Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease

Glycogen Storage Disease Type IV Clinical Trial

Official title:

A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00947960
• Other study ID #: 009-103
• Status: Completed
• Phase: Phase 2
• First received: July 24, 2009
• Last updated: March 1, 2018
• Start date: June 2009
• Est. completion date: July 2015

Study information

• Verified date: March 2018
• Source: Baylor Research Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 23
• Est. completion date: July 2015
• Est. primary completion date: July 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Adult Polyglucosan Body Disease
• Glycogen Brancher Enzyme Deficiency
• Glycogen Storage Disease
• Glycogen Storage Disease Type IV
• Nervous System Diseases

Intervention

Drug:
• Triheptanoin
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.

Other:
• Vegetable Oil
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.

Locations

Country	Name	City	State
France	Department of Genetics, Groupe Hospitalier Pitié-Salpêtrière	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Baylor Research Institute	Ultragenyx Pharmaceutical Inc

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Distance traveled in six minute walk test		every three months