Networking Grant On Exon Skipping For Rare Diseases
The European Cooperation in the Field of Science and Technical research (COST) provides funding for networking to solve scientific and/or societal challenges that can only be overcome by networking. One of its grants involved antisense oligonucleotide-mediated exon skipping and is coordinated by Annemieke Aartsma-Rus (“Networking towards clinical application of antisense-mediated exon skipping”).
This COST funded network aims to accelerate and facilitate the development and clinical implementation of exon skipping in rare diseases, with a focus on Duchenne muscular dystrophy. It will do so by organizing meetings and workshops addressing the following issues:
- Developing new regulatory models for the development of exon skipping compounds for small patient groups.
Generally, exon skipping is developed as a therapeutic approach for rare diseases (sometimes even for a subset of patients with a certain disease), while regulatory models have been set up with common diseases in mind. This leads to challenges regarding the number of patients involved in trials. Thus new regulatory models are needed to develop these approaches for as many patients as possible in a safe and efficient way.
- Aiming to reach consensus on and standardization of biochemical outcome measures
As exon skipping generally targets gene defects, restoration of the missing protein can be a method to assess whether the approach worked. However to compare preclinical work across laboratories it will be crucial to standardize assessment of protein and protein levels. Furthermore, markers in easily accessible liquids (e.g. serum or urine) of which levels correlate with disease progression would ideally be surrogate markers in clinical trials. Identification and assessment of these ‘biomarkers’ should also be done in a harmonized way.
- Foster synergistic work
Workshops focusing on specific challenges will allow jointly tackling common problems. The first workshop on delivery of antisense oligonucleotides for exon skipping will be in September in Leiden, Netherlands. Participation is restricted to members of the COST Network.
- Improve communication to patients and society
Especially when presenting potential therapeutic approaches to parents/patients, it is crucial to provide clear and unbiased information to avoid the patients having unrealistic expectations on what a potential therapy can do and when it would be available. Therefore workshops will be organized to train early stage researchers in how to present their work to patients.
COST networks are flexible and allow participation of additional partners, provided they are working in a COST country (view list here). People working in other countries can also join, but would have to pay for their own travel costs. If you have an interest in one or more of the objectives or are working on exon skipping for rare diseases and would like to join this network, please inform me by email, Annemieke Aartsma-Rus. More information on this COST Action can be found here.