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Research is a big part of what we want to be involved in. Scientific knowledge is the stepping stone to understanding this disease. There is little research in the UK for Myotonic Dystrophy when compared to other rare diseases, although in the last couple of years this has increased. There is some research in the USA and around the world, mostly learning about the disease and how it affects the body.

We want to know more about Congenital DM, and how it affects our children, and try to find treatments for symptoms. Congenital DM is the most severe form of DM1, and although there is little current research for CDM in its own right, we want to help support any upcoming research which may be relevant to our cause.

No 2 people are affected in the same way, no 2 children present with the same symptoms. At the moment, we don't really know why - this is something our fund could help investigate through research programmes.

This page will have updates on research.



‘An inheritance study – Myotonic Dystrophy and Autism Spectrum Disorder’


A new research study from Loughborough University is keen to make contact with family members affected by myotonic dystrophy who also have a diagnosis of Autism Spectrum Disorder.

The purpose of this study is to make an artwork (a short film) that looks at the experiences of young people aged between 16 and 35 years who have both conditions, something that is increasingly seen to be common in families. We would like to conduct interviews on film, to record the voices, faces and experiences of individuals who have these conditions, and also the experiences of one or both of their parents. These interviews may then be used in a film, and a book, that can then be shown to medical professionals and scientists to help them see their patients/ research subjects as real people, and to the wider public to raise awareness of the condition(s).

Who is doing this research and why?

The main researcher is Dr Jacqueline Donachie. Jackie is an artist whose family has the conditions, and she wants to present a visual picture of inheritance that does not specifically confine itself to clinical symptoms.  She has made other works from a similar interview process that looked at the experience of sisters, where one had DM and one did not. She is currently a Research Fellow at Loughborough University.

Who can participate?

To take part in the interviews you need to be:


 Based in the UK

Aged between 16 and 35

Have a diagnosis of both myotonic dystrophy and autism spectrum disorder

 Have one or both parents also available to interview



For further information, or to note interest in taking part, please contact

Dr Jacqueline Donachie

Doctoral Prize Fellow

School of the Arts, English and Drama

Loughborough University

Epinal Way

Loughborough LE11 3TU

Email: J.J.Donachie@lboro.ac.uk

Phone: 07399381687


In this project Professor Brook and his team at the University of Nottingham are developing two state-of-the-art techniques to study what happens to the faulty RNA in myotonic dystrophy after treatment with potential therapies. This could help to identify effective potential treatments that target the underlying molecular causes of myotonic dystrophy.

Follow this link for more information on the project:


100% funded by The Fight Fund!

Drug trial to treat Congenital and Juvenile onset Myotonic Dystrophy - RECRUITING NOW!

The study is recruiting participants from the UK who are between the ages of 16 and 45 and have congenital or juvenile-onset myotonic dystrophy type 1 i.e. experienced symptoms before the age of 12.

More information can be found on clinicaltrials.gov.

We are OVER THE MOON to announce the FIRST drug trial for adults with Congenital/juvenile DM.

It is taking place at the John Walton Muscular Dystrophy Research Centre in Newcastle, UK, and is sponsored by the pharmaceutical company Amo Pharma.

The purpose of this study is to investigate the safety of a drug called tideglusib (AMO-02). Tideglusib inhibits an enzyme called glycogen synthase kinase 3ß (GSK3ß), which is over-active in people with myotonic dystrophy type 1. Preclinical research has shown that inhibiting GSK3ß can increase muscle strength and decrease myotonia.

In addition to safety, the study will also investigate the efficacy (i.e. potential benefits) and the pharmacokinetics (blood levels across time) of tideglusib.

The study is recruiting participants from the UK who are between the ages of 16 and 45 and have congenital or juvenile-onset myotonic dystrophy type 1 i.e. experienced symptoms before the age of 12. Participants must also be able to walk independently and meet a number of other criteria;

If you are interested in taking part in the trial, please get in touch with the trial sub-investigators: Dr. Nikoletta Nikolenko on 07870 517410 or email: Nikoletta.nikolenko@newcastle.ac.uk or Dr. Tiago Gomes on 0191 241 8989 or email: Tiago.Gomes@ncl.ac.uk 

PHENODM1 Natural History study - currently recruiting.

