Genetic Alliance UK's role is to get a broader understanding of the impact of living with the condition. As is often found with rare conditions, there are limited scientific and biomedical data around the condition. We will o perform a literature review to identify gaps in evidence. This was then used to develop an online survey to capture the views of a larger group of parents (from a European perspective) and the experiences of the day-to-day impact of the condition.
Problems addressed by Initiative
Babies and children with adrenal insufficiency (AI) (in most cases they have congenital adrenal hyperplasia - CAH) need treatment with hydrocortisone because their bodies do not produce enough cortisol. There are currently no licensed therapies available for children aged 6 and under, so clinicians must resort to adapting adult formulations.
TAIN is a clinical trial, funded by the European Commission, which aims to develop and evaluate a formulation of hydrocortisone for children, known as Infacort®. TAIN is coordinated by the University of Sheffield and will include short term safety studies and Phase 3 clinical studies in neonates and infants. The Genetics Alliance UK performed a specific patient representative role in the consortium. Its role is to undertake research with parents of children with AI to get an insight into the impact of living with condition, including psychosocial impact. There are currently no licensed therapy for neonate patients with adrenal insufficiency, which is especially acute in this young patient age group. There was also very little evidence from a patient (main caregiver) perspective about the psychosocial impact of the condition.
Supporting: We seek to raise awareness of genetic conditions and improve the quality of services and information available to patients and families. Campaigning: We actively campaign on issues of policy and practice to i...