(BPT) – When someone has a genetic disease, the disease is lifelong. Many rare diseases are caused by a single gene not functioning correctly, and approximately 90% do not have any available treatment. Of those that do, most treatments are chronically administered, meaning a person must take the medicine on a set schedule for the remainder of their life, and such treatments are often only able to treat some of the symptoms. However, in the past few decades, research into gene therapies has increased, and genetic medicines now have the potential to address, or correct, the non-working gene with a single administration.Gene therapy and MPS II (Hunter syndrome) Gene therapy is designed to deliver a functional copy of a gene into a person’s cells where there is a missing or non-working gene that is causing a disease. The goal of gene therapy is for the functional copy of the gene to begin working as it should, which is to act as an “instruction manual” for the cell to create a specific protein.A unique characteristic of gene therapy is that it is designed to be given to a patient just one time and to have long-term effects. There are FDA-approved gene therapies that are being used to treat patients with rare genetic disorders and many more that are currently being developed and tested in human clinical trials. One disease that could potentially be addressed with a gene therapy approach is mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, a lysosomal storage disorder that occurs in 1 in 100,000 to 1 in 170,000 males.In Hunter syndrome, the IDS gene is missing or non-functional, and the body is unable to produce the protein needed to break down large sugar molecules or cellular waste, called glycosaminoglycans (GAGs). The accumulation of GAGs in patients with Hunter syndrome causes multiple symptoms, such as joint stiffness, carpal tunnel syndrome, sleep apnea and loss of hearing. Severe Hunter syndrome results in progressive debilitation and decline in intellectual function. Currently, there are no available treatments targeting the genetic cause of Hunter syndrome.juMPStart: A clinical trial for adults with Hunter syndrome A clinical trial called juMPStart is evaluating an investigational gene therapy for adults with Hunter syndrome. It is designed to be given to the patient through a single intravenous (I.V.) administration, with follow-up appointments with a physician to monitor the patient’s health.The juMPStart trial is enrolling adults with Hunter syndrome at clinical sites throughout the U.S. and Canada. Participation in this clinical trial may include enzyme replacement therapy (ERT) discontinuation. Candidates for juMPStart include Hunter syndrome patients who:Are male between the ages of 18-45 yearsHave a confirmed diagnosis of Hunter syndromeAre currently receiving ERT as treatment for Hunter syndromeThere are additional requirements to participate, which a doctor can explain. Does this sound like something you or someone you know would be interested in? If so, talk to your doctor, take this short questionnaire to see if you are a candidate for juMPStart or consider sharing the information.
How to learn more about gene therapy for adults with Hunter syndrome
