Full Study Name

Renal – Investigation of the genetic basis of renal tract abnormalities (Main Stage)

Local Principal Investigator

Professor William Newman

Study Status


Main Aims

Renal tract abnormalities are differences in how the kidneys, bladder, ureters (the tubes between the kidneys and the bladder) and urethra (tube between the bladder and outside the body) have been formed, and work. In some people with these problems there are changes in the muscles of the abdomen.  We know that small inherited changes in an individual’s genes can cause these types of problems in some families. Our genes are instructions found in every cell in our body that control how we grow and develop.

This study aims to find out more about which genes cause renal tract problems and how we can use this information to help patients in the future.

Inclusion Criteria
  • Individuals and family members of individuals affected/ suspected of being affected by Urofacial syndrome (UFS).
  • Additionally, individuals with more common renal tract abnormalities that have overlap with those seen in UFS will be recruited.
  • In a separate arm to the study, we are also recruiting children with bladder exstrophy or exomphalos/ omphalocele
Exclusion Criteria

Those individuals not matching the above inclusion criteria.

Open Sites

Lead Site: St Marys Hospital, Manchester. Birmingham Children’s Hospital, Royal Devon and Exeter Hospital, Nottingham University Hospitals, Sheffield Children’s NHS Foundation Trust

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