Aparito has worked extensively with the wider Gaucher community to develop disease-specific digital endpoints to support patients.
Gaucher disease is a lysosomal storage disorder caused by mutations in both copies of the GBA1 gene, which can have a wide range of effects on organs throughout the body. Gaucher disease has three subtypes, which vary by the presence or absence of neurological symptoms, severity of symptoms, age of onset and age at death.
Conveying disease impact and disease-specific hallmarks in young children with devastating rare diseases, such as neuronopathic Gaucher disease, can be challenging. Innovative technology now allows patients and parents to capture outcomes that are important to them with minimal burden and effort. This is an important move towards designing clinical trials that are patient-centric and reducing time spent in hospital visits.
This innovative technology approach was utilized in one of Aparito’s first studies to evaluate the disease activity of Type 1 and Type 3 Gaucher patients using wearable technology and a disease specific mobile phone app. The study, which was supported by Sanofi Genzyme and Shire Pharmaceuticals, illustrated that a rich dataset is obtainable and useful for proactive clinical care and for clinical trial outcomes.
Aparito also coordinated the phase one development of a global patient registry for neuronopathic Gaucher disease on behalf of the International Gaucher Alliance in order to increase disease knowledge and understanding, as well as develop new outcome measures and support emerging drugs/ treatments in the pipeline.
As part of this work, Aparito’s CEO Dr Elin Haf Davies was instrumental in the development of a disease-specific Patient-Reported Outcomes and Caregiver Reported Outcome, which will be undergoing construct validity assessments in the coming months as part of the registry development. This was presented at the 2020 European Working Group on Gaucher Disease.
More recently, Aparito, working with Prevail Therapeutics Inc. (Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, created a mobile app solution to be used in Prevail’s PROVIDE trial. PROVIDE is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose PR001 in infants diagnosed with Type 2 Gaucher disease. PR001 is being developed as a potential disease-modifying, single-dose gene therapy for Type 2 Gaucher disease and Parkinson’s disease with GBA1 mutations.
Type 2 Gaucher disease, the most severe form of Gaucher disease, affects infants and toddlers. It causes rapid and irreversible brain damage beginning in the first six months of life; patients typically die by age two.
The mobile app developed for PROVIDE will capture both clinician and parent-reported assessments of Type 2 Gaucher disease, including feeding and the attainment of developmental milestones. Parents will also use the app to report any seizures that the child may experience.
We are excited to partner with Aparito and use their technology to broaden how we evaluate the effects of PR001. Type 2 Gaucher disease is the severe, progressive neuronopathic form of Gaucher disease for which there are no approved treatments, and the use of a digital biomarker endpoint in our study will provide a supportive measure of disease burden and severity.Dr. Eriene Wasef, Medical Director
It’s been a real honour to collaborate with the team at Prevail on this innovative initiative. I have worked with the Gaucher community for over 18 years, and this study brings much needed hope. Knowing the disease so well has helped us to co-develop a digital endpoint that can convey a meaningful and objective measurement without being a burden to patients and families.Dr Elin Haf Davies, CEO at Aparito