A mother’s experience with severe combined immunodeficiency (SCID) is driving her work as a patient advocate on a CIRM-funded clinical trial—helping shape research that could transform treatment for children born with this rare, life-threatening immune disorder.

A Personal Journey with SCID

Anne Klein’s son, Everett, was diagnosed with SCID—often called “bubble baby disease”—shortly after birth through newborn screening. SCID prevents the immune system from functioning, making even minor infections potentially fatal.

Within days of Everett’s diagnosis, Anne and her family were at UCSF seeking urgent care.

“It was sudden and overwhelming,” Anne said. “We weren’t prepared for how quickly everything would change.”

Everett underwent a blood stem cell transplant at just seven weeks old, with Anne as the donor. While the procedure partially restored his immune system, it also led to serious complications.

Years later, the family chose to enroll Everett in a gene therapy clinical trial for SCID, offering new hope.A mother and a patient advocate for one of CIRM’s Clinical Advisory Panel, Anne Klein’s motivation is personal.

A promising gene therapy for SCID

The CIRM-funded trial at UCSF and St. Jude Children’s Research Hospital is testing a lentiviral gene therapy designed to correct the genetic defect that causes SCID.

In this approach, a patient’s own stem cells are modified in a lab to fix the faulty gene and then returned to the body. The goal is to rebuild a working immune system without the risks of donor transplants.

After initial challenges, Everett is now doing well.

“His immune system is the strongest it has ever been,” Anne said. “He can go outside, play, and even start daycare. That’s something we once thought might not be possible.”

What CIRM’s Clinical Advisory Panels Do

Every clinical trial funded by the California Institute for Regenerative Medicine (CIRM) includes a Clinical Advisory Panel (CAP). These panels provide expert guidance to improve trial design and execution.

Each CAP includes:

• A patient advocate
• An external scientific expert
• A CIRM science officer

The goal is to ensure that trials are not only scientifically sound but also designed with patients’ real-world needs in mind.

Why Patient Advocacy Matters in Clinical Trials

As a CAP member, Anne brings the lived experience of a SCID parent into the research process.

Patient advocates help:

• Ensure trials are patient-centered and accessible
• Improve recruitment and retention of participants
• Provide insight into the emotional and practical realities families face

“I can help researchers understand what families go through,” Anne said. “And I can connect with other SCID families to share information about new treatment options.”

Her involvement also reflects a broader shift in clinical research—placing patients at the center of therapy development.

Behind the Science

Anne has seen firsthand the collaboration behind advanced therapies.

At the NIH, where Everett received treatment, she watched researchers who prepared his gene-corrected cells observe the infusion.

“They wanted to see the person they were helping,” she said. “It made the science feel very human.”

Looking Ahead

Everett continues to receive regular follow-up care as part of the trial, including visits to the NIH and UCSF. Long-term monitoring is critical for new gene therapies to ensure safety and durability.

While Anne is hopeful, she is cautious about using the word “cure.”

Her goal is simple: to help ensure more families have access to treatments that could save their children’s lives.

CIRM has invested heavily in SCID research and gene therapy, supporting innovative approaches that aim to replace lifelong treatments with lasting solutions.

For Anne, advocacy is about turning personal experience into progress—for Everett and for every child affected by SCID.

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