Update on the UK Natural History Study and Wearable Devices

Quick Overview

In this update, Laurent Servais discusses the importance of natural history studies in drug development and access for patients. He emphasizes the need for multiple studies to validate outcome measures and collect data from around the world. Servais shares that a natural history study has been initiated in Oxford and protocols have been shared with other countries and organizations. He also mentions the burden of assessments in clinical trials and the potential of wearable devices for more holistic patient assessment. Servais discusses the outcomes being studied, such as stride velocity and walking perimeter, and the data being collected in ongoing studies. He concludes by expressing gratitude to the people involved and expressing optimism for the future of the field.

Introduction

In this talk, I will provide an update on the UK Natural History Study and the use of wearable devices in the field of medical research. While clinical trials and gene therapy often receive more attention, it is crucial to understand the steps required to ensure that drugs are accessible to every patient worldwide. This process involves presenting successful clinical trial results to regulators, addressing the concerns of payers, and navigating the complexities of drug approval and reimbursement. In this update, I will discuss the importance of natural history studies and the challenges we face in conducting them.

The Importance of Natural History Studies

To ensure successful discussions with regulators and payers, it is essential to have a robust set of data. Natural history studies play a crucial role in this process. These studies help us understand the progression of diseases, validate outcome measures, and collect data from diverse populations worldwide. It is important to note that multiple natural history studies are needed to confirm findings and ensure the reliability of the data.

Progress of the UK Natural History Study

The UK Natural History Study, initiated in Oxford, has gained significant interest from other countries. Several countries, including Belgium, Hungary, France, and Spain, have requested the study protocol. We have received grants from foundations like Leon Frederic in Belgium, enabling us to recruit our first patient soon. Additionally, we have shared our protocol with academic patient advocacy groups and pharmaceutical companies, demonstrating the value of the investment made by FAST UK.

Challenges and Learnings from Natural History Studies

Natural history studies and clinical trials can be burdensome for patients, especially children. The extensive assessments required to evaluate various aspects of the disease can be time-consuming and challenging for patients. EEG exams, in particular, have been identified as the most burdensome. We have also learned that organizing assessments over two days and allowing patients to sleep at home, even with the challenges they may face, can be more beneficial for their well-being.

The Role of Wearable Devices

Wearable devices offer a more holistic assessment of patients and the ability to monitor them over an extended period. Initially, we believed that patients with certain conditions, such as Angelman syndrome, would not accept wearing these devices. However, we have found that wearing them on the ankle is not an issue. We have updated our wearable device, now called Side, to be lighter and smaller, making it more suitable for patients with conditions like multiple sclerosis, Parkinson’s disease, and spinal muscular atrophy.

Outcome Measures and Data Collection

We are working on several outcome measures, including stride velocity, walking perimeter, force or kneeling, and ataxia. Some of these measures are well understood and have reliable data, while others are still being characterized. We have recorded over 9,000 hours of data in Angelman syndrome patients through ongoing natural history studies and therapeutic trials. This data is invaluable in determining the best outcome measures for successful clinical development.

Regulatory Perspective and Future Outlook

We are preparing a letter of intent for the FDA, which we hope to send early next year. Moving forward, we anticipate gathering more data and achieving significant results in the field. The progress and momentum in this field are remarkable, and I am proud to be a part of it. I look forward to the year ahead and the advancements we will make in improving patient outcomes.

In conclusion, natural history studies and wearable devices play a crucial role in the development of effective treatments for patients worldwide. By understanding disease progression, validating outcome measures, and collecting reliable data, we can ensure that drugs are accessible to all who need them. The challenges we face in conducting these studies are significant, but the progress we have made and the potential for future advancements are truly inspiring.