Minimum effective betamethasone dosage on the neurological phenotype in patients with Ataxia-Telangiectasia: a multicenter observer-blind study
| Autor: | Laura Dell'Era, Andrea Pession, A Soresina, Alessandro Plebani, E. Del Giudice, Claudio Pignata, R. Micheli, Emilia Cirillo, Maria Cristina Pietrogrande, Fernando Specchia, A. M. Cappellari, Rosa Maria Dellepiane |
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| Přispěvatelé: | Cirillo, E., Del Giudice, E., Micheli, R., Cappellari, A., Soresina, A., Dellepiane, R. M., Pietrogrande, M. C., Dell'Era, L., Specchia, F., Pession, A., Plebani, A., Pignata, C. |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male ataxia and gait disorders Pediatrics medicine.medical_specialty Ataxia Dose Adolescent Disease Gene mutation Betamethasone 03 medical and health sciences Ataxia Telangiectasia Young Adult 0302 clinical medicine medicine Humans Child Glucocorticoids Cerebellar ataxia Dose-Response Relationship Drug business.industry SARA scale ataxia-telangiectasia betamethasone primary immunodeficiency Ataxia-Telangiectasia medicine.disease 030104 developmental biology Phenotype Treatment Outcome Neurology Child Preschool Ataxia-telangiectasia Primary immunodeficiency Quality of Life Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Ataxia and gait disorder Primary Immunodeficiency medicine.drug |
| Popis: | Background and purpose Ataxia-telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life. Successful treatment options are still not available. The aim of this multicenter study, performed with a blind evaluation procedure, was to define the minimal effective dosage of oral betamethasone, thus preventing the occurrence of side effects. Methods Nine A-T patients were enrolled to receive betamethasone at increasing dosages of 0.001, 0.005 and 0.01 mg/kg/day. Neurological assessment and the evaluation of quality of life were performed through the Scale for the Assessment and Rating of Ataxia and the Italian version of the Childhood Health Assessment Questionnaire (CHAQ) at each time-point. The drug safety profile was evaluated. Patients were categorized as responders, partial responders and non-responders. Results Four of nine patients had a benefit at a dose of 0.005 mg/kg/day of oral betamethasone. Using the higher dosage, only one additional patient had a positive response. Conversely, a daily dose of 0.001 mg/kg was ineffective. A correlation between the serum adrenocorticotropic hormone levels and the clinical response was observed. Five of 30 CHAQ items improved in four patients. Conclusions These data suggest that a short-term betamethasone oral treatment, at a daily dosage of 0.005 mg/kg, is effective in some patients. Pre-existing risk factors for side effects should be taken into account before therapy. |
| Databáze: | OpenAIRE |
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