Allogeneic HSCT in CCALD
Research type
Research Study
Full title
A Prospective and Retrospective Data collection study to evaluate outcomes 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
3 years, 7 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 particular protein (ALDP). 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.
To prevent worsening of CCALD, affected boys can receive stem cells (within a bone marrow transplant) from a related or unrelated individual who does not carry the malfunctioning ABCD1 gene. These healthy cells replace the 'diseased' cells and allow the production of new healthy cells in the brain. This procedure, called allogeneic hematopoietic stem cell transplant (allo-HSCT) or "bone marrow transplant" is currently the only effective therapy for CCALD.
Standard of care involves:
Blood tests, brain MRI, neurological exam & tests, checking for adverse events, medications and transplant experience.This study will collect:
Quality of life surveys, health economic information, IQ measuring tests and additional blood samples as well as one brain MRI scan 6 months after the transplant. The results from the standard of care procedures will also be collected for the study.The Study 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 EU, US, and Canada 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 2 years before providing consent/assent until their 24 month visit after allo-HSC infusion.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
15/LO/0785
Date of REC Opinion
28 May 2015
REC opinion
Favourable Opinion