Consultant Rheumatologist Professor Paul Wordsworth, who is lead clinician in the Oxford, UK skeletal dysplasia clinic, says the dearth of meaningful data relating to Melorheostosis – known as Melo for short – means the route to a greater understanding and eventual cure of the disease, is agonisingly slow. Although the gene LEMD3 is associated with the disease, the pathological mechanisms involved are very poorly understood. Translating this knowledge into effective treatment is still a long way off.

“Statistically, the small number of cases we have to work with makes life difficult as we try to combat Melo, because it’s very hard to extrapolate meaningful trends from so few data,” said Professor Wordsworth. “Every new case has the potential to unlock another secret, and as we seek new sources of hope, we continue to do our best with what we have.”

Although there are thought to be around one million sufferers of Melo around the world, fewer than 100 have so far been identified. Of those only a few dozen have so far provided case studies. As a result, the cause, optimum treatment and most efficient pathways to a cure for the disease, remain vexing issues.

It is already known that Melo causes abnormal growth of bone and soft tissue where it’s unwanted, causing joints and bone to become enlarged and deformed. Surgery typically makes it worse.

To help fund research and development by experts such as Professor Wordsworth and his teams, The UK Melorheostosis Association was created last year. The charity has already made significant progress in its crusade to raise £500k.

In Oxford, Professor Wordsworth’s efforts to further develop the Nuffield Orthopaedic Centre as a national source of research and resource for patients with Melo and other extremely rare disorders affecting the skeleton, is already underway.

As well as providing orthopaedic services to the people of Oxfordshire, the Centre also offers a wide range of specialist activities such as bone infection treatment, rheumatology, specialist imaging, complex rehabilitation and orthopaedic engineering. Historically patients have come from all over the UK to benefit from these services.

“Developing the Centre as a national resource for diseases such as Melo is another major step towards greatly improving the quality of advice, treatment and research that can be provided”, added Professor Wordsworth. “It will also provide us with an invaluable opportunity to further our knowledge of these conditions, to expand our research activity and in some conditions to try novel experimental approaches.”

Press Office

Martine Phipps
Address: The UK Melorheostosis Association, National Office, PO Box 167, Harrogate HG1 5WL
Tel: 01423 709993.
E-mail: martine@melo.eu.com