Clinical trial NCT00947960: 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
Overall status: COMPLETED
Phase: PHASE2
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
Lead sponsor: Baylor Research Institute
Sponsor class: OTHER
Collaborators: name: Ultragenyx Pharmaceutical Inc
First posted: 2009-07-28
Enrollment: 23
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: CROSSOVER
Primary purpose: TREATMENT

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.

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

Primary outcomes:
measure: Distance traveled in six minute walk test
timeFrame: every three months
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière
Study officials:
affiliation: Institute of Metabolic Disease
name: Raphael Schiffmann, M.D, M.H.Sc
role: PRINCIPAL_INVESTIGATOR
References:
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.