Study of NBAS gene in children with acute liver failure
Research type
Research Study
Full title
Study of NBAS (neuroblastoma amplified sequence) using patient skin fibroblasts
IRAS ID
261151
Contact name
Richard Thompson
Contact email
Sponsor organisation
King's College Hospital NHS Foundation Trust
Duration of Study in the UK
0 years, 6 months, 1 days
Research summary
\n\n\nAcute liver failure is a rare but serious condition in children that often leads to death without curative treatments such as liver transplantation. In about 30% of cases the cause is not found leaving a very difficult dilemma to the family and medical team regarding the best course of treatment. However, studies published in the last 5 years, using a powerful genetic technology called next generation sequencing, has identified new, causative diagnoses. Namely, a gene called NBAS (neuroblastoma amplified sequence) has been highlighted.\n\nThe paediatric hepatology team at King’s College Hospital is a regional referral centre and treat over 3000 children per year with liver conditions. Recently we identified 4 children with acute liver failure to have a possible mutation in the NBAS gene that may be explain why they suffered from liver failure (3 of whom required liver transplantation and all of whom are alive). \n\nThe aim of this project is to determine whether the change in the NBAS gene, indeed, was the cause of acute liver failure in these 4 children. \n\nThe study involves carrying out laboratory tests to assess the function of NBAS gene using their skin cells called fibroblasts. We will be placing the fibroblasts under “stress” (such as applying heat or depriving them of oxygen) and observing their growth in the laboratory. \n\nOnly patients who have given the consent to the Institution’s Paediatric Hepatology Biobank and only fibroblasts that were taken at the time of their illness and are currently stored will be used for the study.\n
REC name
North West - Greater Manchester East Research Ethics Committee
REC reference
20/NW/0115
Date of REC Opinion
9 Apr 2020
REC opinion
Favourable Opinion