Feasibility, Validation and Application of Digital Tools for the Follow-up of Neuromuscular Patient Mobility in Daily Living

Summary

The low prevalence of rare diseases hinders the design of clinical studies with sufficient statistical power to demonstrate the efficacy of new drugs. This can only be achieved by setting up international multicentre studies, which is challenging due to a lack of objective, universal outcome measures that generate high-quality, reproducible data. One of the hurdles in attaining universal outcome measures for clinical trials is the difficulty to capture and distinguish ambulatory from non-ambulatory, autonomous and assistive or involuntary movements. This makes a trial assessing the ambulatory phase very challenging at this moment. Excluding many participants from trials and many patients from access to medication.

Integration and validation of the technology in trials, research and patients' lives is essential in overcoming this hurdle. For example, in dystrophinopathies separate outcome measures exist for ambulant and non-ambulant participants, but the relation between these outcome measures or a transitional outcome measure/end point is largely missing.

Following an exhaustive literature review, several tools have been selected to remotely follow various symptoms of neuromuscular patients including weakness, pain, fatigue, cognitive defects, motor impairments (including loss of dexterity, ataxia...), metabolic, respiratory and cardiac troubles, contractures, tremor, falls, hypo or hypersomnia... The toolbox includes common measures for all patients but may include additional measures specific to the patient's symptoms (hence in turn to the patients' disease).

The measurements are designed to not be invasive, intrusive or burdensome for the patient.

DT4RD is going to leverage state-of-the art technology, clinical rating scales and psychometric/data analysis to deliver fit for purpose remote clinical assessments of mobility to ensure maximum patient benefit, specifically:

* Compare face to face clinical data collected in hospital with Patient Generated Data recorded remotely
* Examine how sensors can enhance measurement potentially at home and during clinical visits
* Promote a clear focus on user centered design and the integration of technology
* Use reliability and validity analyses to equate any common measures (those with the same or a similar construct)
* Demonstrate a proof-of-concept model into which different measures can be interchangeable

Conditions

• Neuromuscular Diseases

Interventions

OTHER

2MWT

Two minutes walk tests.

OTHER

MFM32

Motor Function Measurement (MFM) is a quantitative scale created to measure global motor functional abilities in a person with neuromuscular disease.

OTHER

MyoGrip

The MyoGrip is a dynamometer for measuring grip strength.

OTHER

QOL-gNMD

The "Quality of Life in genetic Neuromuscular Disease" questionnaire (QoL-gNMD) is a patient reported outcome measure (PROM) tool specifically designed for patients with a lowly progressive neuromuscular disease with genetically predominant muscular damage

DIAGNOSTIC_TEST

Spirometry

Forced vital capacity (FVC), peak expiratory flow (PEF) and forced expiratory volume in 1 second (FEV1) will be measured in the hospital with the local hospital device (e.g. Vitalograph) under the supervision of the clinical evaluator, and at home with a portable device.

DEVICE

Acceleromerty

The Links sensor system is a measuring device and consists of the Links Pods and the Links Hub. The Links pods contain an accelerometer, gyroscope and magnetometer to measure position relative to a global reference frame.

OTHER

10mWT

10 meters walking Test.

OTHER

PUL

The Performance of the Upper Limb (PUL) is a functional scale specifically designed for assessing upper limb function in Duchenne muscular dystrophy.

OTHER

NSAA

The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy.

OTHER

NSAD

The NSAD was developed to measure motor performance in ambulant and non-ambulant subjects as part of the clinical outcome study of dysferlinopathy.

OTHER

TANS

This scale is derived from the North Star Ambulatory Assessment and several items from the Egan Klassifikation Scale (EK2).

OTHER

MyoPinch

The MyoPinch is a high-precision dynamometer that allows the evaluation of key pinch strength.

OTHER

MyoQuad

The MyoQuad is a high-precision dynamometer that allows the evaluation of knee extension strength.

OTHER

ACTIVLIM

Activity limitations, as measured by ACTIVLIM, is defined as the difficulties a patient may have in executing daily activities, whatever the strategies involved.

OTHER

PREM

This questionnaire is made up of simple questions relating to the assessments and assessment tools that were used during the study.

OTHER

SF-MPQ

The main component of the SF-MPQ consists of 15 descriptors (11 sensories; 4 affective) which are rated on an intensity scale as 0 = none, 1 = mild, 2 = moderate or 3 = severe.

OTHER

FSS

The Fatigue Severity Scale is used to assess the severity of fatigue and its impact on daily living. The patient responds on a Likert-type scale ranging from 1 to 7.

OTHER

IPAQ

This questionnaire assesses overall physical activity and the level of sedentary lifestyle during the last seven days.

OTHER

Rang of motion

The EasyAngle® is a digital goniometer improving long established goniometric functionality with rotation, inclination, and scoliosis measurement capabilities.

DEVICE

Goniometry

The Links sensor system is a measuring device and consists of the Links Pods and the Links Hub. The Links pods contain an accelerometer, gyroscope and magnetometer to measure position relative to a global reference frame.

OTHER

Video captured monitoring

Once every four weeks, while wearing the Yumen electronic goniometers (Links Sensor System), the patients will be asked to record on video three tasks related to: 1. Upper limbs: hands to head 2. Lower limbs: Sit to stand with or without the help of a person 3. Self-defined important task: A task of the patient's choice, from a list of tasks, representative of his/her motor difficulties or hindrance to autonomy.

DEVICE

Activity monitoring

Wearable devices (connected watch) will collect health-related data on a 24/7 basis remotely as patients go through their daily routines at home and work.

Sponsors & Collaborators

• Aparito Ltd.

  collaborator INDUSTRY

• Institut de Myologie, France

  lead OTHER

Study Design

Allocation

NA

Purpose

OTHER

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

12 Years

Max Age

60 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2023-06-29

Primary Completion

2024-06-30

Completion

2024-06-30

Countries

• France
• United Kingdom

Study Locations