Scleroderma, also called systemic sclerosis (SSc), is a rare, progressive autoimmune connective tissue disorder with no cure. It causes inflammation in the skin and other parts of the body and triggers the immune system to produce excess collagen, which leads to hardening and tightening of skin and tissue (i.e., fibrosis).
It is a heterogeneous disease that affects all patients differently, manifesting as limited (i.e., progressing more slowly) and diffuse (i.e., more advanced). The average age of disease onset is 30–50 years, and four out of five patients with scleroderma are women, according to the Scleroderma Research Foundation (SRF). The Johns Hopkins University, host to one of several designated scleroderma research and treatment centres in the United States (US), notes that approximately (~) 300,000 people in the US have been diagnosed with scleroderma, and ~10,000 die from the most serious forms of the disease each year.
The US Food and Drug Administration (FDA) has increased its focus on specific disease areas, including rare diseases, and has been seeking input on what patients are hoping for when considering treatment options. Recognising the value of gathering patient input, the agency hosted several disease-specific patient-focused drug development (PFDD) public workshops after the passage of the fifth reauthorisation of the Prescription Drug User Fee Act (PDUFA V). In October 2020, the FDA held one such workshop to obtain patients’ perspectives on scleroderma, including effects on their health and well-being that most impact daily life and their experiences using prescription medical treatments and other treatments or therapies. Presentations at the meeting provided an overview of scleroderma, including the pathogenesis of the disease, which is not fully understood. However, over the past few decades, progress has been made in understanding its pathogenesis, which includes vascular involvement or vasculopathy (e.g. Raynaud’s phenomenon), dysregulation of the immune system, and fibrosis in the skin, musculoskeletal system, and internal organs (e.g., lungs, heart, kidneys).
Treatments generally address the symptoms of scleroderma and do not target the underlying cause of the disease. Typical therapies include proton pump inhibitors for digestive symptoms, medications to prevent organ rejection and/or treat arthritis (e.g., immunosuppressants), corticosteroids for skin and arthritis symptoms, blood pressure medications, and pain relievers. None of these treatments reverse the disease or halt its progression.
