precision Gene Therapy Offers Potential Treatment for Rare Pap Syndrome
Boston, MA – September 5, 2024 – A novel gene-targeted therapy is demonstrating promising results in preclinical studies for pap syndrome, a rare genetic disorder characterized by anemia, growth retardation, and increased cancer risk. Researchers at Boston Children’s Hospital have developed a precision approach to correct the genetic defect responsible for the condition, offering a potential path toward a curative treatment for individuals affected by this debilitating disease.
Pap syndrome, formally known as Papilloma Virus-Associated Anemia and Growth retardation, stems from mutations in the RECQL4 gene. Affecting an estimated 1 in 100,000 individuals globally, the syndrome currently lacks disease-modifying treatments, with management focused on supportive care for symptoms.The new therapy, detailed in recent research, aims to directly address the root cause of the illness by delivering a functional copy of the RECQL4 gene to affected cells.
The research team, led by Dr. David Williams, utilized a modified adeno-associated virus (AAV) vector to deliver the corrected gene. In laboratory models,the therapy successfully restored RECQL4 gene function,leading to improvements in hematological parameters and cellular health. “We are vrey encouraged by these initial findings,” stated Dr. Williams. “This targeted approach has the potential to substantially improve the lives of patients with Pap syndrome.”
The next steps involve further preclinical testing to optimize the therapy’s delivery and efficacy, with plans to initiate human clinical trials within the next two to three years.The research represents a significant advancement in the field of gene therapy and offers renewed hope for individuals and families impacted by this challenging genetic condition. Funding for the study was provided by the National Institutes of Health and the Pap syndrome Foundation.
