CureDuchenne Continues to Support Research for Duplication Mutations in Duchenne, and with Dr. Flanigan From Nationwide Children’s Hospital with a Coalition of Families Impacted by the Disease
NEWPORT BEACH, Calif., June 8, 2017: CureDuchenne, a nonprofit dedicated to funding research and improving patient care for Duchenne muscular dystrophy, continues to support Dr. Kevin Flanigan from Nationwide Children’s Hospital duplication 2 mutation research to find a treatment for a rare mutation of Duchenne. CureDuchenne has funded more than $1 million to support this research over the past five years. New funding will support IND-enabling studies to complete pre-clinical data that could lead to human clinical trials in early 2018. CureDuchenne is working with families affected by this rare mutation to help accelerate clinical development.
“Over the past five years we have pioneered duplication mutation research by funding Dr. Kevin Flanigan’s team at Nationwide Children’s Hospital,” said Debra Miller, founder and CEO of CureDuchenne. “We are very pleased to see Dr. Flanigan’s work progress and proud to have supported his research on duplication and rare mutations from the beginning. We are grateful for the families and other donors who helped fund this important research to date and we continue to work with families affected by Duchenne to help advance this research to human clinical trials.”
To help fund this research, please donate to Dr. Flanigan’s research project.
Dr. Flanigan’s team began by studying exon skipping as a potential therapy for duplicated exons. What began as a novel therapy for skipping the most common duplication – exon 2 – led him and his team to uncover a novel element in the gene that creates a shorter, highly functional version of the dystrophin protein. This element, called an internal ribosome entry site (IRES), allows translation of a protein from a starting site within exon 6. It gives a large therapeutic window for the idea of skipping exon 2. These results not only provide a great deal of confidence in the usefulness of this approach for patients with duplications of exon 2, but may provide a route to therapy for patients with many different mutations within the first 5 exons of the gene. CureDuchenne has provided the lead funding for Dr. Flanigan’s duplication research.
With CureDuchenne’s support, Dr. Flanigan’s lab the Center for Gene Therapy in the Research Institute at Nationwide Children’s has:
- Created a new mouse model (Dup2) of Duchenne that contains a duplication of exon 2 for the direct testing of exon-skipping therapies
- Identified a new novel internal ribosome entry site that allows for production of a highly-functional N-truncated dystrophin protein
- Demonstrated significant exon 2 skipping as well as increased dystrophin production and functional rescue through virally mediated exon 2 skipping
- Treatment leads to increased production of the truncated dystrophin protein six-month post treatment in Dup2 mouse
Duchenne muscular dystrophy is a fatal genetic disease that causes muscle degeneration and affects 1 in 3,500 boys. Duchenne typically result from mutations that disrupt the reading frame of the dystrophin gene and interrupt protein translation so that no dystrophin is made. Boys with Duchenne are usually diagnosed by age 5, lose their ability to walk by age 12 and most don’t survive their mid-20s.
CureDuchenne was founded in 2003 with a focus on saving the lives of those with Duchenne muscular dystrophy, a disease that affects more than 300,000 children and young adults worldwide. With support from CureDuchenne, nine research projects have advanced to human clinical trials. CureDuchenne also brings physical therapy and standard of care to local communities around the country through its CureDuchenne Cares program. For more information, please visit CureDuchenne.org and follow us on Facebook, Twitter, Instagram and YouTube.