DMD research

An update on our survey and workshop to discuss the use of re-purposed or off label medicines

Last month Duchenne UK hosted a workshop to discuss the use of re-purposed or off label medicines. We conducted a survey among the community and would like to thank everyone who took the time to participate in the survey. Duchenne UK is currently co-funding a clinical trial looking at Tamoxifen as a treatment for DMD. We will be working with clinicians and regulatory consultants to look at ways of progressing the development of other repurposed medicines.

You can read the report below, or download here. CLICK HERE to view the Survey Results and Analysis.

Repurposing drugs for Duchenne Muscular Dystrophy


A Workshop


Tuesday 15th January 2019

A summary of the data presented and the discussions

Aims of the meeting

This meeting was created with the intention of:

  • Addressing issues and questions related to the use of repurposed drugs in the treatment of Duchenne Muscular Dystrophy.
  • Reviewing the results of a patient/parent survey on which drugs are being used off-label by boys with DMD.
  • Considering alternative approaches to clinical trial design

This document aims to collate key themes relating to the presentations and summarise some key points from the associated discussions.

** It’s important to note that our survey conducted within the community revealed that some parents are giving off-label prescription medicines to their child. These medicines have not been approved for use as treatments for Duchenne Muscular Dystrophy. We strongly advise parents not to buy medicines from the internet and advise parents against sourcing these medicines without seeking advice from your child’s neuromuscular consultant. ** 

SESSION 1: Patient survey to understand how Prescription Medication and Nutraceuticals are currently used by those living with Duchenne in the UK

A review of the data by Emily Crossley, Co-founder and Joint CEO, Duchenne UK

After welcoming everyone to the meeting Emily provided an overview and highlights of the parent survey created and reported by Sejal Thakrar. The aim was to understand more, from parents, about what off-label drugs DMD boys were taking and the extent to which this information was shared with their consultants. 

Below are some of the key findings:

  • We only received back 65 replies which is much lower than previous surveys and was lower than expected. However, when looking at the information requested and the potential insights this would provide, we can see why the number of responses were low.
  • 26% of respondents are taking off-label medicines
  • 65% get these drugs via a private prescription (i.e. not their consultant)
  • Over 50% based dosage decision on published clinical trial protocols and 65% of respondents monitor safety through private blood tests.
  • Many reasons were given for using off-label medications, but these can be summed up in the following quote: “Only option available to help my child right now. Somethings got to be better than nothing!”

The survey then went on to explore the attitudes of disclosing the use of off-label medications to consultants, this provided some very interesting results which formed the basis of much discussion

  • 41% of those taking/giving off-label did not tell their consultant. A further 29% were very selective about which medications they disclosed.
  • The most common reason why parents were not disclosing the off-label taking of medicines is because they are concerned that such disclosure could impact negatively on their chances of taking part in future clinical trials.

SESSION 2: Three speakers gave details on trials relating to specific repurposed drugs:

  • Clinical evidence: Metformin/L-citrulline study and Tamoxifen study - Prof Dirk Fischer, UKBB, Children’s Hospital, Basel.

Prof Fischer reviewed the results to date with Metformin and L-citrulline. The study’s endpoint measurement was the muscle function score. Prof Fischer also reviewed the status of the clinical trial funded by Duchenne UK on the use of tamoxifen. Motor function was, again, the end point measurement. To date, 15 boys have been dosed. The trial is underway so it is not yet possible to see with clarity what the effect is.

  • Clinical evidence: Compassionate use programme and the Israel experience of off-label Tamoxifen prescribing - Dr Talya Dor, Hadassah Medical Organisation, Israel 

Dr Dor is looking at the off-label treatment of 3 boys over a period of 39 months in what’s known as a compassionate use programme. It is important to state that this is not a clinical trial. In addition, she is running a clinical trial with 14 boys over 24 months.

