Rare Bone Diseases
Our rheumatology service looks after a number of different rare
bone diseases. This includes Osteogenesis imperfecta (OI),
X-linked hypophosphataemia (XLH) and Fibrous dysplasia amongst
others. Bristol is one of five UK centres that have been able to
use burosumab for adults with XLH (this early access program has
now closed).
The service is led by Dr Matt Roy, Consultant Rheumatologist,
and supported by Mr Ronu Roy, Osteoporosis and rare bone clinical
nurse specialist. In due course, we hope to develop a wider
multidisciplinary team approach to support the management of this
patient group.
We receive referrals from across the whole South-West and are
happy to provide input for adults with rare bone conditions. We
have access to DXA, blood test investigations including bone
turnover markers and genetic testing.
We also look after young adults with rare bone conditions and
take over their care as they move from paediatric to adult
services. As part of this we attend a paediatric transition
osteogenesis imperfecta clinic twice a year at Bristol Children's
Hospital so we can meet these young people before they move under
our care.
We have wider connections with the rare bone disease
community. Dr Matt Roy joins the Southern rare bone MDT once
a month where complex cases are discussed on a regional
basis. He also supports rare bone disease charities and most
recently presented at the XLH UK family day in Bristol.
A national rare disease collaborative network for rare bone
diseases has been recently approved by NHS England. We hope
to be part of this network here in Bristol. In recent years, we
have taken part in a number of rare bone clinical research studies
including the ASTEROID study, using setrusumab in patients with
osteogenesis imperfecta, and the TOPAZ study, exploring the use of
teriparatide in OI.
Information for patients and healthcare professionals:
Information on XLH https://xlhuk.org/
Information on Osteogenesis Imperfecta https://www.brittlebone.org/
Information on Fibrous Dysplasia https://www.fdssuk.org.uk/
