Synergistic Enteral Regimen for Treatment of the Gangliosidoses

• Status: Terminated
• Trial end date: 2019-07-31
• Target enrollment: 0
• Participant gender: All

Summary

The investigators hypothesize that a combination therapy using miglustat and the ketogenic diet for infantile and juvenile patients with gangliosidoses will create a synergy that 1) improves overall survival for patients with infantile or juvenile gangliosidoses, and 2) improves neurodevelopmental clinical outcomes of therapy, compared to data reported in previous natural history studies. The ketogenic diet is indicated for management of seizures in patients with seizure disorders. In this study, the ketogenic diet will be used to minimize or prevent gastrointestinal side-effects of miglustat. A Sandhoff disease mouse study has shown that the ketogenic diet may also improve central nervous system response to miglustat therapy (see Denny in "Citations" list below). Patients with infantile and juvenile gangliosidoses commonly suffer from seizure disorders, and use of the ketogenic diet in these patients may therefore also improve seizure management.

• Phase: Phase 4
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Minnesota; University of Minnesota - Clinical and Translational Science Institute
• Collaborators: Lysosomal Disease Network; National Center for Advancing Translational Science (NCATS); National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases Clinical Research Network
• Treatments: 1-Deoxynojirimycin; Miglustat

Criteria

Inclusion Criteria:

1. Subjects must have a documented infantile or juvenile gangliosidosis disease.

2. Age: 17 years or less at time of enrollment

3. Subjects and their caregivers must be willing to work with a ketogenic diet team for management of the subject's ketogenic diet.

Exclusion Criteria:

1. A desire to not participate

2. Patients who are older than 17 years will not be enrolled in this study.

3. Children with severe renal impairment will not be enrolled in this study.

4. Post-pubertal females who are pregnant, or who are unwilling to use highly-effective methods to prevent pregnancy, will be excluded from this study.

5. Breast-feeding females will be excluded from this study.

6. Subjects who have an allergy to miglustat or any of the components within the drug product will be excluded from this study.