The MCDS-Therapy team are working to alleviate the pain and bone malformations that patients with the rare genetic skeletal condition MCDS live with on a daily basis. Our project aims to develop a low-cost treatment for metaphyseal chondrodysplasia type schmid (MCDS) by repurposing carbamazepine, a drug that is currently marketed to treat a completely different condition. To do this we have planned a worldwide clinical trial that will launch later in 2018.

MCDS-Therapy is a scientist-led international collaboration of 11 organisations, funded by the European Union to deliver the clinical trial. We are working closely with patients to deliver the treatment and hope to help develop the global community of MCDS patients through our work. Ultimately, we plan to pioneer an academic drug repurposing pathway, capable of delivering a transformative treatment for a rare patient population from bench to bedside, independent of the pharmaceutical industry.

Science of MCDS-Therapy

Metaphyseal chondrodysplasia type Schmid – more easily referred to as MCDS – is a genetic disorder. This means that a mutation, an error in the body’s genetic code, is the underlying cause of the disease. In the case of MCDS, this mutation occurs in a gene that creates a protein known as collagen X – or collagen 10. Collagen is a protein that is used to form the hard structure of bone. This means that to function, it needs to be moved outside of the cells and into the surrounding bony matrix.

In MCDS, errors in the gene for collagen X mean that cells build the protein incorrectly. This causes the protein to get trapped inside the cell. Over time this is very bad for the health of cells that produce a lot of collagen X, like those in the growth plate of bones. These cells ultimately die, hampering the growth of the bones and causing MCDS.

Research has shown that the drug carbamazepine can help these cells remove the damaged collagen X, allowing the bones to grow normally. MCDS-Therapy is fully testing the effect of carbamazepine on patients’ bone malformation, growth and pain in a clinical trial.

MCDS-Therapy project

Our project will run for a five-year period, with the clinical trial at its heart. The trial will launch in mid-2018 with the first patients recruited from the UK. We plan to recruit 40 MCDS patients across the whole trial, from centres in the UK, Australia, France, Belgium, and Italy, all of whom will receive the drug under investigation.

Alongside the clinical trial, the MCDS-Therapy project will work to develop new chemical measures of the disease, called biomarkers, that will help to determine treatment success. We will also investigate the financial cost of MCDS to patients, healthcare providers, and society, as well as its impact on people’s lives. This type of work will help to demonstrate the need for an effective treatment, but also help us to assess the cost-effectiveness of using carbamazepine to treat MCDS. This will help to ensure that any successfully developed treatment will be paid for by healthcare providers, meaning it reaches the patients that need it. We will share our progress with you throughout the project, through this website, social media, and our mailing list, so please do get involved with our work.

10 international partners working
together to fight skeletal dysplasia

MCDS-Therapy comprises an exceptional grouping of partners with the combined clinical, translational, commercialisation, engagement and management skills to deliver a new treatment for MCDS.

MCDS-Therapy exemplifies the quintessential approach of generating critical mass to deliver the outputs of translational rare disease research to solve an unmet medical need.

MCDS-Therapy Project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 754825

Click the hotspots on the map or the logos below to find out more about each of our partners.

1

Newcastle (Coordinating Centre)

Newcastle University (UNEW)

Institute of Genetic Medicine (IGM) // Prof Michael Briggs (Co-ordinator)
Institute of Health and Society (IHS) // Prof Luke Valle (Health Economics) //  Professor James Wason (Biostatics)
Clinical Trials Unit (CTU) // Dr Sonya Carnell (senior Trial Coordinator)

The Newcastle Hospitals NHS Foundation Trust (NUTH)

Northern Genetics Service // Dr Michael Wright (Deputy Coordinator) // Dr Marta Bertoli
Pharmacy Services // Ian Campbell

2

Assistance Publique – Hôpitaux de Paris (AP-HP)
Professor Valerie Cormier-Daire

3

Universitair Ziekenhuis Antwerpen(UZA)
Professor Geert Mortier

4

Murdoch Children’s Research Institute(MCRI)
Professor Ravi Savarirayan

5

Guys and St Thomas’
NHS Foundation Trust of St Thomas’ Hospital(GSTFT)
Dr Melita Irving

6

Istituto Ortopedico Rizzoli
Dr Luca Sangiorgi

7

Università di Bologna

Professor Francesco Paolucci

8

Universitaetsklinikum Freiburg (UKLFR)
PD Dr. Ekkehart Lausch

9

Sciomics GmbH
Dr Ronny Schmidt

10

Findacure Foundation
Dr Rick Thompson

11

Finovatis

Dr David Koubi
Dr Elodie Noel
Maud Le Graet

Patients and families

The MCDS-Therapy project wants to work in partnership with patients to develop a drug that can reduce patient pain, minimise limb bone deformities, and improve quality of life.

We aim to work with patients throughout the process, keeping their needs and ideas at the heart of project design, and sharing our progress with a strengthened MCDS community.

Rare disease community

MCDS is one of 7,000 rare diseases, which collectively affect over 350 million people around the world. The individual rarity of these conditions can make it hard to find appropriate support and care for patients, and difficult to generate interest in the pharmaceutical industry. Patients can face severe isolation, and most do not have a treatment. In fact, only 5% of all rare diseases have a licensed treatment, and those that do exist often cost seven times the price of a treatment for a common condition.

But by working together, we are building a global community that is improving the lives of all rare disease patients. We at MCDS-Therapy are proud to be part of this movement. Our academic-led drug repurposing trial is pioneering a new drug development pathway for similar work to be done in other rare diseases. We hope that by publishing updates on our website and social media, we will inspire other academics, researchers and patient groups to get involved in rare research.

Latest News & Updates

Successful first annual meeting in Bologna!

Representatives of our 11 partners gathered in Bologna for the first annual meeting, 29-30th October. What happens you combine 24 scientists, clinicians, clinical trial officers, charity workers and professional organisers with the finest tagliatelle…

Why are we doing biomarker discovery?

What is a biomarker and why is the MCDS-Therapy team trying to find one? Sciomics, the partner focusing on this part of our work, have written this handy blog to keep you in-the-know. Having a rare disease is challenging for patients…

MCDS presented for the first time

Professor Mike Briggs presented the work behind MCDS-Therapy at Findacure’s Drug Repurposing for Rare Diseases conference. As an academic-led, industry-free drug repurposing project for an ultra-rare disease, the MCDS-Therapy team is keen…