National Organization to Treat A-T

 

 

Ataxia-telangiectasia (A-T)

 

a 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.

 

A-T affects energy, balance, immune resistance, handwriting, speech & coordination of eye movements. Children with A-T are of normal intelligence.

 

A-T 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.

Toddlers with 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 infections

    Need for a full time aide in school for handwriting and note taking

    100-fold increased risk of cancer

Cognition is not affected.

 

Mothers of children with A-T have a 9-fold increased risk of breast cancer.

 

About TreatAT

 

The National 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 her.?

 

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 2000.

 

The scientific 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.

 

TreatAT started the only two FDA-approved clinical treatment studies for children with A-T:

 

    Children?s Hospital of Philadelphia:

Effects of myo-Inositol on Cerebellar and Immune Functioning in A-T.? Findings.

 

    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.

 

IRS ID#74-2948168.

Procedures

 

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