Publications by authors named "J Bueren"
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.
Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
- The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
- Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
Article Synopsis
- This study introduces a promising approach for gene therapy in Diamond Blackfan anemia (DBA), focusing on patients with mutations in the RPS19 gene and demonstrating a safe and effective treatment method.
- Unlike Fanconi anemia, DBA patients have a healthy reserve of hematopoietic stem cells, making them suitable candidates for this therapy without significant complications.
- Two novel lentiviral vectors were developed to deliver RPS19, showing successful restoration of red blood cell development in lab experiments, along with confirming safety and potential long-term benefits in hematopoietic cell function.
The development of viral vectors and recombinant DNA technology since the 1960s has enabled gene therapy to become a real therapeutic option for several inherited and acquired diseases. After several ups and downs in the gene therapy field, we are currently living a new era in the history of medicine in which several and gene therapies have reached maturity. This is testified by the recent marketing authorization of several gene therapy medicinal products.
View Article and Find Full Text PDFBackground: The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases.
Objective: IRDiRC launched the Chrysalis Task Force to identify key financial and nonfinancial factors that make rare disease research and development attractive to companies.
Methods: The Chrysalis Task Force was comprised of thought leaders from companies, patient advocacy groups, regulatory agencies, and research funders.