Mechanisms of adrenal insufficiency

• Research type

  Research Tissue Bank

• IRAS ID

  235765

• Research summary

  Genetics and disease mechanisms of adrenal insufficiency and associated syndromes

• REC name

  Wales REC 4

• REC reference

  22/WA/0133

• Date of REC Opinion

  30 Aug 2022

• REC opinion

  Further Information Favourable Opinion

• Data collection arrangements

  Patients with PAI or associated syndromes and additional family members (with consent from the participants) are identified from: our own endocrinology clinics, other specialist centres in the UK, specialist centres outside the UK (EU and 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 PAI or associated syndromes" and/or an "Information sheet for parents of patients with PAI or associated syndromes" are given to individuals by the direct care team. On the information sheet is an option to 'opt out' of future / further research studies. A clinical questionnaire outlining the patient's 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 and any further samples.
  The human tissues which will be collected and included in the bank are: DNA,RNA, blood (to extract DNA / RNA from),urine, hair, salivia 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 endocrinology department at Queen Mary, University of London School of Medicine and Dentistry has become a recognised referral centre for cases of primary adrenal insufficiency of non-autoimmune aetiology. As this is a rare disorder and there are few centres with the expertise or willingness to undertake genetic testing, we receive referrals from UK, and international centres. Since 1993, we have we have received 425 patient samples / clinical data, 107 from UK centres, 146 from EU centres and 108 from outside the EU, for 64 patients the country of origin is unknown. Our primary aim is to give a genetic diagnosis to the patients to enable the appropriate treatment and genetic counselling to be initiated. This is a two step process, firstly known causative genes are sequenced and secondly if none are found novel causes are identified. The aims of the study is firstly, to offer a genetic testing referral service for patients with PAI. Functional studies are also carried out on any novel mutations in known genes and newly discovered genes.

• Storage license

  12199

• RTBTitle

  Genetics and disease mechanisms of adrenal insufficiency and associated syndromes

• 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