Tailored Stem Cell Therapy in Shanghai Cures Boy With Rare Disease

A young boy suffering from an extremely rare and severe genetic disorder has been declared fully cured after a successful stem cell transplant at the Children's Hospital of Fudan University in Shanghai.

The patient, born in May 2024, was diagnosed with LIG4 syndrome, an autosomal recessive disorder caused by mutations in the LIG4 gene. This condition impairs DNA repair and lymphocyte development, leading to high radiation sensitivity, severe immune deficiency, a significant risk of cancer, and a historically poor prognosis.

A stem cell transplant is the only potential cure, but it carries exceptional risks for LIG4 patients. The necessary preconditioning regimen, which prepares the body for transplant, can cause far more severe complications in these children than in ordinary patients, making successful treatment exceedingly rare worldwide.

After extensive research, the boy's parents contacted Dr Zhai Xiaowen and her team at the hospital. With over a decade of specialization and more than 600 pediatric rare disease stem cell transplants performed at a success rate exceeding 75 percent, Zhai's team was uniquely equipped for the challenge.

Admitted at the end of 2024, the boy underwent meticulous evaluation. The medical team designed a tailored, ultra-cautious preconditioning plan to maximize safety. His sister was identified as a perfect donor match.

On January 2, 2025, he received an infusion of his sister's stem cells, collected from her peripheral blood. The procedure was smooth, and after careful monitoring, the boy was discharged on the following February 13.

Returning for his one-year follow-up last week, all examination results were normal. He showed no signs of infection, graft rejection, or other complications. All medication has now been discontinued, marking a complete return to health.

"This successful treatment represents a major milestone for a condition with very few documented cures globally," said Zhai. "The child's full recovery is a testament to precise, individualized care and offers hope to other families facing similar rare diseases."