Gene Therapy Allows Girl once at Risk From All Germs too Live a Normal Life
WASHINGTON – Eliana Nachem,who once faced a life-threatening risk from even minor infections,is thriving at age 12 thanks to a groundbreaking gene therapy treatment for Adenosine Deaminase-Severe Combined Immunodeficiency (ADA-SCID),a rare genetic disorder. Exposure to any germs could have been fatal for Eliana before the treatment. Now, she attends dance classes and enjoys a typical childhood, a stark contrast to the isolation she experienced as an infant.
ADA-SCID, often called “bubble baby disease,” severely compromises the immune system, leaving individuals vulnerable to life-threatening illnesses. This success story offers renewed hope for the roughly 20 babies born with ADA-SCID each year in the United States, and possibly paves the way for similar gene therapies for other rare diseases. The treatment,which corrects the faulty ADA gene,is showing long-term promise,with some patients now 15 years post-treatment and living normal lives.
Eliana’s father shared that she “was able to go from living in isolation to being able to go to preschool and go swimming in a public pool and play on a playground and do all the things that every other kid gets to do,” thanks to the therapy.
The treatment addresses the root cause of ADA-SCID: changes in the ADA gene that cause a buildup of toxins in lymphocytes, potentially leading to hearing loss and learning difficulties as children age. Unlike other forms of SCID, ADA-SCID doesn’t solely impact the immune system.
Dr. David Kohn, involved in the trial, explained, “We think it’s a lifelong therapy.” He added that patients treated as infants are now reaching milestones like attending prom, demonstrating the durability of the treatment’s effects.
Eliana continues to undergo immune system testing twice a year, and so far, her immune system remains strong. Researchers hope this success will become the standard of care for ADA-SCID and open doors for gene therapies targeting other rare genetic conditions.Dr.Mousallem, of Duke University, stated, “The data is great for ADA-SCID, and it is our hope that one day this becomes the standard of care.”
