RNA-Editing Tool Corrects Collagen Deficit in Severe Blistering Disorder

MedicalResearch.com Interview with:
http://www.proqr.com/team-and-boards/Daniel de Boer
Founding Chief Executive Officer
ProQR

MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by dystrophic epidermolysis bullosa?

Response: Dystrophic epidermolysis bullosa (DEB) is caused by a mutation in the COL7A1 gene which is responsible for the formation of a protein called type VII collagen (C7). This protein helps bind the inner and outer layers of the skin together. Mutations in one part of COL7A1 gene, exon 73, are the most common cause of DEB resulting in a non-functional C7 protein. ProQR’s QR-313 is designed to skip exon 73 of the COL7A1 gene, leading to a shortened C7 protein called C7Δ73. The current studies are intended to determine whether C7Δ73 functions the same as normal C7 protein. This mechanism can hopefully restore normal skin function for DEB patients.

DEB is a rare genetic skin disease characterized by easy blistering of the skin, poorly healing wounds and skin infections. DEB is present at birth and in severe cases leads to skin cancer, which can significantly reduce a patient’s lifespan. There are currently no treatments for DEB that target the underlying cause of the disease. The current standard of care consists of expensive time-consuming wound care, antibiotics to prevent infection and pain medications. As a result, this disease presents a huge burden to the patients themselves, as well as people who help with daily care.

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Low Risk of Pneumocystis Pneumonia in Autoimmune Blistering Diseases

MedicalResearch.com Interview with:

Kyle T. Amber, MD Department of Dermatology UC Irvine Health  Irvine, CA 92697

Dr. Amber

Kyle T. Amber, MD
Department of Dermatology
UC Irvine Health
Irvine, CA 92697 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Patients with autoimmune blistering diseases often requires significant immunosuppression in order to control their diseases. Pneumocystis pneumonia is an opportunistic infection that occurs in immunocompromised patients.  This study was borne out of my observation that most European experts in the treatment of autoimmune blistering disease did not give routine prophylaxis for pneumocystis. Among American dermatologists, there was far more disagreement. This was a collaborative effort of several international tertiary care centers. We demonstrated that the incidence of pneumocystis in 801 patients with autoimmune blistering disease was only 0.1%, which fell well below previous recommendations in the literature suggesting an incidence of 3.5% in order to justify prophylaxis.

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Pemphigus Incidence Much Higher Among Jews Than Arabs in Northern Israel

MedicalResearch.com Interview with:

Khalaf Kridin, MD Department of Dermatology Rambam Health Care Campus Haifa Israel

Dr. Khalaf Kridin

Khalaf Kridin, MD
Department of Dermatology
Rambam Health Care Campus
Haifa Israel

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Pemphigus shows an uneven geographic and ethnic distribution. A high incidence of pemphigus was observed in some ethnic groups, namely Ashkenazi Jews and those of Mediterranean origin. This observation has been shown to be strongly related to several HLA-class II genes; HLA-DRB1*04 and HLA-A*10 which have been more frequently found among Ashkenazi Jewish pemphigus patients. We sought to estimate trends in the incidence of pemphigus in northern Israel in the years 2000-2015, in relation to the major ethnic groups who inhabit the same geographic area and exposed to the same environmental elements.

The overall estimated incidence of pemphigus in northern Israel was 7.2 per million inhabitants per year (95% CI, 6.2-8.3). The incidence in the Jewish population was 3-fold higher than that in Arabs; 9.6 vs. 3.2 cases per million per year, respectively, p<0.0001), and higher among women than men; 9 vs. 5.3 cases per million per year, respectively, p<0.0001). Patients of Arab ancestry tend to present with the disease at earlier age, in line with observations from Arab and Mediterranean countries.

A declining trend in the incidence of pemphigus throughout the last 16 years in northern Israel was observed.

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