Use of BETAmethasone in Ataxia Teleangectasia

INTERVENTION: Central randomised, double‐blind, crossover study of betamethasone versus placebo, at the dose of 0.05 mg/kg every 12 hours. The substances (betamethasone or placebo) will be administered orally for 30 days (each branch). Between the day 11 and 20, they will slightly tapered for 10 days; then again administered at a full dosage for 10 days. Each branch of the trial will be followed by a washout period of 30 days. Between the day 1 and 10 of each wash out period, the substances will be slightly tapered. Added 01/10/2009: Plasma levels of betamethasone were tested 1 day before entrance into the study and at the 31st day of each arm of the trial. CONDITION: Ataxia teleangectasia (AT) ; Nervous System Diseases ; Hereditary ataxia PRIMARY OUTCOME: Check of the neurological symptoms (Ataxia International Cooperative Ataxia Rating Scale) before and after the drug or placebo. Test schedule: 1 day before the entrance and at the 31st day within each branch of the trial. SECONDARY OUTCOME: Check of the general health status and quality of life before and after the drug or placebo. Test schedule: 1 day before the entrance and at the 31st day within each branch of the trial. INCLUSION CRITERIA: 1. Proven molecular diagnosis of A‐T (alpha‐fetoprotein [AFP] level more than twice the upper limit of normal and demonstration of ATM protein deficiency by Western blot) 2. Evident neurological signs of ataxia (uncoordination of head and eyes in lateral gaze deflection, gait ataxia associated with an inappropriately narrow base) 3. Aged greater than or equal to 3 years, either sex 4. Plasma CD4+ lymphocytes/mm^3 greater than or equal to 500 (3 ‐ 6 years) or greater than or equal to 200 (greater than 6 years) 5. Written informed consent to participate from the parents and verbal consent to participate from the patient, if able to understand the main concepts and aims of the study