Lorraine Williamson
A Spanish-led gene therapy trial has significantly improved the lives of nine children suffering from a rare and often fatal immune condition, including three siblings from the United States.
The children were diagnosed with leukocyte adhesion deficiency type I (LAD-I), a severe genetic disorder that impairs the immune system. Without intervention, most children with the condition die before the age of three. For one family, the diagnosis was devastating: all three children — Ava (9), Olivia (7), and Landon (5) — were affected, despite the statistical improbability.
Rare immune disorder diagnosed in three siblings
When both parents carry the gene mutation that causes LAD-I, there is a one in four chance their child will inherit the disease. In this rare case, all three of Alicia Langenhop’s children were born with the condition.
The children suffered constant and painful infections. Their weakened immune systems meant they spent much of their early childhood in and out of hospital, often in medical isolation.
Breakthrough treatment developed by Spanish researchers
Hope came from a research team at CIEMAT, Spain’s Centre for Energy, Environment and Technology. Led by Juan Antonio Bueren and Elena Almarza, the team developed a gene therapy approach to treat LAD-I at its source.
The method involves collecting a patient’s own stem cells. Then they correct the faulty gene in the lab, and reinfuse the cells back into the body. These genetically modified cells restore the immune system, enabling the body to fight infections more effectively.
Celebrating the breakthrough, Spain’s Minister of Science and Innovation, Diana Morant, shared a post on X, stating:
“Spanish science once again proves that it saves lives. Thanks to public research, a therapy developed in our country and by our research talent has achieved this milestone.
Science is our best ally against those who deny it.”
Her comments highlighted the importance of state-backed research and scientific collaboration.
International cooperation enables lifesaving trial
Nine children took part in the clinical trial, which was conducted at three locations: Hospital Niño Jesús in Madrid, the University of California in Los Angeles, and University College London. The trial was made possible through funding by Rocket Pharmaceuticals, a US-based biotech company.
All participants responded positively. Today, each of the children — including Ava, Olivia, and Landon — has returned to school and is living without the daily fear of infection. Regular follow-ups are in place to assess the long-term effects of the therapy.
High cost remains barrier to widespread access
Despite its success, the therapy is expensive. Treating a single patient can cost several million euros. This raises concerns about future access to the treatment and whether healthcare systems or insurers will cover the cost.
Researchers believe the therapy has the potential to be adapted for other rare genetic diseases. However, for widespread impact, affordability and accessibility must be addressed.
The success of this Spanish-developed gene therapy offers new hope to families worldwide. It also marks a significant step forward in the treatment of rare childhood diseases.
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