Collaboration and Development of Standard Operating Procedures for Prospective Evaluation and Collection of Biospecimens in Neurosarcoidosis
Susana Dominguez Penuela1, Paula Barreras3, Greer Waldrop4, Migel Dio4, Evan Johnson1, Kathryn Fitzgerald1, Samuel Pleasure4, H. Benjamin Larman2, Michael Wilson4, Barney Stern1, Jeffrey Gelfand4, Carlos Pardo-Villamizar1
1Department of Neurology, 2Department of Pathology, Johns Hopkins University, 3Department of Neurology, Cedars-Sinai Medical Center, 4Department of Neurology, University of California San Francisco
Objective:
To establish a comprehensive research protocol for clinical assessment of patients with neurosarcoidosis (NS) to precisely characterize clinical phenotypes, pathogenic mechanisms, and biomarkers in a longitudinal observational cohort study.
Background:
Sarcoidosis is a multisystem inflammatory disorder characterized by granulomatous inflammation of affected organs. Central or peripheral nervous system involvement is present in 5-26% of patients with sarcoidosis. There is a need to establish multicenter collaborations to prospectively define clinical profiles and neuroimaging findings and secure biological samples to advance our understanding of the pathogenesis of NS and identify biomarkers of the disease.
Design/Methods:
We designed a protocol to recruit newly diagnosed or established patients with sarcoidosis with evidence of active neurological disease (defined by clinical manifestations and imaging or cerebrospinal fluid findings). We used clinical tools to characterize neurological function longitudinally. We evaluated mobility, cognition, processing speed, and disability using the Timed 25-Foot Walk, Montreal Cognitive Assessment, Symbol Digit Modalities Test, and Expanded Disability Status Scale. To comprehensively assess patient-reported outcomes, we evaluated health status, fatigue, pain, bladder and bowel control, mental health, perceived deficits, and walking scale. Abbreviated scale versions were selected when available. We established standard operating procedures for neuroimaging assessment, biospecimen collection, and biobanking.
Results:
To date, 24 patients with active NS have been recruited at two sites. 50% of patients are male. The median (IQR) age of all enrollees is 55 years (51-62).
Conclusions:
In this multicenter, prospective, observational, federally funded study of NS, we establish an approach to obtain clinical and biological research data along with the standard of care clinical management to facilitate a reliable characterization of clinical and biological profiles in NS patients. This standardized approach can be applied to future studies of NS patients.