Therapeutic Approaches to Nutrition in Ataxia-Telangiectasia: a Randomised Controlled Matched Cross-over Trial

INTERVENTION: Participants will be matched for age and randomised to Group A and Group B. All will be required to follow advice from the same dietitian during 2 x 12‐week treatment periods: Treatment period 1 ‐ Group A will receive i) standard nutritional advice (to meet individual energy/protein and recommended nutrient requirements including standard vitamin and mineral supplement) and Group B will receive ii) standard nutritional advice (to meet individual energy/protein and recommended nutrient requirements including standard vitamin and mineral supplement) PLUS therapeutic antioxidant‐rich food‐based advice (individuals provided with food‐based ingredients and instructions for making into an anti‐oxidant‐rich drink). This will be followed by a 4‐week washout period. Groups will then cross‐over treatments. Treatment period 2 ‐ Group A will receive ii) standard nutritional advice PLUS therapeutic antioxidant‐rich food‐based advice and Group A will receive i) standard nutritional advice. All participants will receive an initial 1 hour one‐on‐one session with the dietitian followed by weekly telephone calls from the dietitian allowing a half hour to answer questions and provide support. CONDITION: Ataxia‐telangiectasia PRIMARY OUTCOME: changes in serum levels of interleukin 8 (IL‐8) inflammatory biomarker previously shown to be elevated in 50 A‐T patients compared with controls without A‐T (P<.0001) suggesting systemic inflammation contributes to A‐T disease characteristics (McGrath‐Morrow et al 2010). changes in serum levels of quinolinic acid previously identified as a surrogate marker for neurodegeneration based on a role in neurodegenerative disorders Alzheimer's and Huntington's disease (Zwilling et al 2011), SECONDARY OUTCOME: Changes in anthropometric measures. ; Height and weight will be measured at baseline and 12 and 24 months (BMI and z‐scores calculated). Total Body Potassium (TBK) and lean muscle and fat mass (BodPod) will be measured at baseline and 12 and 24 months. Short term changes in weight will be self‐reported over the telephone. Changes in nutritional intake as measured by diet history interview (food composition software will be used to analyse this data in terms of daily averages for intakes of energy, macronutrients, micronutrients and food groups) changes in quality of life (participants and parents/carers) using the following questionnaires (DASS21; Strengths and Difficulties Questionnaire; satisfaction questionnaire) INCLUSION CRITERIA: Ataxia‐telangiectasia diagnosis and attending the National Ataxia Clinic at Royal Brisbane Hospital