HUM-MOLGEN DIAGnostics/Clinical Research

2 March 1998

STUDY: Effect of myo-Inositol on Cerebellar and Immune Function in Patients with Ataxia-Telangiectasia

STUDY LOCATION: The Children's Hospital of Philadelphia (CHOP) 34th Street & Civic Center Boulevard, Philadelphia, Pennsylvania USA 19104-4399

PRINCIPLE INVESTIGATOR: Gerard Berry, M.D. (Metabolism/Biochemical Genetics)

CO-INVESTIGATORS: Peter Bingham, M.D. (Neurology) Kathleen Sullivan, M.D., Ph.D. (Immunology)

FOCUS OF STUDY: Investigation of pharmacological doses of a nutrient, identified as deficient in patients with A-T, with critical roles in cell signalling and cellular metabolism. Pre and post-assessment of immune, neurological and activities of daily living functioning.

STUDY DESIGN: Double blind placebo-controlled randomized-crossover study.

FUNDING SOURCE: NIH Clinical Research Center Funds

WHAT IS REQUIRED: Four(4) trips to Philadelphia: 1) 5 days at CHOP for "pre" measurements & establishment of therapeutic dose of the intervention per your child's weight and metabolism.

1) Return home with liquid intervention.

3) Take either placebo or nutrient for 1 month (both pleasant tasting).

4) 2 days at CHOP 1 month later for "post" measurements.

5) At least 1 week in-between, then repeat steps 1-4.

COST: No cost for study and assessments. Minimal out-of-pocket for meals, recreation. Lodging at Ronald McDonald House. Assistance with airfares provided by The A-T Project (Austin) with support from The A-T Medical Research Foundation (Los Angeles).

BENEFITS OF STUDY: To participants & families: - Complete immune & neurological work-ups including brain MRI. - Determination of your child's A-T genotype - Upon study completion, details of your child's neurological and

immune response to the intervention.

To all affected by A-T: - Contributing to treatment options for A-T. - Correlation of phenotype(symptoms & seriousness) with genotype. - Determination of levels of critical cell signalling phospholipids in specific cell membranes(never before measured).

CONTACT:Gerard Berry, M.D. 215-590-3372 Michelle Bergman, R.N. 215-590-1399 - Clinical Research Center Coordinator (Ms. Bergman can provide referrals to other families who have participated).

Reply to: Pam Bower <>