National Registry for Ichthyosis and Related Skin Disorders
Frequently Asked Questions
What is a Registry?
People living with a rare disease are a critical component of the research process. Without patients and families voluntarily providing detailed insights into their rare disease, researchers may be missing information that is vital to unlocking scientific puzzles that may lead to new treatments. In the rare disease community, patient registries are especially valuable to gather this critical information because in most cases, very little is known about a particular condition.
The purpose of The Registry is to enroll people with ichthyosis to characterize their specific type of ichthyosis using defined descriptions, and to collect information about enrollees in order to advance understanding of the diagnosis, causes, and treatment of the disorders.
How is FIRST involved?
FIRST plays a pivotal role in The Registry. As a co-sponsor, FIRST is providing support and resources to ensure The Registry is managed, sustained, and utilized to its fullest capability. FIRST resources will support the principal investigator of The Registry, Dr. Keith Choate, and many of the functions in his laboratory at Yale University. FIRST will also allocate resources to encourage our members to enroll in The Registry and receive a genetic diagnosis. FIRST will also support outreach to research investigators and health organizations who specialize in ichthyosis and related skin types, to utilize The Registry's many benefits.
Why enroll in this registry?
A registry is the cornerstone to research. Investigators working within a certain track of medical research will have access to the patient data they need to experiment, discover, and achieve medical breakthroughs. Without patient registries, the process of scientific discovery in medical treatments can be slowed, halted, or even dismissed. Studies of these disorders may take years to finish, however if a cause is found, investigators may be able to develop better tests and treatments in the future. Participating in a registry is one of the most direct ways to participate in the future treatment and possible cures for your skin disorder.
What if I already enrolled in the Yale Disorders of Keratinization Research Project, can they use my information for The Registry?
Yes, however your file may need to be updated or more information may be needed. When contacting Yale for more information, be sure to inform them when you were tested and/or diagnosed.
Who can access The Registry?
Investigators from universities or pharmaceutical companies interested in ichthyosis can make an application to the registry. If the proposed study has appropriate protection for human subjects and is approved by the registry advisory committee, investigators will be permitted to contact enrollees to inform them of the study opportunity. Participation in future studies is optional and you can choose which, if any, studies to join. Your information will not be transferred to these investigators. The Registry will function solely to inform you of studies relevant to your skin condition.
If I have a diagnosis from another laboratory or institution, should I still participate in the Registry?
Yes. When contacting Yale for more information, be sure to inform them of where, when, and with whom you were diagnosed.
What does it cost to get diagnosed and be part of the registry? There is no cost for participating in The Registry. If you do not already have a laboratory diagnosis, Dr. Choate's lab will perform the DNA testing under his research funding at no cost to you/your insurance.
Do I need to travel to Yale University to participate?
We will work with you/your physician to obtain all relevant medical records and consents via email or fax. Any costs of shipping will be covered by us.
How do I get diagnosed and join The Registry?
To participate, please email the Registry’s Patient Coordinator at firstname.lastname@example.org. It’s a simple process and does not require traveling to Yale. A member of the team will promptly respond.