Development of gene therapy for XLP
Research type
Research Study
Full title
Development of gene therapy strategies for X-linked lymphoproliferative disease (XLP)
IRAS ID
131951
Contact name
Claire Booth
Contact email
Sponsor organisation
Great Ormond Street for Children NHS Foundation Trust
Research summary
X-linked lymphoproliferative disease (XLP) is a rare inherited condition. The altered gene responsible has been identified and is linked to the X chromosome so only affects boys. Symptoms can be variable but most patients have abnormal immune responses to some viral infections, lymphoma, recurrent infections and other symptoms related to dysfunction of the immune system. Affected boys become sick in childhood or early adolescence. Presently, we can offer bone marrow transplant as a treatment but the results are variable and depend on a good match for the patient and preferably transplant before they have any symptoms. We have already done some research which suggests that gene therapy could be used to treat patients with XLP and we are now undertaking pre-clinical studies to further investigate this treatment option.
We aim to collect samples of blood, bone marrow and skin biopsies (for fibroblast culture) from patients with XLP at GOSH. Once participants have given informed consent for sampling and storage of tissue, samples will be taken and stored for use in current or future peer-reviewed, approved research studies. The samples will be taken at a time when participants are undergoing clinically indicated blood sampling or a general anaesthetic, so no ‘extra’ procedures will be required to participate in this study. We will also seek consent to use samples already taken from patients and stored at GOSH.
Samples of patients’ cells will be used to investigate whether gene therapy strategies can correct the abnormal function of immune cells seen in this disease and whether this is a safe and viable option.REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
13/LO/1697
Date of REC Opinion
27 Nov 2013
REC opinion
Favourable Opinion