Northwestern Neuromuscular Disease Biorepository

The primary objective of this research is to collect clinical data and tissue samples from adult patients with neuromuscular disease cared for at the Northwestern Memorial Hospital neuromuscular clinic (Lavin Building, 19th floor).

This study has the following aims:

Aim 1: To consent a large cohort of adult study participants with neuromuscular disorders, including but not limited to motor neuron diseases, neuropathies, neuromuscular junction disorders, and myopathies for participation in the biorepository and to collect longitudinal data on their clinical disease phenotypes.

Aim 2: To obtain and store biological samples from biorepository study participants, including whole blood, plasma, serum, peripheral blood mononuclear cells [PBMCs], skin biopsies, and cerebrospinal fluid.

Aim 3: To develop a data-sharing process to provide de-identified biorepository participant clinical data and samples to partnered investigators to expedite discovery in neuromuscular disease diagnosis and treatment.

Study Overview

• Status: Recruiting
• Conditions: Neuromuscular Diseases (NMD)

Detailed Description

Northwestern University and the associated Northwestern Memorial Hospital serve a nexus of clinical care and translational research in neuromuscular disease. A significant opportunity exists within the division to develop a robust Neuromuscular Disease Biorepository (NDB) in which carefully-phenotyped patient biofluid samples are catalogued and made readily available to partnered basic and translational scientists both within and outside of the Northwestern academic community.

The overarching hypothesis underpinning the Northwestern Disease Biorepository is that longitudinally sampled participant biosamples paired to refined clinical and paraclinical phenotypic data will accelerate basic and translational scientific discovery both locally at Northwestern and ultimately in the larger research community. This is imperative in the world of neuromuscular disease, where effective treatments are emerging yet all too rare, and understanding of disease mechanisms is still in a fledgling state for most conditions.

Procedures:

A possible participant will be identified by minimal risk screening activities by the biorepository principal investigator or delegated co-investigators. Screening activities include routine chart review including clinical notes, laboratory and radiologic investigations, pathology reports, and completed genetic testing. After a possible participant has been identified, they will be consented by a biorepository investigator using the IRB-approved informed consent form (ICF). Consented participants will then complete a clinical data questionnaire (IRB-approved data collection tool) specifically designed to allow biorepository investigators to rapidly and accurately phenotype the wide-spectrum of neuromuscular disease encountered in routine clinical care. Blood samples will be obtained by trained repository staff. Blood samples will be routinely processed into plasma and serum; additional processing for RNA extraction and peripheral blood mononuclear cells will be completed at the investigator's discretion. Cerebrospinal fluid (CSF) sampling is optional; Lumbar puncture will be completed by a qualified investigator as described in the NU IRB protocol. CSF samples can also be obtained in the event of an indicated lumbar puncture during routine clinical care or as an adjunct to other ongoing studies within the NU/NM neuromuscular division where permitted by the specific study protocol. Clinical data questionnaires and samples will be obtained every six months where feasible.

To obtain access to biorepository samples, an interested research group must contact a biorepository investigator and provide a scientific proposal describing their hypotheses and specific use of provided biosamples. Requests will be sent to the PI Dr. Donaghy at Ryan.Donaghy@nm.org. Requests will be approved by the protocol detailed in the Biorepository Scientific Validity Review Committee Standard Operating Procedure (SVRC SOP). Unless a requesting research group has already received an IRB approved proposal that allows for sharing of protected health information (PHI) by HIPAA rules, research samples will be provided without any of the 18 established PHI content as described in the SOP. The provision of non-PHI-containing research materials to requesting researchers is approved by Northwestern University-IRB.

• Study Type: Observational
• Enrollment (Estimated): 2500

Contacts and Locations

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Recruiting
      • Northwestern University Department of Neurology
      • Contact: Ryan Donaghy, MD; Phone Number: 312-503-3936; Email: ryan.donaghy@nm.org
      • Contact: Phone Number: 6108062029; Email: ryan.donaghy@nm.org
      • Principal Investigator: Ryan Donaghy, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Neuromuscular Diseases

Description

Inclusion Criteria:

• Undergoing evaluation for or diagnosed with a neuromuscular disorder, including but not restricted to motor neuron diseases (MNDs), neuropathies, neuromuscular junction disorders, and myopathies as a patient under the care of a provider in the Northwestern Neuromuscular Division
• Provision of signed and dated informed consent form personally or via legally authorized representative (LAR) [SOP: HRP-013] in accordance with Good Clinical Practice (GCP), International Conference on Harmonization (ICH), and local regulations.

Exclusion Criteria:

• History of a bleeding disorder or current treatment with anticoagulants (e.g., Coumadin, heparin) in participating study participants that would preclude collection of CSF or skin biopsies for these sub-studies.
• History of keloid formation for study participants who will undergo skin biopsy.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biospecimen Samples	This is a longitudinal registry of biofluid samples paired to categorized clinical data ultimately used to provide sample to partnered basic scientists and accelerate discovery in neuromuscular medicine.	50 years

Collaborators and Investigators

• Sponsor: Northwestern University

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2026
• Primary Completion (Estimated): March 1, 2050
• Study Completion (Estimated): March 1, 2050

Study Registration Dates

• First Submitted: March 12, 2026
• First Submitted That Met QC Criteria: March 12, 2026
• First Posted (Actual): March 17, 2026

Study Record Updates

• Last Update Posted (Actual): May 26, 2026
• Last Update Submitted That Met QC Criteria: May 21, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases
• Other Study ID Numbers: STU00224347

Plan for Individual participant data (IPD)

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

Drug and device information, study documents

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