Treatment Research & Clinical Study Opportunities
Researchers Affiliated with the A-T Project
Research projects and collaborative efforts are currently underway at Children's Hospital of Philadelphia/University of Pennsylvania, Duke University Medical Center, M.D. Anderson Science Park-Research Center at Smithville, University of California at Los Angeles, University of Texas at Austin (Biochemical Institute, College of Pharmacy & Neuroscience Institute), University of Houston and University of Iowa.
Treatment Research Projects:
Myo-Inositol Clinical Treatment Study
(the first-ever clinical treatment study on A-T!)
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Update: Study to re-open based on preliminary positive results.
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See press release:
-- First-Ever Clinical Study on Cancer-linked Childhood Disease -- Ataxia-Telangiectasia: Promising Results
Title of Study:
Effect of myo-Inositol Therapy on Cerebellar and Immune Functioning and Activities of Daily Living
Institution:
Children's Hospital of Philadelphia
Principal Investigators:
Gerard Berry, M.D.
Peter Bingham, M.D.
Kathleen Sullivan, M.D., Ph.D.
Study Description:
Double-blind placebo-controlled randomized crossover clinical research study
at the NIH-funded Clinical Research Center at Children's Hospital of Philadelphia to investigate a nutritional therapy for A-T. See report of preliminary results. Doctors and parents are welcome to call or email Dr. Gerard Berry for information (215-590-3372 or berry@email.chop.edu).
-- Read about One Family's Experience in Philadelphia
Working Group to Establish the A-T Biochemical Phenotype:
Study Description:
To delineate the precise biochemical make-up of patients with A-T with the goal of identifying a missing factor or factors that might point the way to identifying more potential treatments. Determination of levels, in blood samples shipped through the patient's doctor, of a list developed by the working group of critical compounds including vitamins, cofactors, and fatty acids in 22 subjects with A-T and 22 heterozygote carriers.
Members of the Working Group:
Gerard Berry, M.D., Children's Hospital of Philadelphia
Richard Gatti, M.D., UCLA
David Millington, Duke University
Ann Moser, Kennedy Krieger Institute
Mark Yorek, University of Iowa
Contact the A-T Project for more information (mhoward@atproject.org).
A-T Inositol-Phospholipid Biochemical Study:
Subcellular Investigation of intracellular inositol phospholipid metabolism in subjects with A-T; Effects of myo-inositol treatment on inositol phospholipid membrane stores.
Children's Hospital of Philadelphia
Gerard Berry, M.D.
Nutritional and Metabolic Requirements of A-T Lymphocytes
Determination of abnormal metabolic requirements in A-T using fresh lymphocyte growth assays.
William Shive, Ph.D. and Flora Pettit, Ph.D.
University of Texas at Austin
Research on immune function and nutrient requirements in A-T using fresh A-T lymphocytes, and vitamin and nutritional therapies to correct function at the University of Texas Biochemical Institute. Investigation of deficient vitamin co-enzyme functioning and vitamin transport systems; studies of antioxidant functioning and interventions to increase protective antioxidant effects. Individual families, through their doctors, receive a specific list of supplements shown to be required by their child for normal lymphocyte growth/response.
Open to individual patients, with their doctor's permission. Requires one green-top tube of whole blood which must be hand-carried to UT, due to extreme fragility of A-T lymphocytes. Contact UT for application information (512-471-3662 or elainehr@mail.utexas.edu). Contact The A-T Project regarding transport of blood.
Uptake of myo-Inositol in A-T Fibroblasts
University of Iowa School of Medicine/VA Medical Center
Mark Yorek, Ph.D.
Results published in the scientific journal Biochemistry/Biophysics Acta. Link will be established.
Phospholipid Metabolism in Subcellular Fractions of Cultured Human Normal and A-T Fibroblasts Arrested in Various Phases of the Cell Cycle
University of Houston
Arturo Manzo-Fontes (dissertation research)
Joe Eichberg, Ph.D.
Examination of the incorporation of phospholipids from subcellular fractions of cultured fibroblasts arrested in phases of the cell cycle. Go-G1 phase completed.
Food Alcohol Project
University of Texas at Austin
Rueben Gonzales, Ph.D., Department of Pharmacology
Mary Cunningham-Howard, Ph.D., Department of Educational Psychology
The Food Alcohol Project has two areas of investigation. First, pharmacological research is measuring levels of ethanol and methanol in non-alcoholic foods, beverages and medicines. Over 350 non-alcoholic foods, beverages and medicines have been analyzed. Most contain low levels of alcohol, as summarized at
The alcohol-free diet is being developed, based on A-T family reports that avoidance of all alcohols appears to help neurological functioning (better balance, clearer speech, less tremor). Development of potential dietary management strategies include identification of antagonistic foods and chemical compounds that appear to be harmful.
Secondly, the Food Alcohol Project is investigating the effects of these low levels of alcohol on performance. Baseline research has investigated the effects of alcohol in non-alcoholic beverages (a bottled non-alcoholic fruit juice beverage) in normal children, compared to alcohol-free non-alcoholic beverages (a flavored drink reconstituted from a powder). Results of this study can be accessed by abstract at Unintentional Ethanol Consumption: Acute Effects on Blood Alcohol Levels and Performance in Children, or by contacting mhoward@atproject.org.
The next stage will be to address the effects of alcohol in non-alcoholic beverages in children with A-T.
Development of a Behavioral Outcome Measure to Assess Treatment Results in A-T
University of Texas at Austin
Barbara Dodd, Ph.D., UT Measurement and Evaluation Center, Department of Educational Psychology
Mary V. Cunningham-Howard, Ph.D., Department of Educational Psychology
Psychometric development of the Behavioral Manifestations of Metabolism Inventory (BMMI) in progress. The pilot BMMI was used in the A-T Clinical Treatment Study at Children's Hospital of Philadelphia.
A-T Mouse Studies
M.D. Anderson Cancer Center - Science Park
Paul Wong, Ph.D.
William Lynn, M.D.
These researchers are investigating means to bypass the regulatory function of ATm in these ATm (-/-) mice and thus prevent neuronal and immune cell dysfunction, the overproliferation and dysfunction of astrocytes, and the transformation of T cells.
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