Researchers in Newcastle and London have opened recruitment for a new natural history study in Myotonic Dystrophy type 1. (Adults)

Even though this is not a study aimed at our Congenital Children - this is very valid research which will benefit our familes and loved ones. All knowledge on this disorder can be used against it,knowledge is power, and hopefully this study will enable our scientists to find a way to treat, and one day cure our loved ones.

This study is recruiting NOW, so if you feel you, or someone you know could help, please do make contact. Without YOUR help we will not be able to gather this information. Our community is the only ones who can help.

This is an observational study and does not involve the trial of any treatment or therapy. This study is important for doctors and researchers to understand as much as possible about Myotonic Dystrophy type 1 and how it affects people in different ways, this will help treatments being developed in the laboratory and be tested in clinical trials in the future.

You can read more on the Muscular Dystrophy UK Page.


Alternatively, visit the CLINICAL TRIALS GOV page, for more detailed information.

Please do help, if you can. Our very own Sian is taking part, if you would like to talk about it, please message her on: sian@cmmd.uk



Congenital Myotonic Dystrophy research - Utah USA

Our very own Joshy is taking part in this research programme in Utah USA.

You can see the article, and the video HERE!

Dr Johnson in Utah is heading a Clinical Research programme, which is observing and tracking the progression of the symptoms in Children with CDM, to try and understand how the disorder progresses.

Josh has had his three trips to Utah, and is hoping to be part of the next stage in research once it gains approval. Hopefully, by the time all the information is gathered and processed, Josh could be one of the first children to be enrolled onto a drug trial.

Obviously its all very complicated, and this research is being done in the USA. The Fight Fund is hoping that with our links, connections and with the support from you and MDUK, we may be able to make a difference. Our fundraising aims for the UK will hopefully enable our scientists to work alongside Utah and other researchers across the globe, and bring any breakthroughs over to our kids here.

We must remember, we DO have people wanting to work together, but it comes down to funding. We CAN make a difference with our Fight Fund - raising awareness and funds, and showing that we do have a need in the UK. This is a worldwide disorder, so all research is valid.

Our goal is to make sure that the UK doesn't miss out on any life-changing treatments and one day, cures. MDUK currently have scientists from all over the world working together, and with the determination we have, we can be part of this!


Potential research is identified! - update

Research Grant application - turned down.

We were excited to say that, with support and help from MDUK, there has been a research programme identified, which is for Congenital and childhood onset Myotonic Dystrophy.

The 'Fight Fund' put an application together for the 'Jeans for Genes' charity, for a grant to enable the research. Unfortunately due to the large number of applicants, we were turned down in this instance.

We won't let it put us off though - we will continue to spread awareness and apply for grants such as this - because one day we WILL be successful!

So, what can you do? .

We can help our future applications, and the researchers, if we can provide some information on families with the gene, hopefully getting an idea on how many people are affected. Even if its just a number.

You could email us at: admin@cmmd.uk, in strictest confidence. We would love to hear from you.

A collaboration with MDUK!

Funding research into Myotonic Dystrophy.

Our meeting on the 5th August 2015 was a great success. We were made to feel very welcome by the team at MDUK headquarters in London, and even fed biscuits and tea!!

We had a wonderful meeting, and all put forward our own ideas and how we would like to move forward. It turned out we are all on the same page, and the outcome is the birth of our very own CONGETINTAL MYOTONIC DYSTROPHY FIGHT FUND, along with a plan on how to raise awareness and support, both to the families affected by CMMD, and the professionals involved.

We were shown some presentations on potential research, and how we could help. Very exciting.

Its all go....watch this space for more updates!


5th August 2015

Off to London to the MDUK head office!!!

We are excited to be meeting with the MDUK (Muscular Dystrophy UK) on 5th August 2015 to discuss the way forward. It is very exciting to be welcomed by the MDUK with our plans and ideas, and we are looking forward to discussing our plans and making that first step towards raising funds and supporting research! Watch this space!