Assist research by joining a patient registry

Man in hospital bed abd a doctor taking readings

James taking part in research at National Institutes for Health

It’s now easier than ever to assist research into aniridia and similar conditions. A patient registry has been set up and we encourage any of you with (with children who have) the following conditions to add your/their details to it.

  • Aniridia
  • Axenfeld-Rieger Syndrome
  • Gillespie Syndrome
  • WAGR/11p Deletion Syndrome
  • Other genetic conditions associated with Chromosome 11p

Patient registries collate knowledge about the symptoms and features of a disorder. This is especially important for rare disorders. A registry is useful to:

  • patients and their families, because it can lead to new understanding or treatments of the condition.
  • doctors, because it helps them learn how to care for people with the disorder.
  • researchers, because it enables them to study the disorder’s characteristics and makes it easier to find participants for studies.

International WAGR Syndrome Association logoThis new registry is based at Sanford Research, a non-profit organisation in the USA. It is supported by the International WAGR Syndrome Association. But it is open to the anyone with only aniridia etc too.

Kelly Trout, Health Consultant at IWSA said

“Unlike traditional patient registries, participants can choose whether, when, and with whom to share our data, AND that we will get information back from the registry. Information such as how many registry participants have which conditions, have had which surgeries, which treatments, with what results.

Another critical goal is to make cross-disease research possible. This has been extremely difficult in the past, because most patient registries aren’t standardized. So their data can’t be combined with or compared to the data in any other registry. The CoRDS/IWSA Patient Registry was designed with the National Institutes of Health Office of Rare Disease Research. So it will be compatible with any other standardised rare disease patient registry in the world. Cross-disease research is especially important for aniridia/chromosome 11p disorders, because they are so rare, and because they are so clearly inter-related.

Finally, another difficulty with traditional registries is their siloed nature. Many are maintained by a single institution, and are accessible only to that institution’s researchers. The CoRDS/IWSA Patient Registry will allow access to any IRB-approved researcher (if the individual participant has specifically agreed to it). This will make the data not only more accessible to a greater number and scope of researchers, but much more likely to produce results as well.”

Veronica Van Heyningen

Veronica Van Heyningen

Retired genetics researcher and ANUK Patron Veronica Van Heyningen said “This is a very exciting new venture, because clinicians and scientists, as well as fellow patients can learn so much from hearing about the experiences of each affected individual.  Having many detailed cases together can reveal real trends which may then lead to clinical help”

For details read the CoRDS Patient Registry frequent asked questions and then fill out the initial registration form.

You will then be sent details of how to fill in questions relating to the following

  • Allergies, Behaviour, Birth History
  • Development
  • Ears, Nose, Throat, Metabolic System
  • Eyes: Vision & Treatment
  • Digestive System
  • Heart
  • Kidneys, Genitourinary Tract
  • Lungs, Brain, Oral/Dental
  • Orthopedics, Psychology, Sleep, Therapy
  • Well-being, Wilms Tumor
  • Associated Conditions,Common Data Elements

 

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About Aniridia Network UK

A charity support group for people with the genetic visual impairment aniridia and their families in the UK. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. Registered as a charity in 2011 with HMRC reference XT26830
This entry was posted in National Institute for Health WAGR study, Research and tagged , . Bookmark the permalink.

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