Natural History Studies

Natural History Studies are observational studies that are used to further our understanding of a disorder. Below is a list of our current and upcoming Natural History Studies. For more information, the University of Utah Department of Neurology Clinical Trials Office has put together an informational page here. The University of Utah Health Care System has more information here.

All Neuromuscular Diseases

Muscular Dystrophy Surveillance, Tracking, and Research Network MD STARnet – Neuromuscular disease data collection.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Caren Trujillo, 801-585-0892

Study Sponsor – CDC Grant

Banking DNA, Muscle, Skin or Blood for the Study of Inherited Neurological Diseases (DMS-BIND) – DNA, muscle, skin, and blood banking study.

Principal Investigator – Russell Butterfield, MD, PhD

Study Coordinator – Missy Dixon, 801-585-7606

Study Sponsor – Grant

Charcot-Marie Tooth

A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C – Natural History Study.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Tara Newcomb, 801-581-3551

Study Sponsor – Grant

Facioscapulohumeral Dystrophy

Rasch-analysis of Clinical Severity in FSHD (ROC-FSHD) – Standardization of FSHD clinical severity scale.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Mary Pautler, 801-585-9717

Study Sponsor – Grant

Myotonic Dystrophy

HELP-DM Health Endpoints and Longitudinal Progression of Myotonic Dystrophy – Natural History Study.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Caren Trujillo, 801-585-0892

Study Sponsor – Grant

Myotonic Dystrophy (Congenital)

HELP-CDM Health Endpoints and Longitudinal Progression of Congenital Myotonic Dystrophy – Natural History Study.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Becky Crockett, 801-585-1676

Study Sponsor – Grant

Pompe

Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (IPANEMA Study) – Prevalence study of Pompe Disease.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Caren Trujillo, 801-585-0892

Study Sponsor – UC Irvine

Spinal Muscular Atrophy

SMA Natural History – Natural History Study.

Principal Investigator – Nicholas Johnson, MD

Study Coordinator – Tara Newcomb, 801-581-3551

Study Sponsor – Grant