• Research

  • Research

  • Research

  • Research

  • Research

Our goal is to find treatment by funding targeted research and support studies that pave the way for regulatory approval.

Active Research Studies
Use of Abnormal Protein Expression to Improve Prognostication and Treatment Study Design in Nemaline Myopathy

Analyze protein expressions in 5 mouse models (ACTA and NEB) to better understand process and compare to each other and human NM for future therapeutic suitability.

Institution: Medical College of Wisconsin
Investigator: Michael Lawlor, MD

Targeting Kelch-Regulated Pathways to Develop Therapies in Nemaline Myopathy

High throughput drug screening in kelch knockout myoblasts. Proteasome upregulation in zebrafish.

Institution: Brigham and Women’s Hospital
Investigator: Vandana Gupta, MD

Improving Myosin Function to Treat Nemaline Myopathy

Deliver gene for myosin light chain isoform via AAV to mice.

Institution: King’s College London
Investigator: Dr. Julien Ochala

CMD-Tissue Repository

Funding to support the operation and expansion of the CMD-TR

Institution: Medical College of Wisconsin
Investigator: Michael Lawlor, MD

Diaphragm Contractility in Patients with Nemaline Myopathy

Study diaphragm function, assess exercise effect on diaphragm function, and assess effects of tirasemtiv.

Institution: VU University Medical Center
Investigator: Coen Ottenheijm, PhD, Baziel van Engelen and Jonne Doorduin

A Chemical-Biology Approach to Myofibril Stress Signaling: Zebrafish Component

Testing the most promising candidates in two zebrafish models of NM.

Institution: Children’s Hospital Boston & Harvard Medical School
Investigator: Alan Beggs, PhD

Pre-Clinical Evaluation of the FDA Drug Collection

Test FDA approved drugs on zebrafish then test promising ones on mice

Institution: Monash University
Investigator: Robert Bryson-Richardson,Tamar Sztal, Nigel Laing and Kristen Nowak

CRISPR/Cas9 Gene Editing: A Novel Therapeutic Strategy for Nemaline Myopathy

Reintroduce exon 55 in cell culture and then mouse models

Institution: Hospital for Sick Children
Investigator: James Dowling, MD, PhD and Hernan Gonorazky, MD

A Chemical-Biology Approach to Myofibril Stress Signaling

Work with Beggs (zebrafish) and Sweeney (mouse) to test small molecule that attenuates muscle stress in diaphragm.

Institution: Medical Faculty Mannheim
Investigator: Siegfried Labeit, MD, PhD, Alan Beggs, PhD and Lee Sweeney, PhD

Modulating Myosin to Improve Muscle Strength in Nebulin-Based Nemaline Myopathy

Increase myosin force generation by gene therapy and myosin activator that targets slow myosin.

Institution: University of Arizona
Investigator: Johan Lindqvist, PhD

Are you a scientist?

We need you to research Nemaline Myopathy.

We are glad to assist you by connecting you with others in the field and provide you with background information and resources to guide you with the grant proposal process.

Resources for Scientists