95% of kids with “bubble boy” disease cured by one-time gene therapy
Original story by: New Atlas
Last updated: Oct 17, 2025
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- Context: A groundbreaking gene therapy trial has demonstrated a 95% success rate in effectively curing ADA-SCID, a severe immune disorder, in children. This donor-free treatment utilizes the patient's own stem cells, genetically modified to produce a missing enzyme, offering a lasting solution for this previously life-threatening condition.
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- Detailed Summary:
- The study involved 62 children with ADA-SCID, a condition caused by a deficiency in the ADA enzyme, leading to a buildup of toxic metabolites that harm the immune system, particularly white blood cells.
- Traditionally, ADA-SCID is treated with lifelong enzyme replacement therapy or bone marrow transplants from donors, both of which have limitations or significant risks.
- This experimental gene therapy involved a mild chemotherapy regimen to prepare the bone marrow, followed by a transplant of the patient's own hematopoietic stem cells genetically modified with a functional ADA gene.
- The therapy achieved a long-term success rate of 95% (59 out of 62 children), with treated individuals showing normal enzyme levels, restored immune function, and the ability to stop antibody infusions and respond to vaccines.
- Crucially, all children survived the trial, and none developed cancer-like cell growth, indicating a safe and durable immune reconstitution.
- The use of cryopreserved stem cells proved effective, simplifying logistics by allowing local collection and distant processing, which is expected to broaden access to the therapy.
- Three children did not achieve full success, with two eventually receiving bone marrow transplants and one continuing enzyme injections while awaiting a transplant.
- The researchers are now seeking FDA approval for this innovative gene therapy, with plans for commercial production and wider availability.
- The therapy offers a stark contrast to the severe isolation required for children with ADA-SCID, as exemplified by a patient who was able to lead a normal childhood after treatment.
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