Alex Johnson, Duchenne UK co-founder, and Sejal Thakrar, Duchenne UK patient advocate, are authors on a paper published today in Neuromuscular Disorders Journal entitled "Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective"

The paper is a collaborative effort with Duchenne Parent Project Netherlands, Leiden University Medical Center, Parent Project Onlus, Italy, Parent Project MD, US, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health.

We would like to thank everyone in the DMD community who completed the muscle biopsy survey, your contribution enabled us to gather the data for this paper.

In 2017 we organised a meeting to discuss and evaluate the outcome measures that are currently used in clinical trials with patients, patient organizations, clinicians, researchers and companies developing drugs for Duchenne.

One of the sessions during the day involved a discussion on muscle biopsies. This session was led by the muscle biopsy working group which included a patient, a representative from a patient organization, clinicians and researchers. During the discussions in that session it was felt that very little data had been collected on the patient perspective on muscle biopsies.

To address this the muscle biopsy working group decided to devise a survey to allow us to better understand patients views and look at how we can improve the patient and caregiver experience when carrying out muscle biopsies in clinical trials.  

The results of this survey have been analysed and included in the paper published today.

The paper gives several recommendations for future studies to ensure a better patient experience with muscle biopsies.

View the paper here.

Read the highlights, abstract and future recommendations below:

Highlights
• Responders identified short term pain and long-term scarring as important impacts.
• 79% were little bothered about the scar, 21% were moderately or severely bothered.
• Communication of results was considered important, but received by only 26%.
• 78% of caregivers would consider another biopsy if needed for trial participation.
• Acceptability of biopsies in a trial depends on the inclusion of a placebo group.

Abstract
The number of clinical trials for Duchenne muscular dystrophy is increasing. Many trials require muscle biopsies, which involve an invasive surgical procedure. Little is known about short- and long-term impacts of muscle biopsies as perceived by patients and caregivers. Therefore a survey was held among patients and their caregivers who participated in trials involving muscle biopsies, in seven countries. Seventy-eight responses were received. Analysis revealed that many patients and parents had significant anxiety before the biopsy. The main concern of caregivers was the required general anaesthesia. In most cases biopsies caused pain and temporarily hampered daily activities. The main long-term impact was scarring, although large variation in size was reported. Seventy-nine percent of caregivers were little bothered and 21% were moderately or severely bothered by the scar. Willingness to consider another biopsy in future protocols was higher for open-label studies than for placebo-controlled trials. Caregivers stressed the importance of knowing the results of biopsy analyses; only a minority actually received this information. Recommendations are made on the informed consent procedure regarding risks and consequences of muscle biopsies, and communication of results. Furthermore, efforts should be made to minimise the impact of biopsies through pain management and by considering plastic surgery.

Future recommendations
Based on our study we propose several recommendations for future studies. Firstly, sponsors should be very careful when considering to include one or more biopsies in their clinical trial. For early phase trials a biopsy to confirm mechanism of action of a drug may be unavoidable, while for later phase placebo-controlled trials biopsies are considered unethical by part of the caregivers.

Secondly, optimal communication is crucial to explain to caregiver and patients what to expect. Expectation management is crucial. Caregivers need to understand about the risks of the biopsy (anaesthesia-related) and the consequences (scarring). Sponsors should also think ahead of time on which information (aggregated and individual) to communicate to the participants and how to inform participants regularly on updates. Clinicians need to communicate to caregivers that generally the pain can be managed well after the biopsy and to seek medical advice in case patients are in moderate or severe pain.

Thirdly, aesthetic aspects of the scars could benefit from more thorough selection of the location of the biopsy and the consultation of cosmetic surgeons in the longer follow-up.

Finally, caregivers and patients are keen that the biopsy is used optimally. Ideally the informed consent should allow to share data with others to do research or additional analysis when the clinical trial-related analyses have been completed.

 


NOTES FOR EDITORS

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 and interview requests:

Visit www.duchenneuk.org

Molly Hunt – Head of Communications, Duchenne UK E: [email protected]