Patients & Families

Rare Disease

The Rare Disease Committee aims to improve understanding of rare autoimmune and autoinflammatory diseases. How can we help get patients diagnosed sooner? What’s the best way to follow and treat these conditions? How do these diseases change the way a body functions? What causes these diseases? Answering these questions in rare diseases is challenging and requires a strong collaborative effort. Through CARRA, doctors, patients and care givers from all over North America work together in planning and conducting research to discover the answers to these and many other questions.

Diseases in the Rare Disease Committee include scleroderma, vasculitis, CNO/CRMO, Sjögren’s, and several other autoimmune and auto-inflammatory diseases.  Some of these diseases occur predominantly in children, while others have different problems and issues than adult onset disease.

Currently, there are no FDA approved treatments for patients with these diseases. Research is urgently needed to improve our ability to care for children with these diseases.

Effort is ongoing in several areas including

  • developing tools to facilitate study of these diseases
  • developing and evaluating standardized treatment regimens to optimize treatment
  • identifying factors that affect treatment response to work towards personalized medicine
  • determining long-term issues and potential risk factors for developing these issues

There are 9 Rare Disease workgroups focused on conducting research in the areas listed below.

  • ANCA-associated vasculitis (AAV)
  • Autoimmune encephalitis and inflammatory brain diseases (AE)
  • Autoimmune immunodeficiency monogenic syndromes (AIM)
  • Chronic non-bacterial osteomyelitis (CNO/CRMO)
  • Kawasaki disease (KD)
  • Localized scleroderma (LS)
  • Periodic Fever, Apthous Stomatitis, Pharyngitis, and Adenitis (PFAPA)
  • Sjogrens syndrome
  • Systemic sclerosis (SSc)

"In the Land of Rare Disease"

This video was made to raise awareness for all children and adults living with rare disease in America.