Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00672022
• Date of registration: 02/05/2008
• Prospective Registration: No
• Primary sponsor: Children's Research Institute
• Public title: Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses
• Scientific title: Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses
• Date of first enrolment: July 2004
• Target sample size: 10
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00672022
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 3

Countries of recruitment

United States

Contacts

• Name: Cynthia J TIfft, MD, PhD
• Affiliation: Children's Research Institute

Key inclusion & exclusion criteria

Inclusion criteria

1. Diagnosis of GM2 gangliosidosis, confirmed by demonstration of profound deficiency of
-hexosaminidase A or A & B in peripheral blood leukocytes or in cultured skin
fibroblasts, within the previous 1 year in non-bone marrow transplant recipients who
are < 2 years of age, or prior to stem cell transplant in stably engrafted transplant
patients who are < 5 years of age.

2. Onset of characteristic clinical symptoms of the disease before the age of 9 months.

3. Normal renal and hepatic function.

4. Written informed consent from parent or legal guardian.

Exclusion criteria

1. Patients who are unable to comply with the study procedures of this protocol,
including the refusal to swallow the food used to mask the taste of the study drug
and whose parents are unwilling to administer the drug through a nasogastric or
gastrostomy tube.

2. Patients receiving other investigational agents within 3 months of study initiation.

3. Patients who are anemic (hemoglobin < 11 g/dl, and/or hematocrit < 34%)

4. Patients who have a history of significant gastrointestinal disorders, including
clinically significant diarrhea (>3 liquid stools per day for > 7 days), without
definable cause within 3 months of baseline visit.

5. Patients with a high probability of dying during the 6-month assessment period of the
study.

6. Patients who in the opinion of the investigator (for whatever reason) are thought to
be unsuitable for the study.



Age minimum: 6 Months
Age maximum: 5 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Sandhoff Disease

Tay-Sachs

GM2 Gangliosidoses

Intervention(s)

Drug: Zavesca (Miglustat)

Primary Outcome(s)

Biomarkers (level of GM2 ganglioside, chitotriosidase activity, anti-GM2 antibodies) in plasma, serum and CSF will be measured at initial visit (run-in period), Week 13, and Week 25.

Secondary Outcome(s)

Neurophysiologic Assessment - EEG and BEAR tests will be done at initial visit (run-in period), Week 13, and Week 25.

Ophthalmology Assessment - comparision of the "cherry-red" macula changes will be made at initial visit (run-in period) and Week 25.

Secondary ID(s)

3445

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Actelion