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Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.
Clinical Trials6 registered · 4 recruiting
Diagnosis
Biomarker and diagnostic research for mixed connective tissue disease has been reported in the published literature.
Prognosis
Estimated prevalence: 1-9 in 100,000 (Uncommon).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
6 clinical trials registered, 4 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE2, 2 NA. Research is primarily sponsored by academic and government institutions.
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Rheumatology-based Adaptive Intervention for Social Determinants and Health Equity
NA
Brigham and Women's Hospital
ACTIVE_NOT_RECRUITING
162 publications have been identified in PubMed for mixed connective tissue disease. Kisho has analyzed 53 by research type. Research spans Review / Meta-Analysis (45%), Case Report / Case Series (19%), and Epidemiology / Natural History (13%).
A systematic literature review highlights the importance of early detection and treatment initiation in improving long-term health outcomes for patients with connective tissue disease-associated pulmonary arterial hypertension. Expert consensus emphasizes the need for enhanced screening protocols.
A recent study highlights the complexities of managing scleroderma renal crisis and associated cardiac complications in a young patient with mixed connective tissue disease (MCTD). The case emphasizes the need for further research into the implications of anti-U3 RNP and anti-RNA polymerase III antibodies.
A recent case report highlights the use of anifrolumab in treating mixed connective tissue disease with autoimmune cytopenia. This narrative review discusses its potential therapeutic benefits, contributing to the understanding of treatment options for this rare condition.
The large dose of brepocitinib, a JAK1/TYK2 inhibitor, showed benefits on a composite score and secondary end points. The FDA has set a PDUFA date for the drug in the third quarter of 2026, according to its developer. Close to 10% (9.95) of the patients randomly assigned to the 30-mg dose of brepocitinib experienced a serious infection during the yearlong trial, compared with 2.5% of the patients assigned to the 15-mg dose and 1.3% in the placebo group. Vleugels noted that brepocitinib was “layered on” other treatments. “For those who are experts in dermatomyositis, this would be something we would expect. The more therapies you lay on, you have to be mindful of infections,” she said. The primary end point was a composite of six measures of myositis activity called the Total Improvement Score. Vleugels said that score has been used in other studies of treatments for dermatomyositis and that it encompasses both the muscle and skin aspects of the disease. The trial design called for a treatment period of 52 weeks. “If you had asked me when I started practicing almost 20 years ago if we would ever have a pivotal Phase 3, global, randomized controlled trial in dermatomyositis, I don’t know if I would have believed it,” co-lead author · Ruth Ann Vleugels, M.D., M.P.H., MBA, a professor of dermatology at Harvard Medical School and director of Connective Tissue Disease Clinics at Harvard-affiliated Brigham and Women’s Hospital, said in an interview with Managed Healthcare Executive. Brepocitinib, the agent assessed in the trial, is an oral drug that inhibits Janus kinase 1 (JAK1) and tyrosine kinase 2 (TYK2), a duality that explains its efficacy because it stifles multiple cytokines implicated in the pathogenesis of dermatomyositis in addition to interferon 1 and 2, Vleugels said. The FDA has put brepocitinib in a category that is supposed to mean a speedier review process. Priovant Therapeutics, the Durham, North Carolina, company that developed brepocitinib, says its product has a Prescription Drug User Fee Act (PDUFA) date — the date on which the FDA is supposed to make a decision on whether to approve a drug — in the third quarter of this year.
