Improving Diagnosis and Treatment of Sarcoidosis

Using a blood or tissue biomarker to improve diagnosis and identification of a new targeted treatment.
Problem:
Sarcoidosis is an inflammatory disease that can affect any organ, predominantly the lung, skin, and the lymphatic system. Symptoms include difficulty breathing, extreme fatigue, skin inflammation, and joint pain. Sarcoidosis compromises patients’ quality of life and increases patient mortality. Even though the disease was identified in the late 1800s, confirmatory diagnostic tests and targeted treatments are still lacking.
Solution:
Identified novel biomarkers and targets for sarcoidosis via single-cell RNA sequencing and flow cytometry.
Technology:
Using single-cell RNA sequencing of affected and unaffected patient skin, the inventors identified that type 1 innate lymphoid cells (ILCs) were enriched in sarcoid skin. The affected skin also showed a significant increase in CXCR4 and CXCL12, which are a potent chemokine receptor and ligand, respectively, that function as homing agents for immune cells. Inhibition of CXCR4 with the FDA-approved CXCR4 inhibitor, Plerixafor, reduced granuloma formation in a mouse model of sarcoidosis.
Advantages:

Novel method to diagnose and to monitor sarcoidosis disease activity in blood or affected tissue.
Targeted therapy of sarcoidosis with reduced side effects.

Stage of Development:

Proof of concept in human skin biopsy and mouse model

Figure 1. Flow cytometry analysis of control (Ctrl) and sarcoid (Sar) blood for different ILC populations (NK cells not shown). *p<0.05. Figure 2. CXCR4 inhibitor (plerixafor) reduces lung granuloma formation (symptom of sarcoidosis) in relevant mouse model (n=3). *p<0.05.
Intellectual Property: