Recently an episode of a new television documentary was filmed by NHK (Japan Broadcasting Corporation (Nippon Hōsō Kyōkai)) in the rooms of Dr Hofmeyr in Pretoria. They conducted an interview with Mr. Timothy Dreyer, a patient with sclerosteosis, while Dr H Hamersma was present.
Dr H Hamersma, now retired, is one of the world experts on sclerosteosis, a form of marble bone disease. Sclerosteosis is a rare genetic disease characterized by the formation of excessive and very hard, abnormally dense bone. It is characterized by the lack of sclerostin, an important protein that helps to control and prevent the abnormal overgrowth of bone.
NHK is filming a series of programs that explore the latest scientific research on the human body. Included in the documentary is an episode that will cover development and function of bone in our bodies. This episode will also touch on what happens if bone development goes wrong, and elaborates on sclerosteosis, osteoporosis, and the research thereof. Research of sclerosteosis is particularly interesting as a possible cure for osteoporosis may be found.
Osteoporosis is a condition of weak bone which may lead to fractures in patients. It is more common in elderly patients, where osteoporosis occurs in an estimate of 70% of people above 80 years. It affects up to 38% of all females in the developed world!
The link between sclerosteosis and osteoporosis is an interesting one. In the one condition there is “too much bone” and in the other “not enough bone”. The lack of sclerostin in sclerosteosis, causing “too much bone,” may be the answer to treating the “not enough bone” in osteoporosis. It is this concept that has led to the discovery of Romosozumab (Evenity as marketed by Amgen and UCB) which aims to treat osteoporosis by blocking sclerostin in people. By blocking sclerostin with the antibody Romosozumab a “pseudo” sclerosteosis state is created in osteoporotic patients, exactly what is needed to treat osteoporosis.
Currently Romosozumab is under its final stages of investigation before being released on the market.
Recently Mr. Theuns Botha pushed for research into a treatment for sclerosteosis (for his son and all the other sclerosteosis patients) and approached Timothy with a proposal. Mr. Dreyer then initiated the research as his PhD project at University of Pretoria under supervision of Prof. Vinny Naidoo. The research is well underway and is being conducted at the UCB Celltech laboratories in the UK, where UCB scientists are assisting Timothy with the project (UCB made their laboratories and materials freely available for the initial stage of the research).
However, the research still has a long way to go and funding remains a concern. To this end Mr. Botha established the Rare Bone Disease Foundation (see link below) to raise the necessary funds to sustain the project and to provide a platform for sharing information with the community. The foundation also aims to raise awareness of sclerosteosis and patients affected by it.
It is in the light of this that I ask that anyone that wants to support a just cause, support the Rare Bone Disease Foundation or the research of Mr. Timothy Dreyer in the UK.
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Links
Mr Timothy Dreyer and research on Sclerosteosis – timothyjdreyer@gmail.com
Rare Bone Disease Foundation
