Despite recent advances in therapy, there is still no cure for pemphigus. All doctors can do for their patients at this point is to keep their immune systems at bay, in some cases more successfully than others. Clearly, more research is needed into the underlying factors of disease development and progression to really understand disease mechanisms and ultimately — hopefully — find a cure for autoimmune blistering conditions.
Our laboratory has been trying to answer questions regarding PV epidemiology, genetics, and immune function for over 15 years, and many of you have already participated in our studies. However, in order to get meaningful results using modern technologies like high-throughput screening assays and next-generation sequencing studies, large numbers of patients and healthy control subjects are needed. As you know by now, you are afflicted with an exceedingly rare condition (it is estimated that there are only thirty to forty thousand cases of pemphigus vulgaris in the United States, compared to 1.25 million Americans living with the autoimmune type of diabetes). That is why it is important for us to enroll as many patients in our studies as we can, both in our own clinics and at the IPPF annual meetings. Also, it is important to follow patients longitudinally (repeatedly over time) to investigate how disease progresses. That is why we will sometimes ask you to donate more than once throughout the course of your condition.
What is my blood used for?
If you decide to participate in our studies, we will ask you to sign a consent form and will typically draw three or four tubes of blood (that is about 20-25 ml, or less than 2 tablespoons). We will also ask you questions about your condition (disease activity, course, treatment) and your own, as well as your family’s, history of autoimmunity. You will be assigned a study identification (ID) number, and your information will be kept strictly confidential. From this point onward, your samples will only be identified by study ID. Your personal data will never be used in any communications and publications unless you instruct us to do so.
We will take your samples to our laboratory where we extract DNA for genetic and genomic studies, RNA for gene expression studies, and serum to analyze your autoantibody profiles. All samples that are not immediately used for our analyses are stored frozen in our large biorepository and can be used in future studies when needed.
While we get some data fairly quickly on your genetic susceptibility and antibody levels, most results are only meaningful if compared to data from many additional patients. It may take years for us to fully complete all follow up studies and to publish the data in the scientific literature. We do hope that, ultimately, our studies will shed some light on why you develop disease and how we can better treat it. We also hope that our scientific colleagues, both present and future, will be able to learn from our findings as much as we learn from theirs.
Why is it important for my blood relatives to donate blood, too?
PV is a multifactorial disease with a complex interaction of genes, the immune system, and the environment. While no single factor has been found that will predispose you to develop disease, it is clear that the vast majority of patients carry certain human leukocyte antigen (HLA) alleles, proteins or markers that are found on certain white blood cells that play a key role in immune and autoimmune activation. Interestingly, many family members that have not developed and never will develop disease carry the same HLA risk molecules.
Our group is very interested in exploring how family members who express the pemphigus-associated disease risk alleles (and also family members who do not express these alleles) compare to their relatives who do have the disease. We compare family members using measures such as other genes that may or may not be expressed, autoantibody levels, cytokine levels, and epidemiological data (for example, presence of other autoimmune diseases in the patient’s history). We hope that exploring these additional populations will ultimately help us understand how the immune system protects itself from developing autoimmunity.
How can I donate?
Many of you have asked the IPPF how you or your blood relatives can donate. If you are not a patient of our team or cannot meet us at the IPPF Patient Conference, the best way is to get in touch with us via email or phone using the contact information below and indicate the nature of your diagnosis and whether you or your blood relatives would like to donate blood. We will then send you a kit with the required supplies, blood drawing tubes, and instructions. You will need to find a place and a professional for the blood draw. Those of you in the medical field may know a nurse or phlebotomist; others can ask their primary physician to draw the tubes. Once the blood has been drawn, it will need to be sent back to us overnight in our prelabeled, prepaid shipping box (UPS) so that we can store the blood under the proper conditions.
We are grateful for every patient and family member who becomes a participant in our studies. We could not do our work without the commitment and support of people like you! ippf