The latest development in moving research forward for CRB1 LCA/RP retinal disease involves a collaborative effort between the CRBF, Sanford Research, and best of all… patients! The CRB1 patient registry is an opportunity for patients to help drive research and advocacy for this rare eye disease. Here’s a short overview (with links to more in depth resources) to better understand the need and value in a patient registry.
What is a patient registry?
From the National Institutes of Health: A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Many registries collect information about people who have a specific disease or condition, while others seek participants of varying health status who may be willing to participate in research about a particular disease. Individuals provide information about themselves to these registries on a voluntary basis. For more info from the NIH regarding registries visit here.
Why is a registry important?
Visit the National Organization for Rare Disorders (NORD) website (link here) to see an interview with Medscape and Marshall L. Summar, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C. and NORD board member, where Dr. Summer discusses the importance of patient registries for rare diseases.
From the NORD website: According to Dr. Summar, registries can accelerate the process of treatment and help physicians address the big knowledge gap about what happens in the day-to-day lives of patients. By better understanding what is happening with rare disease patients, “we can develop better therapies by understanding conditions and the long-term consequences of rare disease.”
Is there anything in addition to research for treatments that a registry can be useful for?
The CRBF is also using the CoRDS registry to collect data regarding living with this rare eye disease, specifically whether the patient is a Braille, large print, or regular print reader. This information will help families, educators, etc advocate for services for younger CRB1 LCA/RP patients so they are equipped with the necessary tools to thrive in educational settings.
How can CRB1 LCA/RP patients enroll in the registry?
If you or a family member received a diagnosis of CRB1 retinal disease diagnosis, please visit the CoRDS page for CRB1 here and click Enroll Now.
The CRBF is proud to partner with Sanford Research and CRB1 patient families in this exciting step in our journey toward treatemtns and resources for this inherited retinal disease. For questions regarding participation int he CRB1 LCA/RP registry please send an email to firstname.lastname@example.org