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Existing patients at MassGeneral Hospital's MG clinic, ages 18-80, with autoimmune, AChR or MuSK antibody positive generalized myasthenia gravis.

Participants will wear a pendant sensor for 7 days and then participate in an on-site examination with using a tablet designed to evaluate weakness in MG.

Wearable sensor

Carina C Stafstrom, BS

Carina Stafstrom, BS

Amanda C Guidon, MD, MPH

The goal of this observational study is to evaluate the feasibility of using wearable sensor and digital technologies to measure motor and speech function in adults with autoimmune Myasthenia Gravis (MG).

The main question\[s\] it aims to answer are:

* To measure the correlation of sensor-based measures of motor function with existing outcome measures including the MG-ADL, MGQOL15r, QMG, MGComposite, and Neuro-QOL Fatigue scales.
* To develop and validate tablet-based digital assessments of speech and facial expression and to compare with existing outcome measures.

Participants will wear a pendant sensor for 7 days and then participate in tablet-based and in-person myasthenia-specific physical examinations. This will be performed in concert with routine care in the Massachusetts General Hospital MG clinic.

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by fluctuating muscle weakness and symptoms that interfere with activities of daily living and negatively impacts quality of life. MG symptoms are currently assessed in person through a careful history and physical exam by a neuromuscular disease expert. Such in-clinic assessments are time-consuming, subjective, only provide a snapshot of a patient's disease and do not adequately reflect the spectrum of fluctuating weakness and symptoms. In 2019, NIH funded a rare disease clinical research consortium called MGNet. The consortium is focused on improved characterization of clinical phenotypes, discovery of biomarkers, and advancing clinical trial readiness for MG, which would enhance the development of more effective and personalized treatments. In this Fast Track SBIR project, BioSensics will collaborate with Massachusetts General Hospital - one of the key Consortium sites for MGNet - to develop and validate a wearable sensor solution (MGWear) for continuous remote monitoring of motor symptoms and function in MG patients and also a secure mobile application (MG app) for automatic assessment of speech and facial characteristics. The mobile application will also enable the transfer of data from the wearable device to BioSensics HIPAA-compliant backend cloud called BioDigit Cloud.

The objective of the study is to evaluate the feasibility of using wearable sensor and digital technologies to measure motor and speech function as well as developing metrics to measure ocular and facial expression to monitor disease activity and fluctuating muscle weakness in people with Myasthenia Gravis (MG).To achieve this objective, the investigators will conduct an observational study is to investigate the correlation between outcomes as measured by the PAMSys sensor and digital health technologies with the total score and sub-scores of MG specific outcome measures.

A key application and market for the proposed solution technology is pharmaceutical clinical trials. Wearable sensors and digital technologies like the technology proposed here could allow drug developers to test and iterate faster, providing a valuable new method for evaluating efficacy. Clinically, the proposed solution could be used to predict an individual's response to immunosuppressive drugs and to improve medication titration. Such solutions can enable detecting subtle changes in movement-based and digital biomarkers and provide insight into the phase of clinical disease onset. Additionally, the growing use of telemedicine to expand access and potentially reduce costs of high-quality care will require remote assessment strategies. 20% of states in the US (10 out of 50 states) have no specialized care for MG. Travel time, distance and cost may limit patients' access to expert care, even in states with identified MG specialists. The proposed remote monitoring technologies have potential to lessen barriers to quality care access for MG patients.

Physical Activity Monitoring in Myasthenia Gravis

Wearable Sensor and Digital Technologies for Quantitative Assessment and Remote Monitoring of Symptoms in Myasthenia Gravis

To measure the correlation of sensor-based measures of motor function to the MG-ADL, QMG, MGC, and Neuro-QOL Fatigue.

To develop and validate digital assessment of speech and facial expression compared to rating of MG-ADL, QMG, MGC, and Neuro-QOL Fatigue.

BioSensics

Massachusetts General Hospital

Assistant Professor of Neurology/Harvard Medical School

Participants in this group will be recruited from the outpatient clinical population at participating MGNet sites. Treating physicians will make the initial determination of patients' potential eligibility to participate in the study.

