Dr. Jennifer Simpson, a researcher at the University of California, Irvine, who is working on integrating current nanofabrication technologies with controlled drug delivery strategies in an effort to develop a new, sustained release treatment for corneal cystinosis, will be honored at the upcoming Natalie's Wish fundraiser for the Cystinosis Research Foundation.
The CRF's objective is to improve treatments and develop a cure for the rare, metabolic and fatal disease that afflicts about 500 children and young adults in the United States and 2,000 worldwide.
Dr. Simpson, a clinical professor of ophthalmology at UCI's Gavin Herbert Eye Institute, believes the infused contact lenses can more effectively neutralize painful cystine crystals that accumulate in the eyes and can lead to blindness. Currently, eye drops used by cystinosis patients to treat crystals must be applied hourly and kept refrigerated. Adherence to this regimen is regarded as extremely difficult by patients and doctors. Compliance is low, allowing corneal cystinosis to advance.
The nano drug delivery system developed by Dr. Simpson and her Baylor College of Medicine colleague, Ghanashyam Acharya, Ph.D., can release the drug in a tightly controlled fashion for a few days with a single administration, thus enhancing the drug efficacy and patient compliance. They are confident that this nano drug delivery system can revolutionize the corneal cystinosis treatment and improve the quality of life of children affected by cystinosis.
In patients with cystinosis the amino acid cystine abnormally accumulates in the cells due to a defective cystine transporter. Over time, cystine destroys all organs in the body including the kidneys, muscles, eyes and central nervous system. Other complications include muscle wasting and difficulty swallowing.
The CRF is planning its 11th annual Natalie's Wish fundraiser at the Balboa Bay Resort in Newport Beach, CA. The Natalie's Wish event is expected to draw 400 guests. Last year, the event raised $1.75 million. Since 2003 the CRF has raised more than $20 million, funding 103 studies at leading research institutions in 11 countries. All research is aimed at discovering new treatments and a cure for the disease. One hundred percent of all donations go directly to research. CRF funded research is also helping millions of people worldwide with well-known disorders and diseases such as Huntington's disease and NASH, a fatty liver disease. In addition, research discoveries made by CRF scientists are applicable to other rare lysosomal storage diseases, kidney diseases and corneal diseases.
Dr. Jennifer Simpson also collaborates with CRF funded scientist, Dr. Stephanie Cherqui of University of California, San Diego. Dr. Cherqui has made significant advancements in the potential treatment for cystinosis using stem cell therapy. Dr. Simpson says that Dr. Cherqui's stem-cell therapy, which has reversed the disease in laboratory animals, "provides a quantitative, objective model for studying disease progression, which makes the opportunities offered by new therapies that much more exciting."
The annual CRF fundraiser is named for Natalie Stack, 21, who was diagnosed with cystinosis as an infant. She is a daughter of Geoffrey and Nancy Stack. The Stacks established the CRF in 2003. Because the foundation's administrative costs are privately underwritten, 100% of all donations go directly to cystinosis research.