Welcome to the MCDS-Therapy website!

Dr Rick Thompson, Dr Michael Wright and Prof Mike Briggs introduce MCDS-Therapy.

MCDS, or metaphyseal chondrodysplasia type Schmid, is a rare bone disease. It causes short stature, joint misalignment, and curving and flaring of long bones. These symptoms can lead to life-long pain and mobility difficulties.

MCDS-Therapy is an EU-funded clinical trial. We are testing whether a drug can reduce the pain and mobility difficulties MCDS patients face. 11 international partners are working together to organise and deliver the trial.

We hope you enjoy exploring our website and finding out more about MCDS and the trial. If you have any questions, please don’t hesitate to get in touch.

Due to the current COVID-19 global pandemic we have had to make the difficult decision to halt the MCDS-Therapy study for the foreseeable future.

What is MCDS?

MCDS is a rare genetic disorder. This means that an error in the body’s genetic code is the cause of the disease.

In MCDS, the error occurs in a gene which creates a protein called collagen X. Collagen X forms the hard structure of bone, but in MCDS patients, the errors mean it gets trapped in cells. Some of the cells die, reducing the growth of the bones and causing bone malformation.

Our pre-clinical research has shown that a drug could help cells remove the damaged collagen X. MCDS-Therapy is now testing the effect of this medicine on MCDS patients in a clinical trial.

Click here to find out more about MCDS and our pre-clinical research.

What is MCDS-Therapy?

MCDS-Therapy is an EU-funded research project. The aim is to find a treatment for the pain and mobility difficulties MCDS patients experience.

The project will last five years. It will include biomarker discovery, a health economics study, and a clinical trial. We will recruit from the UK, Australia, France, Belgium and Italy into the trial.

Click here to find out more about the research project and its timelines.

We will be sharing our progress on our news page, social media and newsletter – keep an eye on these spaces for updates!

11 international partners working
together to fight skeletal dysplasia

A research consortium is delivering the MCDS-Therapy project.

We are international. The rarity of MCDS means the project is only possible as an international effort. 11 European and Australian partners are working together on the research project. Patients will be recruited into the trial from seven countries.

We are collaborative. Working together, we have the exceptional clinical, analytical, managerial, engagement and commercialisation skills needed to deliver the project.

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.


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


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


Universitair Ziekenhuis Antwerpen (UZA)
Professor Geert Mortier


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


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


Istituto Ortopedico Rizzoli
Dr Luca Sangiorgi


Università di Bologna

Professor Francesco Paolucci


Universitaetsklinikum Freiburg (UKLFR)
PD Dr. Ekkehart Lausch


Sciomics GmbH
Dr Ronny Schmidt


Findacure Foundation
Dr Rick Thompson



Dr David Koubi
Dr Elodie Noel
Maud Le Graet

Patients and families

People living with MCDS are at the heart of our work. Our project aims to develop a therapy which reduces their pain, minimises limb deformities, and improves their quality of life.

We know that patients and their families are the experts in their conditions and that we can learn a lot from their day-to-day experiences. We would therefore like to develop the project in partnership with them. This includes incorporating their needs and ideas into the project design and sharing research updates.

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

[Image description: Photograph of a pair of hands held up. A picture of the globe is painted on the back of them.]

Connecting with other organisations

MCDS is a rare genetic skeletal disease. There are plenty of organisations and networks around the world who patients, families and doctors can get information and support from. There are no other organisations focused on MCDS but the list below…

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…