Immune Dysregulation in Pemphigus
Protocol: 030-456887
Full Title
Immune Dysregulation in Pemphigus
We are looking for adults with the rare diseases pemphigus or pemphigoid to participate in a research study. The purpose of this study is to investigate the genetic, molecular and immunological basis of disease development, flares and progression in Pemphigus and Pemphigoid.

You will be asked to be complete one session where you will undergo a blood draw and answer questionnaires.

Study visit takes place in Outpatient clinics of the Department of Dermatology at the University at Buffalo or the Dermatology Laboratory at the Clinical and Translational Research Center in downtown Buffalo.

Compensation is not available for this study.

Technical Description

The purpose of our studies is to investigate the genetic, molecular and immunological mechanisms relevant for the development and expression of human autoimmune diseases applying integrated systems medicine approaches. Our studies focus on Pemphigus vulgaris (PV), a life threatening blistering skin disorder. PV is an exceedingly rare disease with an estimated 30,000 to 40,000 cases in the US. However, large numbers of samples are necessary to get meaningful results using modern technologies like high throughput screening assays and next generational sequencing studies. Thus, we have established a continuously IRB-approved biorepository of samples collected from Pemphigus and Pemphigoid patients starting in 2001 at our previous institution Weill Medical College of Cornell University and continued at Michigan State University from 2005 - 2011. Five hundred and seventy-seven subjects (both patients and controls) have been enrolled since the inception of the biorepository. This number includes the 39 probands enrolled since the last renewal of this study in April 2014: i. 13 patients with Pemphigus vulgaris, ii. 11 patients with bullous Pemphigoid and iii. 15 healthy control subjects, most of which are family members of our patient population (to account for hereditary disease risk).

We continue to explore the immunological as well as genetic underpinnings of disease, and we continue to enroll more patients for next generational genetic analyses (in which patient population well over 200 up to 1000 are needed for statistically meaningful analyses). At this point we have developed one of the largest carefully phenotyped bio-repositories on Pemphigus vulgaris (including disease and non-disease control populations) and we plan to continue adding to this invaluable resource.
Compensation: No
Age 18+
Diagnosis of  pemphigus or pemphigoid
Age Group: Adults
Principal Investigator: ANIMESH SINHA
+1 716-842-2118
Want to Learn More?
Let us know how the study team can reach you. If you do not hear back within 2 business days, reach out to the study team directly at the contact information above or email and someone will assist you.