Fact Sheets About 
   Ataxia-telangiectasia

  

   - Cancer Risk 

   - Estrogen Replacement

   - Immune Function

   - Swallowing Problems

   - X-Rays

The A-T Clinical Center has been invaluable to us. It provides us with the latest information and therapies for current medical care, a resource for our local doctors and proactive care to continue Andrew's health. Touching base every three years or so has been critical for our family. By being educated and reaffirming Andrew's needs, we are better able to advocate for him and provide information to the local doctors, clinicians and educators who work with him every day.   -Cathy Martin Mother to Andrew, age 10 Warwick, Rhode Island  2009

A-T Clinical Center at Johns Hopkins Hospital and Kennedy-Kreiger Institute

For an appointment contact: Donna Dieterich        
Toll-free: 800-610-5691
Direct: 410-502-3855
  

 

In 1995, the A-T Children's Project established and funded a multidisciplinary, international clinical center at Johns Hopkins Hospital in Baltimore, Maryland to focus solely on the evaluation and treatment of patients with ataxia-telangiectasia. This center provides a centralized clearinghouse for information about management strategies so that doctors around the U.S. and the world do not need to struggle with A-T in a vacuum.

The team of physicians includes specialists in immunology, neurology, and respiratory/pulmonary dysfunction, along with experts in swallowing disorders, physical therapy and adaptive services. An A-T family may typically visit this center every two or three years for a two-day protocol to fully evaluate the patient's condition. Of course, whenever an A-T patient's condition becomes critical, the clinic can immediately use its experience with A-T to assist the home physician in designing a treatment.

This clinic is important to A-T research as well, as clinical experience always assists scientists in devising new research strategies. It is always important to have a strong link between the research lab and the clinic. In addition, if any potential therapies are developed, it will be helpful to have a main center with a patient base already in existence, making the implementation of clinical trials much easier.

Some Accomplishments So Far...
Since being established, the clinical center has made significant progress in defining the clinical symptoms of A-T. The physicians have:

 

• identified dysfunctional swallowing with aspiration as a critical cause of pulmonary disease,

• developed tools for assessing the long-term neurological deterioration of A-T,

• described a relatively common problem of dysgammaglobulinemia that may have important implications for understanding the immunologic perturbations of A-T,

• defined growth abnormalities in children with A-T with the aim of developing a hypothesis for their cause,

• looked at the relationship between vitamin A levels and lymphopenia in children with A-T -- a study undertaken because vitamin A deficiency is a common factor linking growth failure and lymphopenia,

• identified a new hazard to older individuals with A-T: the development of progressive central nervous system vascular abnormalities, and

• collected and analyzed data on the difficulties with cognitive performance that A-T patients face as they age. 

The Ataxia-Telangiectasia Clinical Center
(Established and funded by the A-T Children's Project)
Room CMSC 1102
The Johns Hopkins Hospital
Baltimore, Maryland 21287-3923

 
Director: Howard M. Lederman, MD, PhD

Phone: 410-955-5883
Fax: 410-955-0229
 
For an appointment contact:

Donna Dieterich  

Toll-free: 800-610-5691

Direct: 410-502-3855