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## Overview

#### Senior Investigator

Andrew Mammen, M.D., Ph.D. 

andrew.mammen@nih.gov

#### Research Areas (IRP Lab Groups)

Clinical Research

Immunology

Muscle Biology

The Muscle Disease Section focuses its research on myositis, a rare family of autoimmune diseases in which the body's immune system attacks healthy muscle tissue, causing inflammation, weakness, fatigue, and pain in skeletal muscles. Problems that affect the skin, lungs, and joints often accompany myositis. 

### Research Focus:

                          - Dermatomyositis, which can include a skin rash.
                          - The anti-synthetase syndrome, which can include a rash, lung disease, and arthritis.
                          - Inclusion body myositis, which typically affects the muscles of older adults. 
                          - Immune-mediated necrotizing myopathy, which can cause especially severe weakness in children and adults alike.

### Lab Goals: 

                          - Define the different subtypes of autoimmune muscle disease based on muscle histology, autoantibodies, and other biomarkers.
                          - Describe the role of myositis autoantibodies in the pathogenesis of myositis. 
                          - Develop animal models of myositis that are relevant to human diseases.
                          - Understand how environmental exposures, including medications such as statins and cancer immunotherapies, can trigger autoimmune muscle disease. 
                          - Use novel therapeutic strategies to treat myositis patients at the NIH Clinical Center.

In 2007, while on the faculty at Johns Hopkins, Dr. Mammen co-founded the Johns Hopkins Myositis Center. This group discovered a form of immune-mediated necrotizing myopathy triggered by statins, a medication used to lower cholesterol concentrations (*Arthritis Rheum* **63:**713–721, 2011). This disease occurs in approximately **1 in 50,000** Black and white Americans exposed to statins. However, working with colleagues in New Mexico, they found that around **1 in 300** members of the Navajo Nation may develop this form of myositis if exposed to statins (*Arthritis Rheum* 2022; DOI:10.1002/art.42126; online ahead of print). Dr. Mammen's research continues to investigate why some people can safely use statins while others have an increased risk of developing myositis and should avoid this cholesterol-lowering medication.

#### Related NIAMS Labs

                                    - Laboratory of Muscle Stem Cells and Gene Regulation

#### Scientific Advances

June 1, 2023

New Subsets of Immune Checkpoint Inhibitor Induced Myositis Identified by RNA Profiling

May 2, 2023

The Direct Binding of Anti-Mi2 Autoantibodies to Their Antigen Is Key to the Pathogenesis of Anti-Mi2 Dermatomyositis

February 5, 2023

Evaluation of Zilucoplan Use in Immune-Mediated Necrotizing Myopathy

August 25, 2022

Identification of Biomarkers in Dermatomyositis Patients with Lower Cancer Risk

August 12, 2022

Unlike in Adults, Anti-FHL1 Autoantibodies Are Not Associated with Severe Disease Symptoms in Juvenile Myositis

#### Core Research Facilities

Labs at the NIAMS are supported by the following state-of-the-art facilities and services:
                                        - Biodata Mining and Discovery
                                        - Flow Cytometry
                                        - Genomic Technology
                                        - Laboratory Animal Care and Use
                                        - Light Imaging
                                        - Translational Immunology

## Staff

**Andrew Mammen, M.D., Ph.D. **

andrew.mammen@nih.gov 

**Maria Casal-Dominguez, M.D., Ph.D.**

maria.casal-dominguez@nih.gov

**Sandra Muñoz-Braceras, Ph.D.**

sandra.munozbraceras@nih.gov

**Jon Musai, B.S.**

Jon.musai@nih.gov

**Katherine Pak, M.D.**

katherine.pak@nih.gov

**Iago Pinal-Fernandez, M.D., Ph.D.**

iago.pinalfernandez@nih.gov

## Former Lab Members

### Postdoctoral Fellows

                                - Jose Milisenda, M.D., Ph.D., 2021-2022
                                - Jiram Torres Ruiz, M.D., 2021-2022
                                - Angela Quintana Vega, Ph.D., 2020-2021
                                - Hilal Cevik, M.D., 2019 (2 months)
                                - Albert Gil Vila, M.D., 2019 (3 months)
                                - Benjamin Plotz, M.D., 2018 (1 month)
                                - Sara Sabbagh, D.O., 2017-2019

### Pre-doctoral Fellows

                                - Bianca Campbell, 2022 (two months)
                                - Rose Graf, 2018-2019
                                - Rebecca De Lorenzo, 2017
                                - Richard Yeker, 2016-2018
                                - David Amici, 2016-2017
                                - Cassie Parks, 2015-2017
                                - Wilson Huang , 2014-2016

### Clinical Fellows

                                - Matthew Sherman, 2021-2023

## Clinical Trials

Recruiting

### Natural History of Inflammatory Muscle Diseases

ClinicalTrials.gov Identifier: NCT05738824

This is an observational study to characterize the different types of inflammatory myopathies, understand their etiology, pathogenesis, prognosis, and response to different treatments. 

Recruiting

### Studies on the Natural History and Pathogenesis of Polymyositis, Dermatomyositis, and Related Diseases

ClinicalTrials.gov Identifier: NCT00001265

This study of inflammatory muscle diseases-polymyositis and dermatomyositis and related disorders-will examine what causes these diseases and describe the clinical features (signs and symptoms) associated with them. Inflammation and degeneration of skeletal muscles in these disorders leads to weakness and muscle wasting. The skin, lungs and other organs may also be involved.

## Scientific Publications

## Selected Recent Publications

###             Nailfold capillaroscopy findings of a multicentric multi-ethnic cohort of patients with idiopathic inflammatory myopathies.        

42(2).

###             Myositis-Associated Autoantibodies in Patients With Juvenile Myositis Are Associated With Refractory Disease and Mortality.        

###             Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies.        

82(8).

###             Zilucoplan in immune-mediated necrotising myopathy: a phase 2, randomised, double-blind, placebo-controlled, multicentre trial.        

5(2).

###             Autoantibodies Recognizing Specificity Protein 4 Co-occur With Anti-Transcription Intermediary Factor 1 and Are Associated With Distinct Clinical Features and Immunogenetic Risk Factors in Juvenile Myositis.        

75(9).

###             Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis.        

82(6).

###             Coordinated local RNA overexpression of complement induced by interferon gamma in myositis.        

13(1).

###             The pattern of MHC class I expression in muscle biopsies from patients with myositis and other neuromuscular disorders.        

62(9).

###             Clinical Subgroups and Factors Associated With Progression in Patients With Inclusion Body Myositis.        

100(13).

###             Coexisting autoantibodies against transcription factor Sp4 are associated with decreased cancer risk in patients with dermatomyositis with anti-TIF1γ autoantibodies.        

82(2).

###             Anti-FHL1 autoantibodies in juvenile myositis are associated with anti-Ro52 autoantibodies but not with severe disease features.        

62(SI2).

###             Increased risk of statin-associated autoimmune myopathy among American Indians.        

74(9).

## Key Publications

###             Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis.        

79(9).

###             Identification of distinctive interferon gene signatures in different types of myositis.        

93(12).

###             Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1.        

78(1).

###             Statin-Associated Autoimmune Myopathy.        

374(7).

###             Intravenous Immune Globulin for Statin-Triggered Autoimmune Myopathy.        

373(17).

###             Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy.        

63(3).

See all Publications on PubMed

## News & Highlights

NIH News in Health | June 6, 2022

### Understanding Autoimmune Diseases

Read More

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