CureDuchenne has launched the CureDuchenne Biobank, a neutral, centralized and self-funded data hub that will unlock information to accelerate research. It will provide a consistent set of resources for scientific discovery and validation in support of existing and future Duchenne muscular dystrophy (DMD) therapy efforts.
CureDuchenne is partnering with Dr. Tahseen Mozaffar of the University of California, Irvine for strategic development and implementation, and with RUCDR Infinite Biologics, the world’s largest university-based biorepository affiliated with Rutgers University. The CureDuchenne Biobank was launched in October at their national FUTURES Conference. More than 30 attendees immediately gave their samples and ongoing efforts will ensure that all patients with Duchenne have a chance to contribute their own samples to support research.
Over 3,000 mutations have been associated with Duchenne (1). While the deletions and duplications may occur anywhere in the DMD gene, they are concentrated between exons 45–55 for deletions and exons 2–10 for duplications (2). In 2016, the FDA granted accelerated approval for Exondys51™( eteplirsen), an antisense oligonucleotide compound indicated for the 10–15% of DMD patients (~1500 treatment eligible individuals) who have the exon 51 deletion. In December 2019, the FDA granted accelerated approval to Vyondys 53 (golodirsen) for Duchenne patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping. It is estimated that about 8% of patients with Duchenne have this mutation. Thus, the current approved treatments potentially benefit up to 23% of patients.
“The CureDuchenne Biobank will support current studies and serve to incentivize and catalyze new research into rare mutations for patients that have no current therapeutic options,” said Romina Foster-Bonds, Director of Programs, CureDuchenne and lead for the CureDuchenne Biobank.
Since the launch, families from all over the world have expressed interest in donating their samples to the CureDuchenne Biobank. With over 50 samples collected so far, there are additional collections scheduled alongside CureDuchenne events to meet the demand from families. By starting with sample collection efforts across the United States, the hope is to collect samples from patients with various mutations, socioeconomic and racial backgrounds to provide a more accurate representation of the whole Duchenne population. CureDuchenne strongly encourages patients to contact them if they would like to participate in the CureDuchenne Biobank.
In 2020, CureDuchenne Biobank will be collecting samples at CureDuchenne Cares events being held throughout the United States. CureDuchenne Cares helps families affected by Duchenne to engage with other families and learn about impactful Duchenne community topics.
CureDuchenne Biobank at CureDuchenne Cares Workshops:
January 18, Tampa, FL
February 8, Houston, TX
March 14, Phoenix, AZ
April 4, Sacramento, CA
April 18, San Diego, CA
CureDuchenne 2020 FUTURES National Conference:
October 9-11, Nashville, TN
Of most importance to families is that EVERY MUTATION MATTERS to CureDuchenne, who is committed to building and growing this effort to help all children with Duchenne.
For more information or to register to participate, visit the CureDuchenne Biobank site here.
- Long C, Olson EN, Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing. Sci Adv. 2018 Jan 31;4(1):eaap9004. doi: 10.1126/sciadv.aap9004. eCollection 2018 Jan.
- Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016 Mar;53(3):145-51. doi: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11.