FDA Approved Clinical Trial For Patients With Cystinosis

CRF Announces Food & Drug Administration (FDA) Approval for Human Clinical Trials for Stem Cell and Gene Therapy Treatment for Cystinosis.

This approval from the FDA brings us closer than ever to what we believe will be a cure for cystinosis and to answering Natalie’s wish and the wish of all adults and children with cystinosis, “to have my disease go away forever.” 

CRF has funded over $4.3 million in grants to Stéphanie Cherqui, PhD, for her pioneering work in stem cell and gene therapy for cystinosis.  Since 2006, when CRF began funding Dr. Cherqui she has worked diligently every day to unravel the mysteries of cystinosis and to find a treatment that might cure the disease.  

“This discovery opened new perspectives in regenerative medicine and in the application to other genetic disorders.  Our findings may deliver a completely new paradigm for the treatment of a wide assortment of diseases including kidney and other genetic disorders.  If so, CRF, through their years of support will have helped an untold number of patients with untreatable, debilitating diseases.”

She has dedicated her career to our community and we are forever grateful to her for her drive and commitment to CRF.  She never gave up, she has embraced our community and together, as partners, we can celebrate this historic moment.

Volunteers

The phase I / II human clinical trials will be held at UC San Diego Health in San Diego, CA. The recruitment individuals must be 18 years or older and meet specific eligibility requirements to participate. The subsequent phases of the clinical trials may include children, however, timing and approvals of this have yet to be determined. The trials are available to individuals worldwide, though priority will be given to U.S. patients.

The following criteria must be met to participate in this study:

1. Male or female who are 18 years and older of age.
2. Diagnosed with 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.
3. Must be at least one-year post kidney transplant status.
4. Must have adequate blood, thyroid, kidney and liver functions.
5. Must be willing to use highly effective contraception whether male or female.
6. Must be willing to comply with the study restrictions and requirements.
7. Must be willing to discontinue cysteamine therapy (oral and/or eye drop) for various periods of
   time while on study.
8. Must have a family or friend caretaker available at all times during the study.

Clinical Trial Inclusion and Exclusion Criteria is available via PDF   
If you are an adult with cystinosis and are interested in participating in the trial or would like more information please email Laura Hernandez, ldhernandez@health.ucsd.edu or call Laura at
858-822-3747.