  • Pre-clinical data: Tamoxifen, Simvastatin, Metformin and L-citrulline - Dr Olivier Dorchies, University of Geneva

Dr Dorchies was the first author on the influential paper that has led to the current interest in tamoxifen as a repurposed drug for DMD. He reviewed briefly the mdx data from that paper. He also reviewed in some detail the range of potential mechanisms of action that could be responsible for the positive benefits of tamoxifen, metformin and L-citrulline.


SESSION 3: Panel discussion on current trials and potential repurposed drug use 

Prof. Dirk Fisher, Dr. Talya Dor, Dr. Olivier Dorchies, Prof. Francesco Muntoni and Prof. Volker Straub

The discussion began with some specific questions relating to aspects of the presentations on the current clinical trials. However, the main focus of the discussion moved towards elements of clinical trials. 

  • It was agreed that the rationale for trialling repurposed medicines is clear.
  • Often that the number of patients willing/available to take part in trials is smaller than needed and so becomes a limiting factor.
  • Funding, too, was identified as an issue but it was acknowledged that DUK was playing a significant role in addressing this aspect.

This prompted the question as to how the DMD community could come together and help ensure that boys were available and willing to take part. The feeling was that an element of this is the taking of off-label drugs and the finding that a significant number of parents are not disclosing to their consultant and so can hold back on volunteering for trials which they see as not ‘major game changers’.

Led by Prof Muntoni, the medics on the panel were clear that they need, and indeed want, to know what drugs their patients are taking. One of the outputs from this repurposing meeting should be that we disseminate this view as widely as possible. ‘It’s OK to tell us what your boy is on’!

There was discussion on why such disclosure is not made currently. Whilst several reasons were put forward the one that rose to the top as being the key one (backed up also in the survey data) was that parents are concerned that if they tell consultants what they are giving their boys it will impact negatively on their chance of trials inclusion. 

In rounding up the discussion relating to undisclosed off-label drugs it was agreed that whenever a consultant has the opportunity to speak with parents, they are clear that openness is important. Bit by bit this will make its way around the community. There was also a suggestion that it might help if we developed another survey, with good clinical sponsorship form people like Prof Muntoni, Fischer and Straub, to understand more about which off-label drugs are

being taken, and then using this as an opportunity to speak about the need for open disclosure. Reference to exclusion criteria requiring disclosure is key to improving the chance of trial acceptance.


SESSION 4: Innovative thinking in clinical trials for rare diseases

The meeting then moved on to discuss alternative approaches to performing clinical trials. Two approaches were to be considered.

  • Abby Bronson of PPMD, was due to present concerning The Master Protocol but we were let down by the technology so we were unable to hear from her.
  • Elin Haf Davies then presented her potential approach of a Decentralised Trial. Elin reviewed the elements of how such a trial might be designed and this centred around the fact that patients took part in the trial from their home (or at least from some decentralised point) with the attendance of a clinical trial nurse practitioner.


Final panel discussion

Prof. Francesco Muntoni, Prof. Volker Straub, Dr. Adnan Manzur and Dr Elin Haf Davies

There were two key focus points addressed in the final discussion period. These were: 

  • The need for, and approach to, seeking disclosure of off-label drug taking in relation to boys on clinical trials
  • The potential to use alternative clinical trial protocols/approaches.

Concluding remarks

Emily gave a brief review of the meeting and thanked everyone for their contributions.

Outcomes and next steps:

  • How can we encourage patients to be honest with their consultants about what they may be giving their sons via drugs bought online or through private prescriptions?
  • How to gather robust evidence to determine whether or not these repurposed medicines have any impact on patient outcomes?


THANK YOU to everyone in the DMD community who took part in our survey to better understand how prescription medicines and nutraceuticals are currently used by those living with DMD.

You have provided such valuable information to help us move a step forward in increasing our knowledge in such an important area within Duchenne research.


What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy 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. The charity has been formed by the coming together of Joining Jack and Duchenne Children's Trust, the two biggest funders of DMD research in the UK in the last three years. Its president is HRH The Duchess of Cornwall. Its patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

For more information: visit www.duchenneuk.org or email Molly Hunt, Communications Manager: [email protected]

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 DUCH10 £10 to 70070  

Published on 2 February 2019

Share this article