Grant Award Details
To complete pre-clinical study of cysteamine in the mouse model, manufacture gene-modified HSCs for autologous transplantation in cystinosis patients, and develop and submit an IND to the FDA.
Grant Application Details
- Ex vivo transduced autologous human CD34+ hematopoietic stem cells for treatment of cystinosis
Therapeutic Candidate or Device
Transduced Hematopoietic Stem Cells from Peripheral Blood Stem Cells of adults and pediatric patients with cystinosis
Autologous hematopoietic stem cell gene therapy for patients with cystinosis
Direct transfer of proteins from interstitial macrophages to host cells via long tubular protrusions called tunneling nanotubes, transplantion of autologous HSC modified to express functioning cystinosin as a safer approach to provide long-term protection to the kidney, eye, thyroid and other tissues.
Unmet Medical Need
Standard of Care is cysteamine therapy which has severe side effects. Patients still require kidney transplants, develop hypothyroidism, diabetes, and neuromuscular disorders. Gene-modified HSCs would provide a safe and effective one-time life-long therapy for children and adults with cystinosis.
Complete the pre-clinical studies to support IND.
Major Proposed Activities
- Support and implement a pre-clinical study of cysteamine in the mouse model.
- Develop the CMC for supporting the gene-modified HSCs for autologous transplantation clinical trial for patients with cystinosis.
- Prepare and Submit Documents for Regulatory Approvals
Though patients with cystinosis in California and the United States are rare, the technology to undergo gene-modified HSCs for autologous transplantation is cutting edge research and utilizes the California resources albeit scientist and laboratories of UCSD, UCLA, and other CRO organizations in California. Once this technology is studied in the cystinosis population, the technology can be used in other applications of lysosomal disorders.
- Pediatr Nephrol (2018) Potential use of stem cells as a therapy for cystinosis. (PubMed: 29789935)
- Front Mol Neurosci (2017) Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions. (PubMed: 29089870)
- Sci Transl Med (2017) Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. (PubMed: 29070698)