POD study

• Research type

  Research Study

• Full title

  Phenotyping of rare genetic overgrowth disorders

• IRAS ID

  161520

• Contact name

  Alison Foster

• Contact email

  alison.foster@bwnft.nhs.uk

• Sponsor organisation

  University of Birmingham

• Duration of Study in the UK

  3 years, 8 months, 28 days

• Research summary

  Overgrowth disorders are a group of rare genetic conditions that cause children to be larger than others of the same age. They are associated with a wide spectrum of medical problems, including learning disability, congenital abnormalities, and in some cases an increased risk of developing tumours. Overgrowth disorders are genetic, either inherited from a parent or occurring for the first time in a child, and lifelong.

  The medical complications, prognosis and recurrence risks for an individual with overgrowth are determined by the underlying cause, and achieving a diagnosis enables optimal care to be provided. In recent years a number of novel genes have been identified, but the clinical course of these conditions is not yet known and access to genetic testing is limited. Even in individuals with a diagnosis of a relatively well known condition, the clinical features can differ from expected, suggesting the existence of genetic modifying factors. There are also many individuals who do not have a clinical or molecular diagnosis, indicating that there are other novel causes of overgrowth yet to be discovered.

  This project will study many individuals with overgrowth disorders. Data including history and examination, complications, laboratory investigations, imaging, clinical photography and molecular genetic data will be recorded in detail and held on an access controlled secure public database managed by the NIHR Rare Diseases Translational Research Collaboration.

  The aim of this study is to
  a) understand the clinical course of overgrowth disorders
  b) investigate the underlying genetic causes of overgrowth
  c) study the associations between genetic causes and clinical features in individuals with overgrowth

  Understanding the genetic basis of these disorders may also help identify molecular genetic targets for potential future therapeutic interventions.

• REC name

  Yorkshire & The Humber - Leeds East Research Ethics Committee

• REC reference

  15/YH/0252

• Date of REC Opinion

  3 Jul 2015

• REC opinion

  Further Information Favourable Opinion