# Rare Disease Network for Myasthenia Gravis

> **NIH NIH U54** · GEORGE WASHINGTON UNIVERSITY · 2020 · $1,531,556

## Abstract

The goal of this proposal is to develop a RDCRC dedicated to myasthenia gravis (MGNet).
Myasthenia gravis has a well-defined pathophysiology of autoantibody-mediated injury to the
neuromuscular junction, but distinct sub-types exist with unique underlying pathophysiology and
patient needs. Therapies exist but patient care is compromised by an absence of a cure, poor
adverse effect profiles of treatments, highly variable response to existing treatments, and a poor
quality of life as reported by patients. Further, therapeutic development in the field is
compromised by a lack of adequate natural history data for all MG subtypes and a lack of
treatment responsive biomarkers. Despite a few rigorously performed clinical trials, the failure
of several phase 2 and 3 studies to support efficacy of drugs with validated biological targets
indicates that MG trials require improvements in design and outcome measures. These
challenges are made more difficulty by the existence of clinically and biologically distinct sub-
types. These groups are 1) early-onset acetylcholine receptor (AChR) antibody (Ab) positive
MG, which primarily affects women, 2) late-onset AChR Ab positive MG with a disease bias
towards men 3) paraneoplastic thymoma-associated MG, 4) muscle specific kinase (MuSK) Ab
positive, and 5) AChR/MuSK antibody negative MG. MGNet proposes the following Specific
Aims: 1) Enhance clinical trial readiness through rigorous prospective monitoring of patients to
define disease variability and refine clinical outcome measures. 2) Identify treatment-predictive
and -responsive biomarkers to enhance early-phase clinical trial performance and identify
suitable candidates for pivotal trials, improve monitoring in day-to-day clinical practice, and
provide potential therapeutic targets. 3) Enhance the pool of young investigators focusing their
careers on rare diseases and specifically MG. 4) Improve the awareness of scientists,
physicians, and lay public regarding the unique needs of patients with MG. Successful
achievement our objectives will establish a disease-specific infrastructure of biological samples
and best practices which will provide a unique resource for academics and industry for access
to biological samples for discovery purposes and development of clinical trials. During this
process we will train clinician scientists and engage the patient and scientific communities in
clinical research and therapeutic development.

## Key facts

- **NIH application ID:** 10005504
- **Project number:** 5U54NS115054-02
- **Recipient organization:** GEORGE WASHINGTON UNIVERSITY
- **Principal Investigator:** HENRY J KAMINSKI
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,531,556
- **Award type:** 5
- **Project period:** 2019-09-01 → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10005504

## Citation

> US National Institutes of Health, RePORTER application 10005504, Rare Disease Network for Myasthenia Gravis (5U54NS115054-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10005504. Licensed CC0.

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