Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)
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ClinicalTrials.gov Identifier: NCT02030015 |
Recruitment Status
:
Recruiting
First Posted
: January 8, 2014
Last Update Posted
: October 26, 2017
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Condition or disease | Intervention/treatment | Phase |
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GM1 Gangliosidoses GM2 Gangliosidoses Tay-Sachs Disease Sandhoff Disease | Drug: miglustat Other: Ketogenic Diet | Phase 4 |
The infantile and juvenile forms of GM1 and GM2 gangliosidoses are neurodegenerative conditions that are lethal during childhood. There are no known effective therapies available for treatment of infantile and juvenile gangliosidoses. Studies of monotherapy with miglustat for treatment of these conditions have demonstrated safety, but have not demonstrated notable clinical improvement. To date, combination therapy for the infantile and juvenile gangliosidoses has not been explored. This study will evaluate a multi-targeted combination therapy for treatment of the gangliosidoses, using FDA approved therapies that have demonstrated safety in children. It is the aim of this study to learn if combination therapy using the "Syner-G" regimen (that is, synergistic enteral regimen for treatment of the gangliosidoses) will show improvement in overall survival and clinical benefits in neurodevelopmental abilities in children with gangliosidosis diseases.
This study is planned as a 5-year longitudinal treatment study. Subjects will be started on the treatment regimen when they are enrolled in the study. Data will be collected during yearly evaluations and at completion of study. Investigators may choose to stop therapy at any time, as clinically indicated for individual patients.
The Ketogenic Diet is a special diet that contains higher amounts of fat and lower amounts of carbohydrate compared to an average diet. The purpose of this is to help reduce food-miglustat interactions. The ketogenic diet may also help in management of seizures in these patients. (The ketogenic diet has been used as an anti-seizure treatment in a variety of medical conditions for many decades.) A study in Sandhoff disease mice has shown that the ketogenic diet may also help miglustat be more effective in the central nervous system (see Denny in "Citations" list below).
Miglustat will be used to reduce the amount of ganglioside accumulation in the child's cells. Miglustat is not FDA approved for treatment of the gangliosidoses. It is FDA approved for a different inherited metabolic disease called Gaucher disease type I.
This study has been issued Investigational New Drug (IND) # 127636 by the U.S. Food and Drug Administration (FDA).
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 6 participants |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) |
Study Start Date : | March 2014 |
Estimated Primary Completion Date : | March 2019 |
Estimated Study Completion Date : | March 2019 |

Arm | Intervention/treatment |
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Experimental: Syner-G Therapy Regimen
The Syner-G therapy regimen includes switching the research subject to a full-time ketogenic diet, and daily treatment with orally-administered miglustat, for the duration of the 60-month study.
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Drug: miglustat
The Syner-G therapy regimen includes treating with orally-administered miglustat for the duration of the 60-month study.
Other Name: Zavesca®
Other: Ketogenic Diet
The Syner-G therapy regimen includes switching the research subject to a full-time ketogenic diet for the 60-month duration of this study.
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- The duration of survival of each research subject, measured in months and years [ Time Frame: From date of enrollment until 60 months thereafter, or the date of subject's death from any cause, whichever comes first, assessed up to 60 months ]The survival duration of patients with infantile and juvenile forms of gangliosidoses will be assessed, in order to judge the clinical impact of the Syner-G therapy regimen. This will be accomplished by recording the subject's age on the date of enrollment in this study, and the subject's age at the conclusion of this study, or on the date of their death, whichever comes first. The duration of each subject's survival, expressed in months and years, will be compared to available natural history data in order to arrive at an expert assessment of the impact of the Syner-G therapy upon patient longevity.
- Rate of Change in Neurocognitive Functioning [ Time Frame: Upon Enrollment, and thereafter at 12, 24, 36, 48 and 60 months post-enrollment ]The Bayley Scales of Infant and Toddler Development and the Vineland Adaptive Behavior Scales will be administered upon enrollment and annually thereafter for five years. Changes in these neurodevelopmental assessments will be evaluated over the duration of follow-up. Ability of the child to have these assessments yearly may be subject to patient's insurance coverage for such assessments.

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Ages Eligible for Study: | up to 204 Months (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Subjects must have a documented infantile or juvenile gangliosidosis disease.
- Age: 17 years or less at time of enrollment
- Subjects and their caregivers must be willing to work with a ketogenic diet team for management of the subject's ketogenic diet.
Exclusion Criteria:
- A desire to not participate
- Patients who are older than 17 years will not be enrolled in this study.
- Children with severe renal impairment will not be enrolled in this study.
- Post-pubertal females who are pregnant, or who are unwilling to use highly-effective methods to prevent pregnancy, will be excluded from this study.
- Breast-feeding females will be excluded from this study.
- Subjects who have an allergy to miglustat or any of the components within the drug product will be excluded from this study.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02030015
Contact: Jeanine R. Jarnes, PharmD | 612-626-5131 | utzx0002@umn.edu | |
Contact: Evelyn S. Redtree, M.S. | 612-625-0974 | eredtree@umn.edu |
United States, Minnesota | |
University of Minnesota | Recruiting |
Minneapolis, Minnesota, United States, 55455 | |
Contact: Jeanine R. Jarnes, PharmD 612-626-5131 utzx0002@umn.edu | |
Contact: Evelyn S. Redtree, M.S. 612-625-0974 eredtree@umn.edu | |
Principal Investigator: Jeanine R. Jarnes, PharmD | |
Sub-Investigator: Chester B. Whitley, MD, PhD |
Principal Investigator: | Jeanine R. Jarnes, PharmD | University of Minnesota Fairview Hospital |
Additional Information:
Publications of Results:
Other Publications:
Responsible Party: | University of Minnesota - Clinical and Translational Science Institute |
ClinicalTrials.gov Identifier: | NCT02030015 History of Changes |
Other Study ID Numbers: |
Syner_G_Regimen U54NS065768 ( U.S. NIH Grant/Contract ) 1311M46101 ( Other Identifier: Univ. of Minnesota IRB Identifier Number ) |
First Posted: | January 8, 2014 Key Record Dates |
Last Update Posted: | October 26, 2017 |
Last Verified: | October 2017 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | De-identified individual data is input to the NIH-funded Rare Diseases Clinical Research Network's Data Management & Coordinating Center ("DMCC"). Eventually this data will become part of the database of Genotypes and Phenotypes ("dbGaP"), which is part of the National Center for Biotechnology Information, U.S. National Library of Medicine. |
Studies a U.S. FDA-regulated Drug Product: | Yes | |
Studies a U.S. FDA-regulated Device Product: | No |
Keywords provided by University of Minnesota - Clinical and Translational Science Institute:
infantile Tay-Sachs disease juvenile Tay-Sachs disease infantile GM2 gangliosidosis juvenile GM2 gangliosidosis Sandhoff disease Tay-Sachs disease Tay Sachs disease infantile GM1 gangliosidosis |
juvenile GM1 gangliosidosis gangliosidoses miglustat ketogenic diet SYNER-G regimen Syner-G Zavesca |
Additional relevant MeSH terms:
Tay-Sachs Disease Sandhoff Disease Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Gangliosidoses Gangliosidoses, GM2 Gangliosidosis, GM1 |
Sphingolipidoses Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Miglustat 1-Deoxynojirimycin Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action Anti-HIV Agents Anti-Retroviral Agents Antiviral Agents Anti-Infective Agents Glycoside Hydrolase Inhibitors Hypoglycemic Agents Physiological Effects of Drugs |