NCT05798325

Brief 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

Trial Health

47
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
40

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Jun 2023

Geographic Reach
2 countries

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 8, 2023

Completed
27 days until next milestone

First Posted

Study publicly available on registry

April 4, 2023

Completed
3 months until next milestone

Study Start

First participant enrolled

June 29, 2023

Completed
1 year until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2024

Completed
Last Updated

September 28, 2023

Status Verified

September 1, 2023

Enrollment Period

1 year

First QC Date

March 8, 2023

Last Update Submit

September 26, 2023

Conditions

Keywords

Neuromuscular DiseasesDystrophyMonitoringAccelerometerEvaluation

Outcome Measures

Primary Outcomes (1)

  • Global home evaluations' attendance

    Proportion of home assessments carried out compared to the number of home assessments planned

    Through study completion, an average of 1 year

Secondary Outcomes (8)

  • Compliance with filling out questionnaires at home

    Through study completion, an average of 1 year

  • Compliance regarding using of the spirometer at home

    Through study completion, an average of 1 year

  • Compliance regarding using of the LINKS sensors device at home

    Through study completion, an average of 1 year

  • Compliance regarding using of the activity sensor at home

    Through study completion, an average of 1 year

  • Compliance regarding achievement of video tasks at home

    Through study completion, an average of 1 year

  • +3 more secondary outcomes

Study Arms (1)

Principal

OTHER
Other: 2MWTOther: MFM32Other: MyoGripOther: QOL-gNMDDiagnostic Test: SpirometryDevice: AcceleromertyOther: 10mWTOther: PULOther: NSAAOther: NSADOther: TANSOther: MyoPinchOther: MyoQuadOther: ACTIVLIMOther: PREMOther: SF-MPQOther: FSSOther: IPAQOther: Rang of motionDevice: GoniometryOther: Video captured monitoringDevice: Activity monitoring

Interventions

2MWTOTHER

Two minutes walk tests.

Also known as: Two minutes walk tests
Principal
MFM32OTHER

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

Also known as: Muscle Motor Function 32
Principal
MyoGripOTHER

The MyoGrip is a dynamometer for measuring grip strength.

Principal

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

Principal
SpirometryDIAGNOSTIC_TEST

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.

Also known as: Spirobank Smart
Principal

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.

Also known as: Links sensor system
Principal
10mWTOTHER

10 meters walking Test.

Principal
PULOTHER

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

Also known as: Performance of Upper Limb
Principal
NSAAOTHER

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.

Also known as: North Star Ambulatory Assessment
Principal
NSADOTHER

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

Also known as: North Star Assessment for limb-girdle type muscular dystrophies
Principal
TANSOTHER

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

Also known as: Transition Assessment North Star
Principal

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

Principal
MyoQuadOTHER

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

Principal

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

Principal
PREMOTHER

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

Also known as: Patient Reported Experience Measures
Principal
SF-MPQOTHER

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.

Also known as: Modified Short-form McGill Pain Questionnaire
Principal
FSSOTHER

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.

Also known as: Fatigue Severity Scale
Principal
IPAQOTHER

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

Also known as: International Physical Activity Questionnaire
Principal

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

Also known as: EasyAngle
Principal

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.

Also known as: Links Sensor System goniometers
Principal

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.

Principal

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.

Also known as: Activity assessment and physiological parameters
Principal

Eligibility Criteria

Age12 Years - 60 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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)

You may not qualify if:

  • 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)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Association Institut de Myologie

Paris, 75013, France

RECRUITING

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, NE1 3BZ, United Kingdom

NOT YET RECRUITING

MeSH Terms

Conditions

Neuromuscular Diseases

Interventions

SpirometryArthrometry, Articular

Condition Hierarchy (Ancestors)

Nervous System Diseases

Intervention Hierarchy (Ancestors)

Respiratory Function TestsDiagnostic Techniques, Respiratory SystemDiagnostic Techniques and ProceduresDiagnosisRange of Motion, ArticularPhysical ExaminationMusculoskeletal Physiological PhenomenaMusculoskeletal and Neural Physiological Phenomena

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 8, 2023

First Posted

April 4, 2023

Study Start

June 29, 2023

Primary Completion

June 30, 2024

Study Completion

June 30, 2024

Last Updated

September 28, 2023

Record last verified: 2023-09

Locations