
2009-07-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['United States']}, 'conditionBrowseModule': {'meshes': [{'id': 'C564878', 'term': 'Polyglucosan Body Disease, Adult Form'}, {'id': 'D006011', 'term': 'Glycogen Storage Disease Type IV'}], 'ancestors': [{'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C531010', 'term': 'triheptanoin'}, {'id': 'D010938', 'term': 'Plant Oils'}], 'ancestors': [{'id': 'D009821', 'term': 'Oils'}, {'id': 'D008055', 'term': 'Lipids'}, {'id': 'D028321', 'term': 'Plant Preparations'}, {'id': 'D001688', 'term': 'Biological Products'}, {'id': 'D045424', 'term': 'Complex Mixtures'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'DOUBLE', 'whoMasked': ['PARTICIPANT', 'INVESTIGATOR']}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'CROSSOVER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 23}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2009-06'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-03', 'completionDateStruct': {'date': '2015-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-03-01', 'studyFirstSubmitDate': '2009-07-24', 'studyFirstSubmitQcDate': '2009-07-27', 'lastUpdatePostDateStruct': {'date': '2018-03-05', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2009-07-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-07', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Distance traveled in six minute walk test', 'timeFrame': 'every three months'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Adult Polyglucosan Body Disease (APBD)', 'Glycogen Brancher Enzyme (GBE1) Deficiency'], 'conditions': ['Adult Polyglucosan Body Disease', 'Glycogen Brancher Enzyme Deficiency', 'Glycogen Storage Disease Type IV']}, 'referencesModule': {'references': [{'pmid': '29110179', 'type': 'DERIVED', '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.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of the study is to determine if triheptanoin is an effective treatment for the symptoms of Adult Polyglucosan Body Disease.', 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '75 Years', 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Confirmed diagnosis of APBD by the presence of mutations of the GBE1 gene in both alleles or brancher enzyme deficiency\n* Willing and able to travel to Dallas TX\n* Able to tolerate dietary oil\n* Able to provide informed consent\n\nExclusion Criteria:\n\n* Intercurrent medical conditions that would confound the assessment of efficacy, such as HIV or diabetes\n* Patients who are wheelchair bound\n* Patients deemed unsuitable for the study by the investigator'}, 'identificationModule': {'nctId': 'NCT00947960', 'briefTitle': 'Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease', 'organization': {'class': 'OTHER', 'fullName': 'Baylor Research Institute'}, 'officialTitle': 'A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study', 'orgStudyIdInfo': {'id': '009-103'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Active/Placebo', '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.', 'interventionNames': ['Drug: Triheptanoin', 'Other: Vegetable Oil']}, {'type': 'OTHER', 'label': 'Placebo/Active', '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.', 'interventionNames': ['Drug: Triheptanoin', 'Other: Vegetable Oil']}], 'interventions': [{'name': 'Triheptanoin', 'type': 'DRUG', '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.', 'armGroupLabels': ['Active/Placebo', 'Placebo/Active']}, {'name': 'Vegetable Oil', 'type': 'OTHER', 'otherNames': ['Placebo'], '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.', 'armGroupLabels': ['Active/Placebo', 'Placebo/Active']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75013', 'city': 'Paris', 'country': 'France', 'facility': 'Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Raphael Schiffmann, M.D, M.H.Sc', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Institute of Metabolic Disease'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Baylor Research Institute', 'class': 'OTHER'}, 'collaborators': [{'name': 'Ultragenyx Pharmaceutical Inc', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'SPONSOR'}}}}