Allogeneic HSCT in CCALD
Research type
Research Study
Full title
A Prospective and Partially Retrospective Study to Characterize Safety and Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Childhood Cerebral Adrenoleukodystrophy.
IRAS ID
166546
Contact name
Robert Chiesa
Contact email
Sponsor organisation
Bluebirdbio Inc
Duration of Study in the UK
4 years, 0 months, 5 days
Research summary
This is a research study in patients with childhood cerebral adrenoleukodystophy (CCALD) which is caused by a malfunctioning gene called the ABCD1 gene, responsible for producing a protein called adrenoleukodystophy protein (ALDP). Genes, which we inherit from our parents, are pieces of information that provide the blueprints for the proteins that keep our cells and bodies alive. Boys with CCALD either do not have this protein or have a protein that does not work well and this malfunction leads to the buildup of very long chain fatty acids (VLCFAs) in the body, particularly in the brain and this causes severe damage to brain cells.
In order to prevent worsening of CCALD, affected boys can receive stem cells from a related or unrelated individual who does not carry the malfunctioning ABCD1 gene. These healthy cells replace the cells that originally carried the malfunctioning gene and allow the production of new cells to eventually replace the diseased cells in the brain. This procedure, called allogeneic hematopoietic stem cell transplant (HSCT) or "bone marrow transplant" is currently the only effective therapy for CCALD.
The study is designed to collect information about CCALD, the transplant experience of its participants and the outcomes after the HSCT procedure; it will not involve additional treatments for the disease.
Centres identified as having expertise in allo-HSCT for CCALD with specialists in paediatric transplant medicine and paediatric neurologists or other appropriately trained and qualified physicians, and appropriate patient populations in the US, Canada, EU including UK, will be asked to participate.
Study participants will have data collected after having allo-HSCT and for a period of 24 months afterwards (prospective) or will be entered into the study retrospectively, ie, having undergone allo-HSCT up to 12 months before study activation until their 24 month visit after allo-HSC infusion.REC name
West of Scotland REC 1
REC reference
15/WS/0006
Date of REC Opinion
8 Jan 2015
REC opinion
Unfavourable Opinion