Patients and families coping with undiagnosed rare medical conditions may experience unique challenges in accessing appropriate medical care and social support. Undiagnosed patients include those who are “not yet diagnosed” because they have not been referred to the appropriate medical specialist as well as patients who have a condition not previously described and for which a diagnostic test is not yet available.
Support for the undiagnosed is an important part of NORD’s mission. This includes advocacy on important public policies as well as educational outreach to medical professionals and students. In 2016, NORD collaborated with an international group of patient organizations to address the needs of undiagnosed patients. Read the final report and key recommendations.
Undiagnosed Rare Disease Registry
The National Organization of Rare Disorders (NORD)®, is pleased to announce the launch of the Undiagnosed Rare Disease Registry. The Undiagnosed Rare Disease Registry supports research on rare diseases and how they progress over time – natural history studies.
OVERVIEW OF RESEARCH STUDY
The primary aim of the Undiagnosed Rare Disease Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of undiagnosed rare diseases and the course and pace of those diseases over time.
This study aims to limit the diagnostic odyssey of individuals with undiagnosed rare diseases through:
- Building a community of individuals affected by undiagnosed rare diseases;
- Collecting relevant data regarding participant demographics, symptoms of concern and quality of life and;
- Informing researchers, clinicians and regulatory agencies.
The Undiagnosed Rare Disease Registry is more than a versatile online system that securely collects and stores data for medical research; it is a dynamic participant-driven resource that can empower and unite the undiagnosed rare disease community through shared knowledge. With the Undiagnosed Rare Disease Registry, participants not only can complete surveys about their own disease experiences, but also can learn about other participants’ experiences by viewing aggregated survey data. As the Undiagnosed Rare Disease Registry sponsor, NORD will ensure that data privacy and confidentiality are strictly maintained. Participation in the Undiagnosed Rare Disease Registry is free and voluntary, and participants may withdraw at any time.
The Undiagnosed Rare Disease Registry is a powerful opportunity for individuals with undiagnosed rare diseases and their family members to contribute directly to research that will enhance understanding of their undiagnosed rare disease, thus facilitating the development of new diagnostic and treatment options. Participation is especially vital given the rarity of these undiagnosed conditions – every patient experience is a unique and invaluable part of the natural history of undiagnosed rare disease.
Join at undiagnosed.iamrare.org
For further information, please contact [email protected]