A report from the journal of Translational Vision Science & Technology has highlighted a recent symposium for advancing clinical trials for Inherited Retinal Diseases (IRDs). A gathering of IRD experts convened at an international symposium in Siena, Italy, to discuss several key priority areas to advance clinical research for therapeutic efforts developing treatments for blinding conditions. The impetus of the symposia is expected to further accelerate IRD research over the next 10 years and attendees have aimed to outline key seven priorities. The delegates’ aim was to bring together European and US expert ophthalmic specialists in the field of research and to highlight the need to train increased numbers of international IRD research groups.
Following the discussions at the meeting, the seven priorities identified were:
(1) using natural history studies to guide clinical trial design;
(2) developing outcome measures meaningful to patients;
(3) standardizing validated outcome measures;
(4) reducing inflammation associated with IRDs and gene therapy;
(5) developing a paediatric action plan;
(6) improving advice to patients; and finally;
(7) promoting transparency, accountability, and accessibility.
Increasing recognition of the importance of ascertaining the genetic causes of IRD for all participants in clinical trials, showed that nearly half of individuals tested do not receive a genetic diagnosis for their IRD. Given that significantly, many gene therapy trials will require specific gene-based diagnoses, the recruitment of patients may be a key driver to enable trial cohorts across the EU and US. Patient-centered data sharing initiatives are expected to accelerate the growth of global open databases, such as ClinVar and the Leiden Open Variation Database.
Delegates have reported that Phase 1/2 trials have initiated several therapeutic opportunities including gene augmentation for recessive loss of function, gene knockdown and replacement for dominant disease, delivery of targeted drugs, including visual cycle inhibitors, retinal chromophores, and complement inhibitors. In addition, oligonucleotide therapy for RNA modulation, small molecule therapy, genome editing using CRISPR/Cas and others was also identified. Concluding on the research report, the contributors of the symposium stated that, the expanding reach of IRD clinical trials, including access to unique patient populations, is creating exciting new opportunities for research and treatment, while also highlighting the need to train increased numbers of international IRD experts. Access to trusted information, including a balanced portrayal of ongoing research efforts and expectations for clinical trials, is strengthening the environment in which clinicians and individuals are making critical health care decisions.”