Ataxia Telangiectasia (AT) Clinical Trial
Official title:
Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)
Ataxia Telangiectasia (AT) is an autosomal recessive inherited condition caused by mutations
in the ATM gene1. Patients suffer from neuro-degenerative problems, usually commencing in
the second year of life, and affecting predominantly the cerebellum. They also develop the
characteristic superficial telangiectases. Between 60 and 80% of affected children are
immunodeficient. This is associated with deficiency of immunoglobulin A (IgA ) 2, of IgG23
and of antibody responses to pneumococcal polysaccharides4. Patients suffer recurrent
sino-pulmonary infections but a recent study suggests poor correlation between immune status
and immunological parameters5. If uncontrolled, recurrent pulmonary infections can
contribute to the development of chronic lung disease and bronchiectasis. Preventative
management includes continuous prophylactic antibiotic treatment in some with the need for
replacement immunoglobulin therapy in only a small proportion of cases. Antibiotics have
been reasonably effective in this situation but the emergence of resistance amongst
community acquired pneumococcal isolates is a cause for concern. Appropriate immunisation
strategies may also have a role.
This study is designed to look at antibody responses in a one versus two dose regimen in a
cohort of AT patients recruited through the AT Society a national charitable organisation
involved in providing support to families with this condition and in fostering education and
research in the field.
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Primary Purpose: Basic Science