Hematopoietic Stem Cell Gene Therapy for X-linked Agammaglobulinemia

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Grant Award Details

Grant Number:
DISC2-12111
Investigator(s):
Disease Focus:
Human Stem Cell Use:
Award Value:
$219,230
Status:
Closed

Progress Reports

Reporting Period:
Year 1
Reporting Period:
Year 2

Grant Application Details

Application Title:

Hematopoietic Stem Cell Gene Therapy for X-linked Agammaglobulinemia

Public Abstract:
Research Objective

The objectives of this study are to advance a stem cell gene therapy for the immunodeficiency XLA, defining the final therapeutic candidate and showing therapeutic activity in a relevant mouse model.

Impact

XLA can be treated with chronic immunoglobulin replacement, but may be sub-optimal due to infections and inflammatory complications. Stem cell gene therapy may provide a curative one time treatment.

Major Proposed Activities

  • 1. Assess BTK lineage expression and humoral immune reconstitution in BTK/TEK double knock-out mouse model of XLA by BTK gene editing and transplantation to demonstrate disease modifying activity.
  • 2. Compare different BTK transgene expression units for the lineages, levels and lymphocyte function they produce to define optimal candidate.
  • 3. Assess safety of BTK editing by secondary transplants of edited cells into congenic (CD45.1) recipients.
  • 4. Establish draft Target Product Profile.
  • 5. Develop measures of identity, activity and purity.
  • 6. Define therapeutic candidate, based on results of above studies
Statement of Benefit to California:
Regenerative medicine methods using genetically-corrected human stem cells will result in novel, effective therapies for blood cell diseases to improve the health of millions of Californians and tens of millions of people world-wide. Scientific findings and biomedical materials produced will be publicly available to non-profit and academic organizations in California, and any intellectual property developed by this Project will follow the guidelines of CIRM to benefit the State of California.