Northwestern Neuromuscular Disease Biorepository

NCT07477509 | Recruiting

• 1 other identifier: STU00224347
• Study Type: observational
• Target: 2,500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neuromuscular Diseases (NMD)

Outcome Measures

Primary Outcomes (1)

• Biospecimen Samples

  50 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Neuromuscular Diseases

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Northwestern University: lead

Study Sites (1)

Northwestern University Department of Neurology

Chicago, Illinois, 60611, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood Whole blood will be collected for extraction of: 1. Plasma - 10 ml of whole blood by venipuncture collected into one EDTA tube at each study encounter and then processed into plasma aliquots and whole blood pellet 2. Serum - 10 ml of whole blood by venipuncture collected into one SST tube at each study encounter and then processed into serum aliquots and whole blood pellet 3. RNA - 2.5 ml of whole blood by venipuncture collected into one Qiagen Pax-gene RNA tube at each study encounter 4. Peripheral Blood mononuclear cells: 10 ml of whole blood by venipuncture collected into one EDTA tube at the initial study encounter only Total venipuncture whole blood volume: 32.5 ml at first visit, and 22.5 ml at subsequent visits Cerebrospinal fluid (CSF) CSF will be collected via a lumbar puncture (LP) for study participants who consent to a lumbar puncture. Skin biopsy For study participants that consent to a skin biopsy, up to three small (3 mm) punch biopsies will be performed

MeSH Terms

Conditions

Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Nervous System Diseases

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Neurology

Study Record Dates

• First Submitted: March 12, 2026
• First Posted: March 17, 2026
• Study Start: March 1, 2026
• Primary Completion (Estimated): March 1, 2050
• Study Completion (Estimated): March 1, 2050
• Last Updated: March 17, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)