Two video telehealth visits will be conducted and recorded within 3 days of one another (+/- 1 day)

Telehealth

Richard Nowak, MD, MS

Amanda Guidon, MD, MPH

The goal of this pilot study is to determine the reliability of myasthenia gravis (MG) specific outcome measures obtained during virtual encounters with patients with myasthenia gravis. The main question it aims to answer is: Are MG-specific outcome measures obtained during virtual encounters reliable?

Participants will complete two virtual study visits in which they will be administered common MG-specific outcome measures and a newly developed outcome measure developed specifically for telemedicine assessments of MG patients.

The purpose of this study is to better understand the use of modified clinical assessments during telehealth visits for patients with Myasthenia Gravis (MG). The study will consist of 2 virtual telemedicine visits. A screening visit will be conducted to optimize the telemedicine environment, provide training on the telemedicine platform being used in the study, and collect demographic, medical history, and medication information. Participants who meet eligibility requirements will have a telemedicine visit (Visit 1) with a study doctor where assessments adapted for the telemedicine environment will be performed. Participants will also be asked to fill out questionnaires related to MG or their experience with telemedicine either online or with the study investigators. A second visit (Visit 2), conducted within 3 days (+/- 1 day), will replicate the assessments performed in V1. Visit 1 and Visit 2 will be recorded for later review by study team members. The investigators hope to establish the effectiveness of these clinical tools in order to better manage MG in the future in clinical care and research study visits.

The Adapting Disease Specific Outcome Measures Pilot Trial for Telehealth in Myasthenia Gravis

The Adapting Disease Specific Outcome Measures Pilot Trial for Telehealth in Myasthenia Gravis (ADAPT-teleMG)

Interrater reliability of the virtual Myasthenia Gravis Composite (MGC-v) score will be estimated between two independent rater assessments performed on Visit 1 (V1) and Visit 2 (V2). The MGC score is a validated, patient-reported 10-item assessment tool for evaluating the symptoms and signs of MG. Patient assessment includes self-report of impact (normal, mild, moderate, or severe) and is additionally weighted for clinical significance. Total score ranges from 0 to 50, with higher scores indicating a greater impact of MG on functional activities. A three point change is considered clinical meaningful. This brief assessment takes approximately 10 minutes to complete.

National Institute of Neurological Disorders and Stroke (NINDS)

National Center for Advancing Translational Sciences (NCATS)

Yale University

Principal Investigator

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

Nerve Sheath Neoplasms

Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Neoplastic Syndromes, Hereditary

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn

Peripheral Nervous System Diseases

Peripheral Nervous System Neoplasms

Neurofibromatosis

Neurofibromatosis Type 1

Outcome measures

Amelia Khan, MSc

Rosalie Ferner, Professor

Rebecca Mullin, MSc

Fionnuala Donovan

To examine the test-retest reliability (how stable the results are when the same participants, whose symptoms have remained stable, are assessed on 2 different occasions, 14 days apart) of the 10 meter walk test, the timed up and go test, the functional reach test and the grip dynamometry test in adults with neurofibromatosis 1 (NF1).

Participants' will be recruited during their attendance to the National Centre for Neurofibromatosis at Guy's hospital between August 2019 and March 2020 then following a COVID-19 break, from March 2022 until October 2022. Guy's and St Thomas' Trust (GSTT) is a National Centre for the diagnosis, management and support of approximately 1600 people with neurofibromatosis 1. Currently patients' attend the clinic for their standard assessment appointment every 6-12 months. They will receive a participant information sheet before their appointment, and the treating clinician (specialist doctors and nurses) will confirm that the individual meets the inclusion criteria and identify whether they wish to participate. At each of these contact points as well as within the participant information sheet, the potential participant will be advised that their decision to participate/ not to participate within this study will have no impact on their clinical care. Each participant will be asked to complete each outcome measure at both study visits.

Once written consent has been obtained each participant will be given a unique alphanumeric identification code for use within the trial. Written consent to participate in the study will be collected from the participant by the researcher (FD) on the day of their first outcome measure appointment. The researcher will then start the outcome measurement testing session. The participant will be expected to attend one additional appointments to their standard bi-yearly/yearly appointment where data on the outcome measure will only be collected, the additional appointment will be 14 days later. During each of these appointments the participants will be asked to complete 4 outcome measures (Timed-up and go, Timed 10m walk test, Functional reach test and Grip-A Dynamometry) 3 times (and a mean will be taken) alongside completion of the neurofibromatosis 1 quality of life questionnaire (INFQOL), and a basic neurological assessment (to establish a baseline of symptoms) During their second appointment, in addition to above, the participant will also be asked if they have noted any changes in their symptoms in the last 14 days. The testing procedure will take approximately 60 minutes per participant in total outside of the individual's clinic appointment time.

