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