2B Empowered Patient Conference
The Jain Foundation hosted a patient conference for US patients on May 26, 2015. Summaries of the talks and links to the recordings are available below. Handouts from a session on national resources available for dysferlinopathy patients are also linked below.
Dr. Doug Albrecht on Developing Treatments for Dysferlin Deficiency
Almost all individuals with dysferlinopathy who contact the Jain Foundation either begin or end their correspondence with us by asking: “Can you tell me what is happening?” or “How close are we to finding a cure for this devastating disease?”
Jain Foundation scientific director, Doug Albrecht, gave an overview of the Jain Foundation’s scientific strategy for therapeutic discovery and how/when/why we are supporting these areas of research. This was a targeted presentation with the goal to provide patients with an understanding of our current status: what we are studying/funding and what areas of scientific discovery are being pursued. In this presentation, specific therapeutic targets described include: gene therapy, gene editing, stem cell therapy, stop codon read through, exon skipping, chaperones and protein therapy. Here is the order of the topics presented:
Goal: Establish a first therapy for LGMD2B
- Where we started
- What it takes to get a drug to market
- Building a knowledge base
The situation today
Emerging Therapeutic Options
- Part 1 - Slow down disease progression
- Part 2 – Put dysferlin back
The Road Ahead
Dr. Jerry Mendell on Gene Therapy
Dr. Jerry Mendell shares some of his experiences from a decade of research and the challenges his team has faced in developing gene therapy for muscular dystrophy.
Dr. Matthew Wicklund talks about Dysferlinopathies
Dr. Matthew Wicklund discussed the symptoms of LGMD2B/Miyoshi myopathies and how they are diagnosed.
Dr. Brad Williams on Patient Advocacy
Brad Williams, Director of Research and advocacy leader explains why and how the patient an equal partner in the quest to get therapies to the clinic. Learn about how you play a critical role in ways you may not have known about before.
Dr. Laura Rufibach talks about COS
Jain Foundation Vice President of Clinical Strategies, Laura Rufibach presented preliminary data from the International Clinical Outcome Study (COS) for Dysferlinopathy. Each person involved in this three year study is helping to bring our LGMD2B/Miyoshi myopathy community closer to therapeutic interventions. Sharing the learnings from the study is exciting and encouraging as we hope this information can be used in the discovery of future treatments and for the management of future treatments.
One patient at the conference lead a discussion on the various resources that are available for dysferlinopathy patients across the US. Download the handout from the discussion here.