Gene Therapy Brings Hope to Families Affected by Rare Immune Disorder

Imagine a life where every time you step outside, everything in your environment poses a life-threatening risk. For children born with ADA-SCID (adenosine deaminase severe combined immunodeficiency), this is a reality. Their immune systems are so compromised that a common cold or a simple scrape on the knee could result in a dangerous infection.

Donald Kohn, MD, a leading researcher at the UCLA Broad Stem Cell Research Center, has spent decades working on a gene therapy that offers a groundbreaking solution to this rare and life-threatening condition.

With the support of the California Institute for Regenerative Medicine (CIRM), Dr. Kohn and his team are transforming lives-and paving the way for a new era of treatment.

ADA-SCID and the Hope of Gene Therapy

ADA-SCID is caused by a mutation in the ADA gene, which produces an enzyme critical for immune function. Without this enzyme, children are unable to fight infections and are at a higher risk of not surviving beyond their second birthday without intervention.

Traditional treatments like bone marrow transplants or enzyme replacement therapy offer some relief but come with limitations, including difficulty finding suitable donors or the need for lifelong injections. Gene therapy, however, offers the potential for a one-time cure.

Developed by Dr. Kohn and researchers from UCLA and University College London, the gene therapy involves adding a normal copy of the ADA gene in a patient's blood stem cells and reintroducing them into the body. So far, this approach has shown remarkable success in clinical trials, with 39 of 41 patients at UCLA achieving restored immune function.

A Family's Fight: Jakob's Story

For Andrea Fernandez de Soto and her family in Alberta, Canada, the journey with ADA-SCID began when her son, Jakob, was diagnosed 10 days after birth. Thanks to newborn screening introduced in Alberta in 2019, Jakob's condition was identified early, but the road ahead was anything but easy.

From isolating Jakob to protecting him against infections and navigating a complex web of medical decisions, Andrea explains how her family struggled with feelings of fear and loneliness. "Everything changes when you have a baby, but when you have a sick baby, even your family and friend circle has to change," she says.

For the first few years of his life, Jakob relied on weekly enzyme replacement therapy to survive while his family waited for a more permanent solution. That solution came in the form of Dr. Kohn's gene therapy.

Jakob became the fifth participant-and the first Canadian patient-in the clinical trial's second phase. Reflecting on their experience, Andrea shares, "Our excitement was bigger than our fears. After reading about Dr. Kohn's work, we knew we were in great hands."

Now, Jakob is recovering, and his family is hopeful for a future where he can live freely. "We are now more than hopeful; we are touching the dream," Andrea says.

CIRM's Role in Advancing Treatment

Dr. Kohn's groundbreaking work has been made possible by nearly a decade of funding from CIRM. Most recently, he received a $14.7 million grant to establish a commercial manufacturing protocol for the gene therapy-a critical step toward FDA approval.

Although the therapy has already changed lives, making it widely available requires overcoming significant hurdles. Manufacturing gene therapies is an intricate and expensive process, and FDA approval is necessary for insurance coverage.

To address these challenges, Dr. Kohn and a group of colleagues founded Rarity PBC, a public benefit corporation dedicated to expanding access to gene therapies for rare diseases. With CIRM's support, they are working to streamline production, treat more patients on the waitlist, and ensure this life-saving therapy becomes accessible to all who need it.

"Our mission is to make this therapy available to children in need," Kohn said. "This funding from CIRM is a massive boost toward that goal."

A Future Full of Possibilities

Jakob's story is a testament to the transformative power of regenerative medicine. For Andrea, gene therapy represents more than just a medical breakthrough; it's a lifeline for families navigating the challenges of rare diseases.

"We need to give an opportunity to gene therapies because they are the future," she says. "They mean fewer hospital stays, fewer side effects, and better outcomes for pediatric patients."

By the end of the grant period, Dr. Kohn's team hopes to have all the pieces in place to apply for FDA approval, a critical step towards making this life-saving therapy accessible to children worldwide. "Thanks to CIRM's funding, we can see how the future of commercialized therapies can save lives. We need to keep supporting these efforts for all the patients who need them."