Genetics of Primary IGF-1 deficiency and disorders of growth

• Research type

  Research Tissue Bank

• IRAS ID

  318663

• Research summary

  Primary IGF-1 deficiency and disorders of growth tissue bank

• REC name

  East of England - Cambridge East Research Ethics Committee

• REC reference

  22/EE/0171

• Date of REC Opinion

  21 Oct 2022

• REC opinion

  Further Information Favourable Opinion

• Data collection arrangements

  Growth hormone insensitivity (also known as primary IGF-1 deficiency; PIGFD) is a genetic disease resulting from the body not being able to respond to growth hormone (GH), secreted from the pituitary gland in the brain.

  Patients with PIGFD and additional family members (with consent from the participants) are identified from: our own paediatric endocrinology clinic, other specialist centres in the UK, specialist centres outside the UK (EU and occasionally outside the EU) and patients who are already on our database that have been previously referred and undergone diagnostic testing. An age appropriate "Information sheet for patients with PIGFD" and/or an "Information sheet for parents of patients with PIGFD" are given to individuals by the direct care team. On the information sheet is an option to 'opt out' of additional research studies. A clinical proforma outlining the clinical features, results of biochemical testing, height, weight, birth weight, history of any treatment received and the response to treatment is also sent to the lead investigator with the blood sample. Occasionally, a member of the research team will also be visiting the local hospital to collect the additional clinical information, in conjunction with the clinician caring for the patient. The human tissues which will be collected and included in the bank are: DNA, blood (to extract DNA from) and patient's skin fibroblast samples. The samples stored for use in future research is not relevant material i.e. DNA, RNA or cell lines (lymphocytes, from blood samples or fibroblasts from skin biopsies).

• Research programme

  The paediatric endocrinology department at Barts and the Royal London Hospitals has become a recognised referral centre for cases of short stature thought to be due to primary IGF-1 deficiency (PIGFD). As this is a rare disorder and there are few centres with the expertise or willingness to undertake genetic testing, we receive referrals from a many UK, EU and occasionally non-EU centres. Since 2008, we have we have received 128 patient samples (75 from UK centres, 21 from EU centres and 32 from outside the EU). To date, our centre primarily provides a diagnostic service, that is, we screen patients referred to us for mutations in genes that are known to cause PIGFD, therefore providing a definitive diagnosis for patients. However we also propose to study this rare and interesting group of individuals to try and identify new genetic causes of PIGFD. The aims of the study is firstly, to offer a genetic testing referral service for patients with PIGFD. We will screen for mutations in the genes known to cause GHI. This is important to make a definitive diagnosis, for genetic counselling and for consideration of the therapeutic options for the patient with PIGFD. Secondly, in some patients where the diagnosis is uncertain, we will undertake more detailed studies to try and identify potential new genes causing this condition. Functional studies will also be carried out on any new genes that are discovered.

• Storage license

  12199

• RTBTitle

  Primary IGF-1 deficiency and disorders of growth tissue bank

• Establishment organisation

  Queen Mary University of London (QMUL)

• Establishment organisation address

  Centre for Endocrinology,

  1st Floor John Vane Building, William Harvey Research Institute,

  Charterhouse Square, London

  EC1M 6BQ