Welcome to the MCDS-Therapy website!

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

Who we are

MCDS-Therapy is an EU-funded project. The MCDS-Therapy consortium is comprised of 11 international partners, who are working to develop the first therapy for the ultra-rare bone disease, metaphyseal chondrodysplasia type Schmid (MCDS).

We are running a clinical trial as part of the project to test whether the drug carbamazepine can be repurposed to treat MCDS patients. We are proving that carbamazepine is not only safe to use, but is also effective in reducing the pain and mobility difficulties experienced by MCDS patients.

Explore our website to learn more about the science behind MCDS-Therapy and subscribe to our newsletter to stay informed about our project and clinical trial. If you have any questions, please don’t hesitate to get in touch.

Watch our welcome video!

Our international sites are opening for recruitment soon!

Find out more

What is MCDS?

MCDS, or metaphyseal chondrodysplasia type Schmid, is an ultra-rare inherited bone disease.

This rare condition results in:

  • Short stature with disproportionately short arms and legs (Short-limbed dwarfism)
  • Ends of long bones and ribs flaring outward
  • Curvature or bowing of the leg bones (Genu varum)
  • Hip deformities causing the thigh bone to be angled towards the centre of the body (Coxa vara)

The characteristics listed above can result in an impaired gait, which can make walking difficult. Pain in the legs and joints tends to be experienced throughout a patient’s lifetime. Visit our Science behind MCDS-Therapy page to learn more about this rare bone disease.

Drug Repurposing & MCDS

The MCDS-Therapy consortium has turned to drug repurposing in the hopes of finding a new treatment for metaphyseal chondrodysplasia type Schmid, or MCDS. We have identified the drug, carbamazepine, as a potential treatment for MCDS, which was originally used to treat epilepsy and bipolar disorder in the 1960s.

What is drug repurposing?

Drug repurposing, or drug repositioning, is the process of finding new uses for old or existing drugs. Researchers take a drug that’s already been approved to treat one patient population and investigate via clinical trials if it can be an effective and safe treatment for another condition entirely. Drug repurposing is a lot like recycling and has become the cheaper and faster way to bring treatments to market, especially for those living with rare and ultra-rare diseases.

Visit our how drug repurposing relates to MCDS-Therapy page to learn more.

11 international partners working
together to fight skeletal dysplasia

Our MCDS-Therapy consortium spans the width of the globe!

The rarity of MCDS means that our project and clinical trial were only possible with an international effort. We are proud to say that 11 European and Australian partners are currently working on this research project. MCDS patients will be recruited into the trial from seven countries!

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

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

 
Murdoch Children’s Research Institute logo
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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

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

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Universitair Ziekenhuis Antwerpen (UZA)
Professor Geert Mortier

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

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

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Istituto Ortopedico Rizzoli
 Dr Luca Sangiorgi

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Università di Bologna

Professor Francesco Paolucci

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Universitaetsklinikum Freiburg (UKLFR)
PD Dr. Ekkehart Lausch

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Sciomics GmbH
 Dr Ronny Schmidt

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Findacure Foundation
 Dr Rick Thompson

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Finovatis

Dr David Koubi
Dr Elodie Noel
Maud Le Graet

Patients and families

MCDS patients and their families are at the heart of our work. Our clinical trial and project aim to develop a therapy, which reduces the pain and limb deformities that MCDS patients continue to face. The goal is to improve the quality of life of all those living with MCDS.

We believe the patients and their families are the experts in their rare disease. As researchers and clinicians, we can learn a lot from their day-to-day experiences and challenges. It has been our desire to develop our clinical trial and project alongside them. We are achieving this by incorporating the needs and preferences of patients and their families into our clinical trial design and outreach.

If you weren’t able to participate in our clinical trial due to location or eligibility, subscribe to our Skeletal Dysplasia Community Newsletter. We’ll inform you of the latest updates and opportunities for you to engage in upcoming projects or research. We look forward to helping more patients and their families get involved in meaningful advocacy work.

Rare disease community

MCDS is one of 7,000 rare diseases, which collectively affect over 350 million people worldwide. The individual rarity of these conditions can make it hard for patients to not feel isolated and find appropriate support and care. It can be even harder for researchers, clinicians and patient groups to generate interest in rare disease within the pharmaceutical industry.

Sadly, most rare diseases do not have treatment. In fact, only 5% of all rare diseases have a licensed therapy. The treatments that do exist often cost seven times the price of those designed for a common condition. We are doing something about it!

By working together, we are building a global community that is improving the lives of all rare disease patients. 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 that we will inspire other academics, researchers and patient groups to get involved in rare research.

Latest news

If you want to tell your story about living with a rare bone condition, please email Blayne at to discuss sharing your story on our blog. Telling your story will help so many others who are living with a rare bone disease just like you who don’t want to feel alone. Your voice can help!

Biomarker development for MCDS

We're recruiting at four clinical trial sites!