Hello All: We recently received an email from Peter T, Beaufort, reminding us of the National Foundation of the Blind’s My Retina Tracker. The link had been forwarded to him by Bob W. in Chapel Hill. Peter suggested that this might be of interest to the whole group. The link to the My Retina Tracker website is https://www.fightingblindness.org/my-retina-tracker. I have included a text copy of this page at the very end of this document for those who might have problems reading the webpage.
This reminded me of a document that Dr. Alex Iannaccone told me about a couple of years ago. The document is Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium. Dr. Alex is very involved in this Symposium which meets every five years. The Abstract published after the 2013 Symposium recommended that people with retinal disorders consider registering in two data bases: the National Eye Institute (www.nei.nih.gov/eyegene/) and My Retina Tracker www.myretinatracker.org
I have included some of the headings from the 2013 Monaciano Symposium, which was published in 2015. This is an outstanding document and is one of the many reasons we need to stay in contact with Dr. Iannaccone & the Duke Eye Center. The Second Monaciano Symposium occurred in October of 2018 but I fear it will be several more months before we get any publications from the event. I have a copy of the entire 2013 abstract if anyone wants to read it. It is long, some 87 or so pages.
We can do so much more together.
Bill Graham
——— Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium ——-
Abstract
Although rare in the general population, retinal dystrophies occupy a central position in current efforts to develop innovative therapies for blinding diseases.
Introduction
Over the past 3 decades, global research efforts have unveiled the genetic complexity of the group of rare disorders collectively referred to as retinal dystrophies.
The Disease Landscape and Therapeutic Options
The retinal dystrophies are a genetically and phenotypically heterogeneous group of disorders affecting the function and viability of photoreceptor cells. Syndromic and nonsyndromic forms of retinal dystrophies with autosomal, X-linked, and mitochondrial inheritance are observed.
Gene Therapy
Gene therapy has tremendous potential for treating diverse forms of retinal dystrophy, particularly when using viral vectors engineered for delivering transgenes to specific classes of retinal cells (reviewed in Refs. 3 and 4). For early-stage disease where the genetic cause
Registered Clinical Trials of Gene Therapy for Retinal Diseases
Ongoing and Anticipated Trials
Future Considerations
Challenges and Potential Barriers
Other challenges to advancing gene therapy include needed improvements in vector capacity, as well as strategies to increase the number of transduced cells.
Photoreceptor Cell Transplantation
Many forms of retinal dystrophy are due to mutations in genes encoding rod photoreceptor proteins, causing rods to die well before cones; however, it is the
Clinical Considerations
Despite its great potential, significant risks may be associated with retinal-cell transplantation, including loss of remaining vision due to potential surgical damage, inflammatory responses, immune rejection,
Preparing for Transplantation Therapy
Clinical Trials
As most forms of gene and cell therapy available in the next decade will be experimental, human studies will be largely confined to officially sanctioned clinical trials funded by major sponsors that can provide unbiased scientific evidence. Phase I clinical trials are
Identifying Patients of a Specific Genotype
Although diagnostic tools are now available that can identify disease-causing mutations in many retinal dystrophy cases with Mendelian inheritance,58 finding patients with a genotype of interest, and who also meet specific phenotypic criteria, remains a significant challenge for clinical trial design. The difficulty begins
Identifying Well-Phenotyped Patients
A second challenge is the identification of patient cohorts with mutations in a specific gene who are appropriate for inclusion in a study. Patients who self-identify may have a genetic testing report, but limited phenotypic data, and such individuals may not always be aware of clinical trials. For patients in databases curated by individual institutions, there may be challenges with respect to data sharing, as well as geographic limitations. For patients in databases compiled by testing laboratories, detailed phenotypic information may not be available. One important resource is the eyeGENE database maintained by the National Eye Institute (www.nei.nih.gov/eyegene/). At the time of the Monaciano Symposium, 4736 people were enrolled, including 4055 people affected with retinal dystrophies, including 159 genetically confirmed X-linked retinoschisis (RS1), 249 choroideremia (CHM), 450 probable Stargardt disease (ABCA4), 80 dominant RP (RHO), and 239 X-linked RP (216 RPGR and 23 RP2) patients (Kerry Goetz, MS, National Eye Institute, written personal communication, 2013). However, eyeGENE offers testing for only certain categories of diseases and only limited phenotypic data are available. Another resource is the Foundation Fighting Blindness, which established a National Retinal Degenerative Disease Registry in 1992 for individuals with retinal degeneration and their families. This database has collected information from more than 11,000 participants, including patients with both inherited and acquired retinal disease, and in 2014 the registry migrated over to a new enhanced, user-accessible online system known as My Retina Tracker (https://www.myretinatracker.org/). The database enables participants to build a personal retinal health record, allows them to enter, store, retrieve, review, and update their information at any time, and provides the option to invite their physicians to enter clinical data. Access to the database is limited to participants, the Foundation Fighting Blindness registry staff, and qualified researchers who have been approved to access de-identified data.
