Very early Intervention through RNA analysis on Leukocytes in Scleroderma

Study code

Lead researcher
Francesco Del Galdo

Study type
Participant re-contact

Institution or company
Chapel Allerton Hospital

Researcher type

Speciality area
Genomics and Rare Diseases


Systemic Sclerosis (SSc) is a rare autoimmune disease affecting connective tissues, namely the skin, the heart, the lungs, the gastrointestinal tract, and the kidneys through a damage of the small and medium blood vessels resulting in irreversible fibrosis of these tissues.

Early symptoms of SSc, such as Raynaud’s Phenomenon, characterised by the transitory constriction of the blood vessels in the fingers and the toes, resulting in them turning white, then blue and painful or numb. This can unpredictably progress in some patients and involve other vital organs, leading to life-threatening manifestations. However, early symptoms remain stable in other subjects, causing little or no damage.

The aim is to shed light on the molecular characteristics of the immune cells within the blood of early patients that do not have organ damage. This can in turn highlight any early feature that predicts whether the disease is progressing towards SSc. The patients for this study were recalled from the Systemic Sclerosis (SSC) cohort at the Rare Diseases BioResource.

In other studies, it has been shown that about 50% of early patients’ progress to have SSc within 3 years. Hence, using the gathered data and the patients’ natural history, this study can be the first to help detect SSc progression through a simple blood test.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.