Lysosomal Storage Disease

Stem Cell Gene Therapy for Cystinosis and Lysosomal Storage Disease

Phase 1/2 Study to Determine Safety and Efficacy of Transplantation w/ Autologous Human CD34+ Cells From Mobilized Peripheral Blood Stem Cells of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS Lentiviral Vector

Phase 1/2


Doctors at the University of California San Diego seek patients 2 months of age and older with cystinosis caused by mutations in the CTNS gene that encodes for the transmembrane lysosomal cystine transporter – cystinosin. Researchers will withdraw stem cells, gene-modify them in the lab to deliver a gene with a normal copy of the CTNS gene, and return them to the patient. It is hoped this will provide the patients with a normal immune system.

Study participants will undergo a blood draw treatment that sorts out specific cells and returns the blood to the patient. After the gene modification in the lab, the cells are infused post chemotherapy and the patient will be closely assessed for 1 month, will follow up required at 42 days, 1 year, 2 years, and up to 15 years.



  • Be 14 years of age or older
  • Have a diagnosis of cystinosis, i.e., early onset of Fanconi syndrome, and history of elevated white blood cell cystine level and/or history of or presence of cystine crystals in the eye
  • Be at least one-year post kidney transplant status, if a recipient of a kidney transplant
  • Be serologically negative for several transmissible diseases


  1. Screening before the treatment.
  2. Leukapheresis procedure to draw blood, remove immune cells, and then return the blood cells to the body.
  3. Researchers will use a virus in the lab to deliver the gene to the immune cells
  4. Patient undergoes a round of chemotherapy.
  5. The gene-modified immune cells will be re-infused to the patient.
  6. The assessment follow-up period will include an initial 2 years of active end-point evaluations, where the subjects will be evaluated at 3-, 6-, 9-, 12-, 18- and 24-months post-transplantation. A long-term follow-up study for a total 15-year follow-up period will be offered to all subjects.


Trials will take place at the University of California San Diego. Map.

Contact: Patient Care Manager  |  1-844-317-7836 (STEM)  |  [email protected]



University of California, San Diego

California Institute for Regenerative Medicine (CIRM)

Cystinosis Research Foundation

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