Feasibility, Validation and Application of Digital Tools for the Follow-up of Neuromuscular Patient Mobility in Daily Living (DT4RD)

Institut de Myologie, France

Status: Enrolling

Conditions: Neuromuscular Diseases

Treatments: Other: SF-MPQ; Other: NSAD; Other: MyoQuad; Other: MyoGrip; Other: 2MWT; Other: MyoPinch; Other: ACTIVLIM; Other: FSS; Other: NSAA; Device: Goniometry; Other: PUL; Device: Activity monitoring; Other: 10mWT; Other: Video captured monitoring; Other: QOL-gNMD; Other: Rang of motion; Other: MFM32; Other: PREM; Device: Acceleromerty; Other: TANS; Other: IPAQ; Diagnostic Test: Spirometry

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT05798325

DT4RD

Details and patient eligibility

About

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

Enrollment: 40 estimated patients

Sex: All

Ages: 12 to 60 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Aged between 12 and 60 years
• Patients with a genetically confirmed/molecular-proven neuromuscular or neurometabolic disease*
• Patients experiencing walking difficulties in the home and at high risk of limiting participation and walking outside of the home.
• Written informed consent
• Able to comply with all protocol requirements, including video recording
• Affiliated to or beneficiary of a social security scheme (for France)

Exclusion criteria

• Patients with undefined diagnosis or any diagnosis other than neuromuscular or neurometabolic disease
• Patient walking 10m in less than 10s
• Guardianship/trusteeship
• Pregnant or nursing women
• Patients having relevant concomitant pathologies that, in the appreciation of the investigator could interfere with protocol compliance
• Patients not being affiliated with local social security (for France)

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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40 participants in 1 patient group

Principal

Other group

Treatment:

Other: IPAQ

Other: MyoPinch

Other: TANS

Device: Acceleromerty

Diagnostic Test: Spirometry

Other: PREM

Other: MFM32

Other: Rang of motion

Device: Activity monitoring

Other: PUL

Device: Goniometry

Other: ACTIVLIM

Other: NSAA

Other: Video captured monitoring

Other: FSS

Other: QOL-gNMD

Other: 2MWT

Other: MyoGrip

Other: MyoQuad

Other: NSAD

Other: 10mWT

Other: SF-MPQ