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.”
Dr. Cherqui 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.
The upcoming phase I / II human clinical trials will be held at UC San Diego Health in San Diego, CA. The recruitment period is anticipated to begin this winter. 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:
- Male or female who are 18 years and older of age.
- 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.
- Must be at least one-year post kidney transplant status.
- Must have adequate blood, thyroid, kidney and liver functions.
- Must be willing to use highly effective contraception whether male or female.
- Must be willing to comply with the study restrictions and requirements.
- Must be willing to discontinue cysteamine therapy (oral and/or eye drop) for various periods of
time while on study.
- Must have a family or friend caretaker available at all times during the study.
The complete Clinical Trial Inclusion and Exclusion Criteria are available via PDF Additional information will be posted in the next two to four weeks, or when it becomes available.
For Patients who are interested in participating or have questions please call this Toll Free Number 844-317-7836 (STEM) or email firstname.lastname@example.org
Dr. Paul Goodyer, McGill University Children’s Hospital
Dear Cystinosis Patients and Families:
We would like to inform you about a new study conducted by Dr. Paul Goodyer at McGill University Children’s hospital in Montreal. Dr. Goodyer is conduction a research study to better understand the spectrum of genetic mutations that lead to cystinosis (Cystinosis Nonsense Mutation Screen-CyNoMuS). He is seeking volunteers who would like to know whether or not they carry a CTNS nonsense mutation.
If you are interested and want to learn more about the study, please read the PDF flyer and contact them by phone at (514) 412-4400 ext. 22953 or by email to Murielle M. Akpa, PhD, email@example.com
The following studies are being funded by the CRF to advance knowledge in key areas of cystinosis treatment. Click the following links to see the full information for each study.
Volunteers Needed for a Research Study of Bone Health and Muscle Strength – Children and adults with cystinosis are at risk for musculoskeletal disease. This research study, performed by Dr. Mary Leonard and Dr. Paul Grimm, will be the first comprehensive evaluation of bone structure and muscle strength in children and adults with cystinosis.
Research Study of Bone Marrow Transplant for Cystinosis Patients from Matched Related Donor – The clinical research study is being conducted at the Ronald Reagan UCLA Medical Center.