Study to understand fatal genetic diseases in children becomes first to incorporate a digital participant education programme

A pioneering clinical trial was launched last week to help researchers understand how two rare and fatal genetic diseases develop in children and provide insight into treatment for them in the future. The study, run by Azafaros, will follow patients in the UK, US, France, Italy, Germany and Brazil for four years.

The PROspective Neurological Disease TrajectOry study (PRONTO) is a Natural History Study that follows children who have been diagnosed with GM1 or GM2 gangliosidoses (also known as Tay-Sachs and Sandhoff disease), a class of rare inherited disorders that are fatal in childhood and which currently have no approved treatments.

PRONTO is the first clinical study to incorporate an educational and visually engaging programme, co-created with the target audience, to improve participant understanding of the study. Education for participants of the study, has been designed and developed by Cognitant, a patient-centred health information provider, together with patient advisory groups.

The co-creation approach, conducted by Cognitant, included workshops with clinicians and a group of international patient advocacy groups; Accion y Cura para Tay Sachs (ACTAYS), Cure & Action for Tay Sachs Foundation (CATS), the National Tay Sachs and Allied Diseases Association and the Cure GM1 Foundation.

The result of the co-creation is a series of short educational interactive animations to support families and caregivers enrolled in the study.

The aim of these visually engaging resources, which can be accessed via a dedicated online knowledge centre by patients and their families, are to improve participant experience and their understanding of what will be required throughout the study.

PRONTO is the first natural history study in a rare disease to use this approach to patient education. It forms part of a drive by the pharmaceutical industry to involve patients, healthcare workers and patient advocacy groups in the design of clinical studies and treatments.

The interactive animations, which typically last one to two minutes, are provided in a range of languages to maximise the impact that the resources created can have.

Speaking about the study, Dr Tim Ringrose, CEO of Cognitant said: “It has been a privilege to work with the GM1 / GM2 community to help families understand what to expect from the PRONTO natural history study. It’s been an excellent demonstration of the value of involving patients, families, and carers in the design of a programme and has resulted in something a lot more understandable and reassuring, benefiting the community and supporting what we hope will be a very successful and worthwhile study.”

Diana Pangonis, Director of Family Services, from the patient advocacy group the National Tay-Sachs and Allied Diseases (NTSAD) said: “Collaborating and empowering families and parents is vital to the success of any project and Azafaros understands this by establishing a ‘co-creation framework’ in developing the PRONTO digital educational resources about the release of the company’s natural history study along with advocates like myself. It was meaningful experience for us all.”