ALS/MND Natural History Study Data Repository

Study Overview
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Brief Summary
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This is a data repository for multi-site multi-protocol clinic-based Natural History Study of ALS and Other Motor Neuron Disorders (MND). All people living with ALS or other MNDs who attend clinics at the Study hospitals (sites) are offered to participate in the Study. The Sites collect so-called Baseline information including demographics, disease history and diagnosis, family history, etc. At each visit, the Sites also collect multiple disease-specific outcome measures and events. The information is captured in NeuroBANK, a patient-centric clinical research platform. The Sites have an option to choose to collect data into 20+ additional forms capturing biomarkers and outcome measures. Captured data after its curation are anonymized (all personal identifiers and dates are being removed), and the anonymized dataset is shared with medical researchers via a non-exclusive revocable license.

Detailed Description
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Most people with ALS or MND who are seen clinically by the PI or PI designees at participating sites will be recruited into this study. This well-established framework provides an opportunity to offer to a large proportion of people with ALS/MND a chance to participate in a clinical research project. Upon obtaining consent, the following is done: People with ALS/MND are assigned a Neurological Global Unique Identifier (NeuroGUID) and its study-specific derivative, NeuroSTAmP, which is used to link this Study's information to biological samples, images, and clinical data obtained from those individuals in this Study and other studies/trials, in which these patients participate(d). The following information is captured in NeuroBANK platform: Baseline information Longitudinal clinical and phenotypical data from routine clinical visits Longitudinal clinical and historical phenotypical data transcribed from electronic health records and notes Any other observational data that are of interest to the Investigator may be captured or linked to information in NeuroBANK. Other Key Features The site should track numbers of patients who declined participation. The site should have a mechanism in place to include an offer of participation to each patient in clinic (consenting does not require immediate data entry) Regular Data Quality checks may be performed at the site. Site personnel who intend to have access to NeuroBANK are trained and certified prior to given access. Several registries, both cross-sectional and longitudinal, currently exist in ALS. NeuroBANK is distinct from other current registries in that it is a patient-centered platform that is designed to function as a data repository of patient data from clinical visits and multiple clinical research projects as well as linking these data to biorepository for tissue, imaging, and other biological information. This natural history study can act as a clinical research framework that may link clinical and clinical research data from current and past studies with biological specimens and image collections. With obtained consents, biological specimens may be collected with bar-coded labels containing patient assigned study specific NeuroSTAmPs, printed from within NeuroBANK, and scanned into NeuroBANK's virtual distributed BioRepository module. Imaging studies are de-identified with NeuroSTAmPs and linked to clinical and phenotypical information. Anonymized clinical data obtained through this protocol are available to other researchers. Study Population Individuals who are seen during their clinical care visits are asked to allow their data to be uploaded and captured for clinical research. The NeuroBANK platform is located at and managed by the Center for Innovation and Bioinformatics (CIB), Neurological Clinical Research Institute (NCRI) of Massachusetts General Hospital (Boston, MA). Consent Process Every participant in the ALS clinic is approached to participate in this study. A signed informed consent form is obtained before any data are recorded for study purposes.

Official Title
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ALS/MND Natural History Study Data Repository

Conditions
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ALS, PLS, MND (Motor Neurone DIsease), Kennedy Disease, PMA - Progressive Muscular Atrophy, PBP - Progressive Bulbar Palsy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: A clinical diagnosis of El Escorial of suspected, possible, probable, or definite ALS or Other motor neuron disorders, including but not limited to Spinal-Bulbar Muscular Atrophy (SBMA, Kennedy's disease), Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis (PLS), Progressive Muscular Atrophy (PMA), and Progressive Bulbar Palsy (PBP) Exclusion Criteria: Disease does not meet criteria for any motor neuron disorder

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| ALS Functional Rating Scale-Revised (ALSFRS-R) | The ALS Functional Rating Scale revised is a 12-item rating scale that measures the progression of disability in patients with ALS. The ALSFRS-r assesses patients' levels of self-sufficiency in areas of feeding, grooming, ambulation and communication. The higher the score, the earlier in the disease progression. It consists of 12 questions with a maximum score of 48 points. | Every 3-4 months up to 5 years | 
| Slow Vital Capacity (SVC) | Slow vital capacity test normalized to age, sex, and height | Every 3-4 months up to 5 years | 
| Survival | Patient survival or survival equivalent (time to ventilator or feeding tube). Survival equivalent is assessed during routine clinical visits, while mortality event may be reported when becomes known to the treating clinician.. | Every 3-4 months up to 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Vital Signs | Vital Signs (Weight, BP, HR). Both systolic and diastolic pressure are measured. | Every 3-4 months up to 5 years | 
| Neurological Examination | Neurological exam that tests for abnormality various areas, from general assessment to coordination and cerebellar function, to sensation and reflexes, to cranial nerves and plantar | Through study completion, annually up to 5 years | 
| El Escorial Criteria | The El Escorial criteria are diagnostic criteria for ALS. They classify patients into categories of possible, probable, or definite ALS, based on signs of degeneration of upper and lower motor neurons in different body regions. | Through study completion, annually up to 5 years | 
| Handheld Dynamometry | Handheld Dynamometry for quantitative strength testing of 18 muscles that is a reliable and reproducible measure of decline in ALS | Every 3-4 months up to 5 years | 
| Grip Strength Testing | Grip Strength Testing | Every 3-4 months up to 5 years | 
| Rasch Overall ALS Disability Scale (ROADS) | Rasch Overall ALS Disability Scale, the ROADS provides a normed total score on 28 items from 0-146 to capture overall disability level in a linearly-weighted manner, with lower scores indicating disease progression | Every 3-4 months up to 5 years | 
| 5 Times Sit to Stand | 5 Times Sit to Stand Test | Every 3-4 months up to 5 years | 
| 10 Meter Walk Test | 10 Meter Walk Test | Every 3-4 months up to 5 years | 
| Physical Examination | Physical Examination that includes the following test areas for abnormality and clinical significance: respiratory, cardio, gastrointestinal, genitourinary. and musculoskeletal | Through study completion, annually up to 5 years |