The move towards patient-powered, data-driven rare disease drug discovery

By Rayne Rodgers, Vice President and Executive Director of MOVR for Muscular Dystrophy Association (MDA), and Sharon Hesterlee MDA’s Executive Vice President and Chief Research Officer.

As an umbrella organisation representing those living with more than 40 types of neuromuscular disorders, the Muscular Dystrophy Association (MDA) contributes significantly to innovations in science and care. And we are accelerating rare disease research and drug development through a new data-driven, patient-powered approach.

As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases.

Because of this broad reach, our datasets are extremely valuable assets.

To develop new therapies – or even to understand how current standards of care are working – you need a lot of data, and this is always in short supply in rare diseases. We securely collect important data on over 60,000 consenting patients every year in our network of 150 MDA Care Centers.

In order to make the most of this resource, we moved beyond the traditional patient registry in 2018 to create MOVR (neuroMuscular ObserVational Research), the first and only real-world data hub that aggregates regulatory quality clinical and genetic data for multiple neuromuscular diseases on the same platform. We started with seven disease indications (amyotrophic lateral sclerosis, spinal muscular atrophy, Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy and Pompe disease).

After we began collecting data, we wanted to ensure that the MOVR data were more accessible. So we partnered with biomedical informatics company DNAnexus to develop a visualisation and reporting platform.

Created with both clinicians and researchers in mind, the MOVR visualisation and reporting platform features an intuitive and customisable interface, allowing different levels of analysis. Clinicians at the currently 38 (and growing) participating MDA Care Centers can easily access details about their individual patients, and researchers at the national level can review aggregate de-identified data on disease progression and outcomes across sites by accessing it in a secure, HIPAA-compliant manner.

By aggregating small populations of rare disease patients into one comprehensive data set, we can track disease progression over time and determine which clinical measurements best predict changes in a disease. This, in turn, could lead to improved clinical trial design and the development of appropriate outcome measures to better determine if a drug is effective in treating the disease. And once a drug is ready for testing, the MOVR visualisation and reporting platform can enable researchers to rapidly identify populations that meet specific clinical criteria. With rare diseases, it is especially important to identify every person who might be eligible and willing to participate in a clinical trial.

This level of correlative analyses could ultimately stimulate new drug, biologics and gene therapy discoveries. And the data hub is not just a collection of material to be mined by our own physicians and researchers; it was purpose built to be rigorous enough that the data could be used in future regulatory submissions for clinical trials or drug approvals.

The platform currently leverages phenotype data from the MOVR Data Hub, but enables us to scale as needed. The DNAnexus platform was designed to handle a wide range of EHR and genetic data types.

Launched in September 2020, we are already leveraging the technology to identify potential health disparities and help us decide where to focus our resources to overcome them. By studying data from cohorts with Duchenne muscular dystrophy, for instance, we are able to track the age at which children are diagnosed with the disorder and whether it varies by geographic region. The data hub and its visualisation platform will be increasingly useful for prospective studies going forward.

In addition to our own studies, the data will be valuable for our partners in academia, biotech and pharma.

MOVR data could potentially be used to create virtual placebo groups for clinical trials; a subset of patients in the data hub with a given condition would serve as a control arm in a clinical trial to compare against those patients receiving a certain therapy.

It can also provide a great way to de-risk a pharmaceutical program, by helping companies define their target population and their needs, and better understand the potential market for their products.

And patients are empowered by knowing they are contributing to research.

We are excited about the potential of MOVR to provide data that will be meaningful to numerous stakeholders, from patients to clinicians to pharma and biotech companies interested in developing drugs for neuromuscular diseases.

Having adequate data in rare disease is unusual. By unleashing the power of our MOVR dataset, we are able to truly make patients part of the solution, and partner with pharma to accelerate progress in the race toward transformative therapies. We believe this is the future of drug development, and that this approach holds great promise across all disease types.

 

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