Plea to Doctors from our FOP expert, Dr. Kaplan

December 20, 2003

Dear Doctor:

I urgently need your help. I am the Director of a large worldwide research group that is desperately trying to determine the exact genetic cause of a rare and ghastly genetic disorder that transforms skeletal muscle into bone. The name of the condition is fibrodysplasia (myositis) ossificans progressiva (FOP). Children with FOP look normal at birth except for a characteristic malformation of the great toe. During the first decade of life, affected children begin to develop painful swellings that look like tumors. These swellings seize the skeletal muscles and transform them into bone.

Eventually, ribbons, sheets, and plates of bone replace the body's skeletal muscles, span the joints, lock them in place, and render movement impossible. Any attempt to remove this heterotopic bone leads to catastrophic and explosive episodes of new bone formation. At the present time, there is no effective treatment. Identification of the FOP gene will provide the best chance to design effective treatments and a cure.

Our major obstacle to identifying the gene for FOP is the lack of large mutigenerational families who are affected with the condition. This is easy to understand as FOP is extremely disabling, and most people who have FOP do not have children. To date, we have been able to identify only a small number of multigenerational families worldwide and we have still not found enough families to definitively locate the gene on the human chromosomes.

This is where I need your help. If you know of any parents who have FOP who have passed the condition on to their children, please let me know. It is urgent to identity those families and ask for their help in the genetic research program by providing a blood sample for genetic testing. By locating the FOP gene, we will be able to have the best idea how to treat and prevent this awful problem of progressive heterotopic ossification.

If you are able to locate such multigenerational families, I would greatly appreciate it if you would contact me so that we can work together to solve this intractable problem. Any new mutigenerational families would help in the solution to this problem.

For your information, this letter has been translated to French, German, Italian, Portuguese, Spanish, Swedish, Russian and Ukrainian.

Thank you for your thoughtful and urgent attention to this matter.

Gratefully yours,

Frederick S. Kaplan, M.D.
Isaac & Rose Nassau Professor of
Orthopaedic Molecular Medicine
and Chief, Division of Metabolic Bone Diseases
and Molecular Medicine
Department of Orthopaedic Surgery
Hospital of the University of Pennsylvania
3400 Spruce Street, 2 Silverstein
Philadelphia, PA 19104-4283
215-349-8727/8726, Fax:215-349-5928
Frederick.Kaplan@uphs.upenn.edu
FOP Website:  www.ifopa.org

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