There is no cure for CLN2 disease. But thanks to genetic scientists, neurosurgeons and nurses at CHOC, there is hope for delaying progression of the disease. The therapy, Brineura, is a medication that treats the brain via a port under the scalp with a synthetic form of the missing enzyme. CLN2 patients come to CHOC every two weeks for the four-hour infusion to keep the drug working effectively.
September is Newborn Screening Awareness Month, and Dr. Jose Abdenur, director of CHOC’s metabolic laboratory, stresses the importance of newborn screenings.
Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA.
An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disorder, Pompe Disease.
CHOC recently celebrated the second anniversary of the first Brineura infusion, a novel treatment for CLN2 disease, or late infantile Batten disease.
Bringing new hope to patients and their families, CHOC is now among a few hospitals in the country to offer treatment for Late Infantile Batten disease.
CHOC Metabolic Disorders Division specializes in diagnosing rare conditions that require hours of unraveling symptoms.