Access to treatments

Nonprofit Foundations Launch Study to Improve Preclinical Research

  • Duchenne UK joins Charley’s Fund and team of patient organizations to support critical study to improve decision-making in Duchenne muscular dystrophy preclinical research
  • The grant provides $314,000 USD to the labs of Professor Annemieke Aartsma-Rus and Dr. Maaike van Putten (Leiden University Medical Center) and Professor Annamaria De Luca (University of Bari) for a study to identify new and updated best practices in the use of two mouse models of Duchenne when evaluating potential new drugs
  • This study grows out of and advances the goals of an ongoing global initiative called ‘Of Mice and Measures’ to improve models and methods for preclinical research in Duchenne muscular dystrophy (DMD)
  • Study outcomes will be made available open-access to help accelerate all DMD drug development

In recent years, the Duchenne muscular dystrophy (DMD) field has seen an increasing number of medicines being tested in clinical trials. Selecting which treatments to advance to human testing is a critical decision, especially given Duchenne’s aggressive progression and urgent unmet medical need, coupled with the recruitment challenges faced by rare disease populations. 

Several years ago, Charley’s Fund -- in partnership with leading scientists from the DMD community -- launched a global, collaborative initiative to improve how the Duchenne research field decides which drugs have the best chance at success and should advance to human clinical trials. At a 2018 workshop, representatives from 22 institutions gathered to discuss results from a community-wide data collection and analysis effort. The results provided a data-driven understanding of the extent of variability and inconsistency present in DMD preclinical research practices today. For example, across 10 leading labs and more than 18,000 datapoints analyzed, not one single outcome was assessed in all labs. To help solve this problem, the group recommended a study specifically designed to obtain the data necessary to establish best-practice guidelines that all labs could apply, starting with updates to best practices for the gold-standard mouse model (some of which have not been revisited for more than a decade) and establishment of best practices for a promising but emerging model.

The study announced today reflects the input of that workshop and is designed to gather the necessary data in rigorous, replicated fashion. The teams of Profs. Aartsma-Rus and De Luca will run parallel, matching 52-week studies of two mouse models of DMD – the current gold standard C57BL/10ScSn-Dmdmdx/J model and the emerging D2.B10-Dmdmdx/J model – and conduct assessments of some of the most commonly used behavioral, anatomical, and physiological DMD-relevant assays. The broader Of Mice and Measures scientific organizing committee will provide ongoing input as needed, and an independent biostatistician will participate in designing and validating the data analyses.

The study teams will use the results to draft updated, comprehensive, best-practice guidance on how to use each of the two models depending on the research objective at hand, as well as identify open questions for continuing research. DMD scientists and companies will then have open-access to the guidance to better identify relevant methodologies and study designs, as well as improve consistency and comparability of data. Funding organizations will likewise have access to these recommendations for consideration when reviewing research proposals.

“We need to give promising science the best shot at advancing quickly,” said Laura Dalle Pazze, President and COO of Charley’s Fund. “We also need better ways to weed out ineffective therapies early, before patients and families get involved in clinical trials. We’re always going to have clinical trials that fail -- if we knew the answers in advance, we wouldn’t need the trials. But, we need to improve our hit rate, and the only way to do that is to ask hard questions about where we as a field can improve and then do the work to make it happen.”

“We are pleased to be a part of this initiative that looks beyond individual drug development efforts and seeks to develop tools and resources to help all research move forward — especially for this critical inflection point in research.” added Emily Crossley and Alex Johnson, cofounders of Duchenne UK. “The better we equip our research community, the better they can focus on finding drugs that work for the children and young adults who so desperately need them.”

“We are very pleased to have these patient organizations support this important work,” said Profs. Aartsma-Rus and De Luca. “The field is aware of the importance of collecting natural history data for patients; however, doing so for preclinical models – and doing so with this level of thought and rigor – is equally important. We are grateful to work with the international scientific and patient communities to make it happen.”

Of Mice and Measures is an ongoing, collaborative effort to improve models and methods for preclinical research in Duchenne muscular dystrophy. Those interested in learning more can access the initial workshop report here as well as more information at charleysfund.org, including a 2018 World Muscle Society poster. Anyone interested in contributing to the effort with funding, data, or other resources should contact Charley’s Fund President and COO Laura Dalle Pazze at laura[at]charleysfund.org. 

Charley’s Fund is grateful to Duchenne UK, Ryan’s Quest, Michael’s Cause, and Pietro’s Fight for their support in making this new study and key next step in the Of Mice and Measures project possible.


What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?

Duchenne UK is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy.

We are investing millions of pounds in research right now to bring treatments and a cure to help this generation. Duchenne UK is the largest funder of DMD research in the UK. We are also committed to accelerating the pace of research. 90p in every £1 raised is committed to research.

Our president is HRH The Duchess of Cornwall. Our patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

We need your help, because we need to keep funding promising new research.

How to donate?

Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

  • Direct Debit – Duchenne Direct
  • Individual Donation – Donate
  • If you are a family or friend affected by DMD you can set up your own fund with Duchenne UK – Family and Friend Funds
  • Take part in one of our fundraising events – Events
  • Text DUCHENNE to 70085 to donate £5. This costs £5 plus a std rate msg.

For more information visit www.duchenneuk.org

Published on 25 February 2020

Share this article