Ataxia telangiectasia (A-T)
About
A-T is an autosomal recessive inherited disease caused by mutations in the ATM gene that lead to defective DNA damage repair. It is characterized by progressive cerebellar ataxia, telangiectasia, immune deficiency and susceptibility to cancer. Core dilemmas: ① There is currently no effective treatment to prevent nervous system progression;② Immune deficiency leads to repeated infections;③ The risk of cancer is significantly increased;④ Extreme sensitivity to ionizing radiation.
Features & Symptoms
- ATM gene mutation
- DNA damage repair deficiency
- Progressive cerebellar ataxia
- Immune deficiencies and cancer susceptibility
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Gene Therapy (AAV-ATM) | AAV vector delivery of normal ATM genes is currently in the early stages of research. | 临床前/Phase I | $1M - $3M/次（一次性） |
| immunoglobulin replacement | Intravenous immunoglobulin replacement therapy for patients with immunodeficiency. | 临床应用 | $80K - $200K/年 |
| Comprehensive rehabilitation management | Including comprehensive programs such as physical therapy, infection prevention, and cancer screening. | 临床应用 | $100K - $250K/年 |
Prognosis
Death 20-30 years after onset, mainly due to infection or cancer
Additional Notes
Notes: Genetic testing recommendations: ATM gene testing is recommended, and immune function and tumor risk need to be evaluated after diagnosis; Infection prevention: Preventive antibiotics and immunoglobulin replacement therapy are required; Cancer screening: Regular screening for lymphoma and leukemia is required (blood routine and imaging every 6 months); Radiation protection: ATM gene mutations cause DNA damage repair defects, and ionizing radiation such as X-ray and CT should be strictly avoided. MRI is the preferred imaging method; Lung function monitoring: Interstitial lung disease is common, and regular lung function examinations are required.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study Phase: Pre-clinical/Phase I. Prognosis: Death 20-30 years after the onset, mainly due to infection or cancer.
Frequently Asked Questions
What is Ataxia telangiectasia (A-T)?
A-T is an autosomal recessive inherited disease caused by mutations in the ATM gene that lead to defective DNA damage repair. It is characterized by progressive cerebellar ataxia, telangiectasia, immune deficiency and susceptibility to cancer. Core dilemmas: ① There is currently no effective treatment to prevent nervous system progression;② Immune deficiency leads to repeated infections;③ The risk of cancer is significantly increased;④ Extreme sensitivity to ionizing radiation.
What are the symptoms of Ataxia telangiectasia (A-T)?
ATM gene mutation,DNA damage repair deficiency,Progressive cerebellar ataxia,Immune deficiencies and cancer susceptibility
How is Ataxia telangiectasia (A-T) treated?
Gene Therapy (AAV-ATM): AAV vector delivery of normal ATM genes is currently in the early stages of research.; immunoglobulin replacement: Intravenous immunoglobulin replacement therapy for patients with immunodeficiency.; Comprehensive rehabilitation management: Including comprehensive programs such as physical therapy, infection prevention, and cancer screening.
What is the prognosis for Ataxia telangiectasia (A-T)?
Death 20-30 years after onset, mainly due to infection or cancer