New Gene Therapy Offers Hope for Hirschsprung Disease, Could Eliminate Need for Surgery in Children

October 5, 2024
New Gene Therapy Offers Hope for Hirschsprung Disease, Could Eliminate Need for Surgery in Children
  • Danny, now 19, was diagnosed with Hirschsprung disease as an infant after his mother sought help at Mass General for Children due to his vomiting and distress.

  • Hirschsprung disease is a condition characterized by the absence of nerve cells in the large intestine, which prevents stool detection and leads to bowel paralysis.

  • Faced with the choice between long-term use of a colostomy bag or surgery to remove his entire colon, Danny's parents ultimately chose surgery, despite their fears.

  • Post-surgery, Danny encountered new challenges, including difficulties with bowel control that may persist into adulthood for many affected children.

  • Growing up, Danny struggled with anxiety, often missing school and avoiding social situations like sleepovers due to concerns about bathroom access.

  • In an effort to improve treatment options, Dr. Allan Goldstein and his team are researching gene therapy as a potential alternative to restore colon function by creating functional nerve cells.

  • The research team has made significant advancements in isolating and growing nerve cells in laboratory settings, showing promise in animal models of Hirschsprung disease.

  • This research has received funding from the Gene and Cell Therapy Institute at Mass General Brigham, with the goal of eliminating the need for surgical interventions in children.

  • With optimism from both Goldstein and Danny, clinical trials for infants with Hirschsprung disease could be initiated within three years, potentially transforming treatment options.

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