Lysosomal Storage Disorder, or LSD, is a catch-all term for more than 45 inherited metabolic disorders that result in the build-up of various toxins in the patient’s cells.
Currently, there is treatment that replaces the missing enzyme for six LSDs, but for the vast majority of patients, effective treatment isn’t available. About one in 5,000 live births results in a diagnosis of an LSD.
Studies have determined these metabolic disorders are the result of a faulty gene that is deficient of a certain enzyme, or the enzyme is missing entirely. This causes the body’s chemistry to be thrown off. Organ damage is frequently the outcome, and some patients do not survive.
If you are interested in participating in a clinical trial, visit https://clinicaltrials.gov. You could play an important role helping researchers understand LSDs, and your participation may help in the development of effective treatment therapies.
