Queen Square Centre for Neuromuscular Diseases


The International IBMConsortium Genetic Study

SponsorUniversity College London (UCL)
CIProfessor Michael Hanna
SitesLondon Queen Square, Newcastle
Contact detailsp.machado@ucl.ac.uk


The primary pathogenesis of IBM is not known. Many of the aggregated proteins in the muscle tissue may be involved in neurodegeneration.

The vast majority of IBM is sporadic but genetic factors could also be important. These include:

· the compact age at onset,

· insidious progression,

· clinical and pathological features,

· infrequent occurrence in twins, siblings and families.

Several genes have been identified in families with IBM phenotypes but these are rare. Further investigation of the pathogenesis of IBM requires a genomic approach on large numbers of defined cases.

Study information

We will establish an international collaboration: the International IBM Consortium Genetic Study (IIBMCGS).

Primary objective

To collect DNA and detailed clinical information from IBM patient.

The number of IBM cases worldwide is not large enough for an effective genome wide association study (GWAS). We will use next generation exome sequencing to identify disease associated genes in IBM. This technique has been used effectively in the identification of mutations in type I diabetes and autism.


200 IBM cases and 200 normal muscle controls.

We plan to repeat these findings in a further 700 IBM cases and 2200 controls. The anonymised data will be available in the public domain. It will allow comparison with other muscle disorders and neurodegenerative conditions.