Listen to this page using ReadSpeaker

Patient Registries Help Advance Research for Rare Diseases

Image of Keyboard and StethiscopeRare disease research is challenging, because patient information about the conditions is inherently limited. Patient recruitment for clinical trials can be especially difficult, because so few people are affected.

To address these issues, a number of foundations, patient advocacy groups and governmental institutions have launched online registries to collect patient information for use by researchers, doctors and public health experts.

In addition to bolstering rare-disease research and study recruitment, many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.

In 1992, the Foundation Fighting Blindness established a registry for people with retinal degenerative diseases and their families. We’ve collected information from approximately 11,000 participants and are currently migrating over to a significantly enhanced, user-accessible, online system. Stay tuned for further details as we move closer to rolling it out.

Basic Features of a Registry

Patient registries can vary widely in their features and capabilities. The focus is on providing participants with online access and control, so they can create and edit their information and record their personal experiences with their condition over time. Many systems also allow both patients and their physicians to upload and access medical records.

The information collected often includes: genetic profiles, lifestyle habits, disease symptoms, prescribed treatments and their effectiveness and family histories. In some cases, complete electronic medical records — including images obtained through fundus photography or optical coherence tomography — can be uploaded.

Biobanks for Storing Biological Samples

Some registries may include, or be linked to, a biobank, which stores biological samples from patients and their relatives. The value of these samples is that they can be used for future genetic studies or research. The samples might include: cells scraped from a patient’s skin or the inside of his or her cheek, cells isolated from a patient’s blood sample, DNA extracted from blood or tissue or other biological materials.

Information on Family Members

Relatives of people affected by a disease may also be part of a registry or biobank. Information from family members can help researchers better understand disease-risk factors, including genetics, disease inheritance patterns and lifestyle habits that may affect disease onset and severity.

De-identification to Ensure Patient Confidentiality

Researchers usually have to apply for access to a registry or biobank and demonstrate they have a valid and relevant scientific project that would benefit from access to the data. They also agree to respect patient confidentiality. While registries provide patient information to researchers, the data is usually “de-identified” to maintain the patients’ anonymity.

With de-identification, patients are assigned a unique alpha-numeric identifier. Researchers are given access to the patient information except for names — the identifier is used instead. However, in some registries, patients may not be de-identified, allowing researchers to contact them directly.

The Benefit of Registry Networks

By linking different registries together, scientists are learning how various diseases relate to each other, including how a therapy for one condition might work for another. For example, an investigator might identify a treatment candidate for retinal degenerative diseases by investigating emerging therapies that work for other neurodegenerative disorders.

The National Institute of Health’s Office of Rare Disease Research recently launched its Global Rare Diseases Patient Registry and Data Repository (GRDR), a pilot program connecting different patient registries to facilitate pan-disease analysis. The GRDR serves as a network hub and repository to enable researchers to access various rare-disease registries to search for associations and commonalities among different conditions. The Foundation Fighting Blindness is a participant in the GRDR.

For More Information

In the near future, the Foundation will post more information on its revamped registry on Eye on the Cure and the FFB website.

In the meantime, to learn more about patient registries, visit the following pages on the GRDR Web site:

Why are there rare disease registries?
How do registries work?
How can the data be used?
 


18 Responses to 'Patient Registries Help Advance Research for Rare Diseases'

  1. Eugene Bruce Burleson III says:

    As of April 2012, my wife has become blind as a result of diabetes. What can we do to help in the flight against blindness?

  2. jai sharma says:

    My brother sh Jai Sharma , age 26 th year is suffereing from Ritinits pigmentosa since 2005 . I am living at Jhansi – UP -India and take so may treatment but still not proper cured please advice for further .

  3. Dodi Johnson says:

    My daughter was just diagnosed with RP. I really don’t know where to start.

  4. Veena says:

    Since about 10 years I have got uveyetis in both eyes. I would like to know:

    (I) if it can be cured and how?
    (II) if there is a possibility to become blindd?

    Please help.

    • EyeOnTheCure says:

      Venna, thank you for your comment

      Unfortunately Uveyetis is not a disease that we specialize in funding research for. We would encourage you to check out the National Eye Institutes page on this condition. Under ‘helpful links,’ towards the bottom, you will see a link for some information on organizations and institutes that focus on research and resources for Uveyetis and those who suffer from it.

      http://www.nei.nih.gov/health/uveitis/

  5. Rick van Loy says:

    Hi, i am 45 years old i am suffering from achromatopsia since my birth. If you need me for a clinical trial.

    Let me know!

    • EyeOnTheCure says:

      Hi Rick,

      Thanks for commenting. This information might be better suited for groups who recruit clinical trial participants. We primarily provide funding for them.

      We would recommend that you visit http://www.ClinicalTrials.gov. On this website, which is maintained by the National Health Institute, you are able to search for clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help or further information if needed.

  6. Jill Cox says:

    My mom is 76 and is in the later stages of RP. She would be interested in any clinical trials or experimental procedures or anything that might help her. Please contact me with ANY information.

    • EyeOnTheCure says:

      Jill, thanks for your comment. We would recommend that you start by visiting http://www.ClinicalTrials.gov.

      On this website, which is maintained by the National Health Institute, you are able to search for RP clinical trials by searching based on the name of the disease. Each clinical trial listing in your search results will tell you more about the study and how you can contact them to see if they are recruiting, and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help or further information if needed.

  7. melissa soto says:

    I am 43 year old female diagnosed with stargardts disease… would love any information or to be part of a study if qualified.

    • EyeOnTheCure says:

      Melissa, thanks for your comment. We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  8. Christina McMullin says:

    I am 69 yrs old and was diagnosed with Stargard’s at 50 yr’, no change until 63 yrs. Gradual decline since. I would be open to participating in a trial and would appreciate any information regarding a support network any advances in the treatment of this condition. thanks.l

  9. Marjorie Weintraub says:

    Could someone please tell me where I could find information on Proliferative Vitreoretinopathy ( PVR)? Not very much information on this condition that causes blindness. I have had 7 eye surgeries and lost most of my eye sight due to reoccurring retinal detachments from scar tissue build up after surgery to attach the retina. If this happens to my other eye, I will be totally blind. There doesn’t seem to be any support groups or much research being done for this condition. I would be very appreciative to hear from others who have this condition. I have no lens in my eye since the doctor is concerned about another detachment. My biggest concern is if there is a retinal detachment to the other eye ….and what I can do to prevent this from happening!
    Thank you.

    • jblasco says:

      Hi Marjorie,

      Unfortunately, this is not an issue the Foundation deals with. You may want to visit the website of the National Eye Institute (http://www.nei.nih.gov/) or reach out to someone at the institute – they may be able to point you in the correct direction on other resources or organizations who specialize in your condition.

  10. Can I simply just say what a comfort to find an individual who genuinely understands what they
    are talking about on the net. You actually realize how to bring an issue to light and make it important.

    More people should read this and understand this side
    of the story. I was surprised that you’re not more popular since you certainly possess the gift.

Leave a Reply

Your email address will not be published. Required fields are marked *

*