Improving Understanding of Disease Progression
A further challenge relates to identifying patients who can benefit from treatment, and whose disease progression in the absence of treatment can be reliably predicted. One
Priority 4: Defining the Therapeutic Window of Opportunity
Although early diagnosis and treatment are important goals for the future, defining effective therapeutic options for both early- and advanced-stage disease as the field develops will be essential for helping the greatest number of affected individuals. Important
Priority 5: Improving Outcome Measure Testing and Standardization
The increasing complexity of testing technologies, combined with growing numbers of patients, test sites, and therapeutic modalities, present significant challenges for evaluating disease status and treatment
———————— My Retina Tracker
My Retina Tracker
What is the My Retina Tracker registry?
My Retina Tracker is a registry of people and families affected by rare inherited retinal degenerative diseases (IRD). There are over 20 retinal degenerative diseases which the Foundation Fighting Blindness studies. The list, includes retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, Usher syndrome, Best disease, choroideremia, and achromatopsia, amongst others.
The registry is designed to share de-identified information within the IRD research and clinical communities about people with an inherited retinal disease to help accelerate the discovery of treatments and cures. Using the data in My Retina Tracker helps us understand how common each type of retinal disease is, how it impacts people’s lives, how the disease progresses, the genes that cause the disease, and helps researchers and companies to efficiently find people who might be interested in participating in research studies and clinical trials.
Who is behind the My Retina Tracker registry?
My Retina Tracker is provided by the Foundation Fighting Blindness a US-based non-profit organization with the mission to help find treatments and cures for the inherited retinal diseases.
How is the My Retina Tracker registry funded?
Funding support comes from the Foundation’s membership and multiple awards from other non-profit organizations and companies who seek to support the Foundation’s mission.
How can I join the My Retina Tracker registry?
Membership is free. Using the internet, go to www.MyRetinaTracker.org and click the button marked “Click here to register now!”
If you have a problem using your computer you can ask to have a paper-based enrollment package sent to you, or schedule a call to have a person walk you through the registration process over the phone. To learn more about these options contact Coordinator@MyRetinaTracker.org.
My Retina Tracker Genetic Testing Study
What is the My Retina Tracker Genetic Testing Study?
The Genetic Testing Study is one of the current membership benefits of My Retina Tracker. The genetic basis of disease is important for understanding the inherited retinal dystrophies and for developing treatments and cures for the diseases. To enhance the value of the registry, members are currently being offered the chance to participate in a research study to identify the genetic basis of their disease.
As a research study, there is a specific protocol an ordering clinician must follow and a limited number of enrolling physicians.
Who is eligible for the My Retina Tracker Genetic Testing Study?
Any member of the My Retina Tracker registry, who is also a resident of the United States, may apply for the Genetic Testing Study if they have been clinically diagnosed with one of the orphan inherited retinal degenerative diseases studied by the Foundation and have not received a clear genetic test result. For more information about the Genetic Testing Study, read the complete Frequently Asked Questions document available on www.MyRetinaTracker.org – FAQs and Documents.
Cost of Participating
What does the test cost?
For members of My Retina Tracker, there is no out of pocket cost for the genetic test or the associated genetic counseling. The costs of the test and counseling, which are well over $1,200 carry no cost to the participant.
However, participants will need to cover any cost of a clinical consultation and related exams that an enrolling physician may decide are necessary before they can order the test.
How long will the Genetic Testing Study be offered?
The Genetic Testing Study is a current membership benefit for those who have a profile in My Retina Tracker and are residents of the United States, but is an expensive study that is dependent on the generous support of donors. While we anticipate our current funding will support testing through 2019 this is subject to change according to costs and funding.