Charlotte's Cure - About A-T

Ataxia-Telangiectasia (A-T) is a rare, inherited neurodegenerative disease that affects multiple body systems.

Caused by mutations in the ATM gene, A-T leads to progressive loss of muscle control, balance, and coordination (ataxia), weakened immune function, difficulty swallowing, and a significantly increased risk of developing cancers - especially leukemia and lymphoma. Many children with A-T rely on wheelchairs by adolescence and face complex medical challenges throughout their lives.

Because the ATM gene plays a critical role in DNA repair, A-T is closely linked to cancer biology, making research into A-T highly valuable for understanding and treating cancer and other neurological disorders like Parkinson’s and Alzheimer’s. Advancing A-T research not only offers hope to affected children and families, but may also unlock insights that benefit millions of others.

Research & support

The A-T Children’s Project is a nonprofit dedicated to accelerating research and finding a cure for ataxia-telangiectasia (A-T), a rare and devastating neurodegenerative disease. By funding cutting-edge science and supporting families affected by A-T, the organization brings hope, collaboration, and progress to a community in urgent need.

ATCP Website

A-T Research: Hope Through Science

Researchers around the world are working to better understand Ataxia-Telangiectasia (A-T) and develop effective treatments to slow or stop its progression. Because A-T affects DNA repair, the immune system, and brain function, research spans multiple disciplines - offering hope not only for families affected by A-T, but for the broader medical community.

Some of the most promising areas of A-T research include:

Gene Therapy: Scientists are working to develop ways to replace or repair the mutated ATM gene, which causes A-T. Early studies using viral vectors and gene editing tools like CRISPR show potential in restoring ATM function in cells.
Drug Repurposing: Several clinical trials are exploring whether existing FDA-approved drugs can improve symptoms or delay progression of A-T. These include medications used to treat cancer, inflammation, or neurological conditions.
Neuroprotection and Brain Health: Researchers are studying compounds that protect brain cells from the damage caused by ATM deficiency, with the goal of slowing down the loss of coordination and motor skills.
Cancer Research: Because people with A-T have a higher risk of certain cancers, A-T studies are also contributing to our understanding of cancer development and treatment especially in the areas of DNA damage response and immune system dysfunction.

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