Objective

To gather patient insights regarding the clinical manifestations, treatments, and challenges associated with anti-MDA5 antibody-positive dermatomyositis (anti-MDA5-DM).

Background

• Idiopathic Inflammatory Myopathies (IIM): A group of autoimmune disorders characterized by muscle inflammation and systemic symptoms.

• Anti-MDA5-DM: A distinct subtype defined by hypomyopathic or amyopathic muscle disease, unique skin features, and a high risk of rapidly progressive interstitial lung disease (RP-ILD).

Methods

• An observational survey adapted from a juvenile dermatomyositis survey.

• Distributed via MSU’s platforms, targeting approximately 5000 IIM patients.

• 46 participants responded between December 8, 2022, and January 11, 2023;

Conclusions

1. Unique Clinical Features and Implications:

   • Anti-MDA5-DM exhibits unique and atypical cutaneous manifestations, such as cutaneous ulceration, palmar papules, and mechanic hands, which can lead to diagnostic and treatment delays.

   • The association of anti-MDA5-DM with rapidly progressive interstitial lung disease (RP-ILD) highlights the necessity for increased clinician awareness and early intervention.

2. Patient Support and Research Contributions:

   • Patient support groups and organizations, such as Myositis Support and Understanding (MSU), play a crucial role in increasing clinical awareness and research efforts for rare disorders like anti-MDA5-DM.

   • The study utilized a patient-led approach to gather data, emphasizing the importance of patient perspectives in understanding the disease and informing clinical practices.

3. Survey Findings and Demographics:

   • The survey indicated a higher proportion of female respondents and a notable incidence of diagnosis within the 40-59 age range.

   • The survey captured a wide range of diagnostic tests and therapies, reflecting variability in clinical management.

4. Barriers to Clinical Trial Participation:

   • Significant barriers to clinical trial participation were identified, which can inform future trial designs to improve recruitment and accurately assess therapeutic interventions.

5. Future Research Directions:

   • The findings underscore the need for further studies to better characterize anti-MDA5-DM and other dermatomyositis subtypes.

   • Incorporating patient voices in research is essential for addressing unmet needs and advancing clinical knowledge and treatment approaches .

Keywords from the Article

These keywords encapsulate the core focus areas and themes explored in the study on anti-MDA5 antibody–positive dermatomyositis.

• Anti-MDA5 antibody, Dermatomyositis (DM), Idiopathic Inflammatory Myopathies (IIM), Myositis, Rapidly progressive interstitial lung disease (RP-ILD), Rare Autoimmune diseases, CADM, pain,