Sirolimus Treatment in Pediatric Patients With Ataxia-Telangiectasia

Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk. Although there has been great progress in recent years in understanding its pathophysiology, we have little information that produces any benefit for its treatment. Thus, Sirolimus has a wide variety of potential mechanisms of action that could be beneficial in A-T, including neuroprotective effects, antiangiogenic, anti-infectious, antineoplastic, and aging slower. With that aim, we conducted a pilot study in our hospital evaluating the safety and potential benefit of sirolimus in the disease.

Inclusion Criteria: * Patients younger than 17 years with a clinical and genetic diagnosis of ataxia telangiectasia (A-T). * Written informed consent obtained from parents or legal guardians. Exclusion Criteria: * Concomitant oncologic or hematologic diagnosis. * Current treatment with immunosuppressive agents.