Toward a Cure for Gaucher Disease Type 1: Autologous Transplantation of Genome Edited Hematopoietic Stem Cells

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Grant Application Details

Application Title:

Toward a Cure for Gaucher Disease Type 1: Autologous Transplantation of Genome Edited Hematopoietic Stem Cells

Public Abstract:
Translational Candidate

Autologous blood stem cells edited to restore glucocerebrosidase expression

Area of Impact

Gaucher disease type 1 (non-neuronopathic)

Mechanism of Action

To treat Gaucher disease, autologous blood stem cells undergo genome editing to restore the deficient enzyme. Reintroducing these edited cells replaces the patient's bone marrow, establishing a lasting enzyme reservoir. The bone marrow produces enzyme-secreting cells, replaces disease macrophages, and generates cells that migrate to affected organs, locally delivering the enzyme and mitigating the disease's visceral and skeletal manifestations.

Unmet Medical Need

Gaucher disease presents in three primary clinical forms, namely types 1 (GD1), 2 (GD2), and 3 (GD3). Current treatments for GD1 require life-long administration, do not eliminate all symptoms, and lower the quality of life due to financial and logistical burdens. Unfortunately, there are no treatments available for GD2 or GD3. gtCCR5-GBA could offer a definitive treatment for all manifestations of GD1 and could also be a promising strategy for GD2 and 3.

Project Objective

Pre-IND meeting with the FDA

Major Proposed Activities

  • Establish a GMP-compatible process for patient-scale manufacturing runs and develop the necessary analytical assays to characterize the product
  • Re-demonstrate efficacy with a GLP-certified study
  • Prepare for and conduct a pre-IND meeting with the FDA
Statement of Benefit to California:
Gaucher type 1 (GD1) is a rare multisystemic genetic disorder for which a cure may be possible. As a populous state, California deals with a significant GD1 patient population. Autologous transplantation using genome-edited cells offers a once-and-done therapy for GD1, providing a unique opportunity for researchers and patients in California to establish a definitive treatment. This approach can reduce long-term healthcare costs and improve the patient's quality of life.