Publications by authors named "P T Bosma"
Article Synopsis
- Patients with severe inherited liver disorders traditionally relied on liver transplants for treatment, which necessitated lifelong immune suppression.
- Recent advancements in liver-directed gene therapy have made it a viable, less invasive treatment option for conditions like hemophilia A and B, potentially opening doors for treating other recessive liver disorders.
- Various gene therapy strategies, including gene supplementation, editing, and repair, are being explored in studies, each with its pros and cons depending on the specific liver disease mechanism involved.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
View Article and Find Full Text PDFAims: Patients with mutations in ATP8B1 develop progressive familial intrahepatic cholestasis type 1 [PFIC1], a severe liver disease that requires life-saving liver transplantation. PFIC1 patients also present with gastrointestinal problems, including intestinal inflammation and diarrhoea, which are aggravated after liver transplantation. Here we investigate the intestinal function of ATP8B1 in relation to inflammatory bowel diseases.
View Article and Find Full Text PDFArticle Synopsis
- - The study focused on patients with Crigler-Najjar syndrome, a condition characterized by the lack of the enzyme UGT1A1, leading to high bilirubin levels that can cause serious health issues, with liver transplantation being the only definitive treatment.
- - Researchers tested an intravenous gene therapy using an adeno-associated virus to deliver UGT1A1 and observed safety and efficacy in five patients, with variable doses administered; no serious side effects were reported, though some patients experienced mild adverse reactions.
- - The results showed that while patients receiving the lower dose did not achieve the desired bilirubin levels, those on the higher dose successfully reduced their bilirubin levels below the treatment threshold, suggesting potential benefits of the gene therapy