rare, progressive, multi-system genetic disorder that attacks the
neurological & immune systems of children who carry two copies of a
defective A-T gene - one copy from each parent. There are about 700 children
in the U.S. with A-T.
affects energy, balance, immune resistance, handwriting, speech &
coordination of eye movements. Children with A-T are of normal intelligence.
is characterized by progressive cerebellar ataxia beginning between one and
four years of age, oculomotor apraxia, frequent infections, choreoathetosis,
telan-giectasias of the whites of the eyes, immunodeficiency, and an
increased risk for malignancy, particularly leukemia and lymphoma.
Individuals with A-T are unusually sensitive to ionizing radiation.
A-T tend to be "wobbly" walkers. In the preschool years, the child
with A-T begins to stumble and fall. By age 8, most children with A-T use a
walker; by age 10 a wheelchair.
Over 50 percent of children with
A-T develop cancer by 10 years of age.?
With rare exceptions, individuals with A-T that live beyond the early
twenties die of lung complications similar to those in cystic fibrosis.?
As the disease progresses, the child with
A-T also tends to experience the following:
Hand tremors and extreme fatigue
Dyscoordination of eye muscles
making reading functionally inadequate
High sensitivity to radiation,
including X-rays and radiation from the sun
Increased risk of respiratory
Need for a full time aide in
school for handwriting and note taking
100-fold increased risk of cancer
is not affected.
of children with A-T have a 9-fold increased risk of breast cancer.
Organization to Treat A-T is a non-profit public charity that supports treatment
research for children with Ataxia-Telangiectasia, a rare genetic syndrome
that causes progressive neurological deterioration, immune deficiency, and
cancer in children who carry two copies of a mutated A-T gene. Carriers of
one copy of this gene (up to 5 million in the U.S. alone) do not develop A-T,
but have a significantly increased risk of cancer.
TreatAT operates out of Austin, Texas. The founder of TreatAT directed
the research activities of a different A-T research organization from 1991-1999.? With a vision to place more emphasis on
human studies, as opposed to animal models, Dr. Cunningham founded TreatAT in
2000, and brought existing treatment studies and studies-in-development with
A dynamic and
experienced working board, with lots of volunteer help, runs TreatAT. There is no
salaried staff.? Overhead runs seven
to eight percent. Dr. Cunningham is board president and founder. She also conducts research on the effects
of trace alcohols, and has a private psychological practice.? Her son, Patrick, had A-T. He died August
advisory board serves to advise about the general direction of research and
the advisability of specific research projects. The scientific advisers are
Peter Oates, Ph.D., Pfizer, Inc. and Mark Yorek, Ph.D., VA Medical
Center/University of Iowa School of Medicine.
started the only two FDA-approved clinical treatment studies for children
Children?s Hospital of Philadelphia:
Effects of myo-Inositol on
Cerebellar and Immune Functioning in A-T.?
Evaluation of Mitochondrial Generated
Reactive Oxygen Species (ROS) In Patients with Ataxia-Telangiectasia.? Pilot in progress.
The A-T gene is one of the
most important cancer-related genes. Whatever we learn about A-T will further
the prevention & treatment of cancer in the general population.
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