Research

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Research is a big part of what we are involved in. Scientific knowledge is the stepping stone to understanding this disease.

Cure DM facilitate research in many ways:

* We attend conferences so all the information we share is accurate and correct - and up to date!

* We are on multiple panels and collaborate to publish documents and share info.

* We fund researchers and clinicians directly.

* We take the patients perspective directly to those working on studies and researching this complex condition. We remind them that we are real people, and advocate on behalf of the DM community at every opportunity.

 

It is vital we continue to learn about Myotonic Dystrophy, particularly congenital onset, and how it affects our children and loved ones. We need to make this information common knowledge, and try to find treatments. Congenital DM is the most severe form of DM1, and is very much under represented.

No two people are affected in the same way, no two children present with the same symptoms.

This page will have updates on research.

 

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Congenital and Childhood onset Myotonic Dsystrophy in the UK

We are delighted to share with you our 1st research poster, titled Congenital and Childhood Myotonic Dystrophy in the UK.
 
Presented by Dr Nikoletta Nikolenko this week, at the 14th Annual Neuromuscular Translational Research Conference.
 
Thank you to everyone who answered the questionnaire, your contribution has given us great insight and will be used to support our work going forward. We look forward to producing more posters and sharing more results.
 
If you are in the UK and have DM and would like to take part in the questionnaire, you can find it here:
 

CURE DM - MYOTONIC DYSTROPHY COMMUNITY SURVEY

Please take 2 minutes to complete the following survey, and please share with / complete for every member of your family/community who may be able to help.

CLICK HERE FOR SURVEY!

The results from this survey will show that we have a large and varied Myotonic Dystrophy community in the UK, and we NEED research and studies.

PLEASE support us in showing that DM Research is an area worthy of support.

 

 

 

22 Dec 2020

AMO Pharma Announces Initiation of Pivotal REACH-CDM Clinical Trial for AMO-02 in Treatment of Congenital Myotonic Dystrophy

Exciting update for the AMO-02 REACH-CDM trial, in a time of uncertainty in the world.

CLICK HERE for more information and the full press release

RESEARCH UPDATES

Click HERE to learn more about the UK DM Patent registry and to see the current drug/research pipeline.

Our grateful thanks to Ben Porter of the UK DM Patient Registry for compiling this information and for allowing us to share it.

(Latest update 12/10/2020)

PHENODM1 Natural History study

Newcastle and London have now completed the natural history study in Myotonic Dystrophy type 1. (Adults)

Cure DM were delighted to provide funding towards this trial.

This study is now complete, Thank you to all who took part.

This was an observational study and did 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. It will help treatments being developed in the laboratory and being tested in clinical trials in the future,

Visit the CLINICAL TRIALS GOV page, for more detailed information.

 

IMI-PREFER

Cure DM is delighted to be recognised as an official partner within the Prefer Project consortium.
It is an honour to be recognised for the work we are doing within the NMD sections of the study. Please keep an eye on this page for official updates and information regarding the study.

"PREFER will establish recommendations to support development of guidelines for industry, Regulatory Authorities and HTA bodies on how and when to include patient perspectives on benefits and risks of medicinal products. "  

Click here to read more.

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

CALL FOR PARTICIPANTS

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

PROUD TO FUND OUR 1ST RESEARCH PROJECT!

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:

www.musculardystrophyuk.org/grants/developing-tools-to-identify-effective-treatments-for-myotonic-dystrophy/

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 

RESEARCH UPDATES

AMO Pharma Announces Initiation of Pivotal REACH-CDM Clinical Trial for AMO-02 in Treatment of Congenital Myotonic Dystrophy

Exciting update for the AMO-02 REACH-CDM trial, in a time of uncertainty in the world.

CLICK HERE for more information and the full press release