Outcome measures The 10m walk test will time how long it takes the participant to walk for a distance of 10m (this will be on a marked walkway). The timed up and go test will time how long it takes the participant to stand up from a chair, walk 3m, turn around and return to sitting on the chair. For each of the above tests the participant will complete them independently but can use a walking aid if they require to. The functional reach test will require the participant to stand with there arm out in front of them and reach forward as far as they can without moving their feet, the distance will be recorded with a tape measure attached to the wall. The final test, the grip dynamometry with require the participant to squeeze the Grip-A Dynamometer as hard as they can. They will complete these 3 times and a mean score will be taken.

Data Analysis and sample size Data will be collected and analyzed using Pearson and intra-class correlation models. These models are recommended when testing for reliability as repeated measurements cannot be regarded as randomized samples (Koo and Li, 2016). A sample of 20 (5 x the items to be tested) participants is recommended for use in test- retest studies (Park et al., 2017) to ensure that the sample is representative of the wider population. Once the data has been analyzed by the relevant clinician's the data will be destroyed in line with trust policy.

The researcher will not be involved in the initial invitation of participants to the study and will have no influence on who can join the study other than providing the inclusion and exclusion criteria. The participants overall standard care will not be affected through participation in the study inclusive if the recruitment process. In accordance with Good Clinical Practice (GCP) we will ensure that participants understand fully the reason for the study and their involvement.

Inclusion/exclusion criteria All participants aged 16 years or older who fulfill the diagnostic criteria for neurofibromatosis 1, who do not have a significant mobility or balance impairment that is unrelated to their neurofibromatosis 1, are able to walk more than 10 meters without physical assistance (may use walking aids), who are able to provide written consent and who attend the national Neurofibromatosis service at GSTT will be eligible to participate in the study.

Consent Participants will be recruited by the researcher (chief investigator) will obtain written consent to participate in the study a from every individual after they have had at least 24 hours to read the information sheet and the opportunity to ask questions about the study. Consent will be obtained by the chief investigator who has attended Good Clinical Practice Training.

Steps to reduce researcher bias To reduce the risk of selection bias, multiple clinicians will be included in recruitment however, the researcher will not be involved in this process.

To reduce the risk of performance bias, the outcome measurements will all be collected by the same Physiotherapist with standardized instructions.

To reduce the risk of detection bias, a statistician will review the statistical plan and the data collected to ensure appropriateness and accuracy.

Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest

A Study Investigating the Test- and Retest Reliability of a Battery of Functional Standardised Outcome Measures in Adults With Neurofibromatosis 1

Time how long it takes the participant to walk for a distance of 10m

Time how long it takes the participant to stand up from a chair, walk 3m, turn around and return to sitting on the chair

Requires the participant to stand with there arm out in front of them and reach forward as far as they can without moving their feet, the distance will be recorded with a tape measure attached to the wall.

Require the participant to squeeze the Grip-A Dynamometer as hard as they can. They will complete these 3 times and a mean score will be taken.

Guy's and St Thomas' NHS Foundation Trust

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Physical Activity Monitoring in Myasthenia Gravis	NCT06277830	Myasthenia Grav...	Wearable sensor	18 Years - 80 Years	Massachusetts General Hospital
The Adapting Disease Specific Outcome Measures Pilot Trial for Telehealth in Myasthenia Gravis	NCT05917184	Myasthenia Grav...	Telehealth	18 Years -	Yale University
Physical Activity Monitoring in Myasthenia Gravis	NCT06277830	Myasthenia Grav...	Wearable sensor	18 Years - 80 Years	Massachusetts General Hospital
Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest	NCT05186870	Neurofibromatos...	Outcome measure...	16 Years -	Guy's and St Thomas' NHS Foundation Trust
Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest	NCT05186870	Neurofibromatos...	Outcome measure...	16 Years -	Guy's and St Thomas' NHS Foundation Trust

Spots Global Cancer Trial Database for outcome measures