CIMR Neuromuscular Research Biobank (NRB-0001)

Center for Inherited Muscle Research Neuromuscular Research Biobank

The purpose of this research repository is to collect, store, and share with other researchers any tissues that subjects with all types of neuromuscular disease are willing to donate. These samples will be stored at Virginia Commonwealth University (VCU) and will be used for future research with this population.

Study Overview

• Status: Recruiting
• Conditions: Neuromuscular Diseases; Neuromuscular Disorder; Neuromuscular Diseases in Children

Detailed Description

The study involves collection of medical information about research participants and their families. No identifying information about family members will be collected. Research participants will be asked for any general knowledge they have related to possible neurological disorders.

Research participants are also given the opportunity to provide blood, skin cells, urine, saliva, fecal matter, muscle tissue, cells, DNA and/or RNA samples.

Before any study procedures take place, the informed consent form will be provided and reviewed with potential research participants in detail. Potential research participants will have an opportunity to ask additional questions before starting any study procedures.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Nicholas Johnson; Phone Number: 804-628-1624; Email: nicholas.johnson@vcuhealth.org

Study Locations

• United States
  • Virginia
    • Richmond, Virginia, United States, 23298
      • Recruiting
      • Virginia Commonwealth University
      • Principal Investigator: Nicholas E. Johnson, MD
      • Contact: Carino Jennings; Phone Number: 804-828-1271; Email: carino.garza@vcuhealth.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 75 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

This is a very inclusive study that will allow samples from known subjects of sites' neuromuscular clinics, associated family members, and healthy volunteers. This study will include subjects with any form of neuromuscular disorder, including neuromuscular disorders of unknown etiology.

Description

Inclusion Criteria:

• Willing and able to give informed consent
• Positive diagnosis or suspected diagnosis of neuromuscular disease, or
• Family history of neuromuscular disease, or
• Healthy volunteer
• Age Neonates-75

Exclusion Criteria:

• Unwilling to sign consent

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To collect, store, and share with other researchers any tissues that subjects with all types of neuromuscular disease are willing to donate.	Subjects will have the opportunity to provide the following samples: saliva or cheek swab, urine sample (up to 15ml), feces (up to 2mg of a stool sample), blood (up to 40ml), muscle biopsy tissue, and cell line (subjects have the option to allow a cell line to be made from their blood, muscle, or skin biopsies to provide a renewable supply of DNA and other cell components for research)	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To collect medical history information from subjects with all types of neuromuscular disease and healthy controls.	Information will be collected from the subject medical records and will include care they have received in the past, are receiving now, or may receive in the future. Subject information may include name, age, gender, diagnosis, and other medical history information that may be beneficial to the research staff.	Baseline

Collaborators and Investigators

• Sponsor: Virginia Commonwealth University
• Investigators: Principal Investigator: Nicholas E. Johnson, MD, Virginia Commonwealth University

Study record dates

Study Major Dates

• Study Start (Actual): March 17, 2021
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): February 1, 2030

Study Registration Dates

• First Submitted: June 21, 2022
• First Submitted That Met QC Criteria: June 21, 2022
• First Posted (Actual): June 28, 2022

Study Record Updates

• Last Update Posted (Actual): July 4, 2025
• Last Update Submitted That Met QC Criteria: July 1, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: Biobank; Neuromuscular; Research Repository; Neuromuscular Disorder
• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases
• Other Study ID Numbers: HM20021172

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No