NCT04377217

Brief Summary

The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most moderate cases. Thus, it requires costly and burdensome logistics both for patients living in remote areas and having to undertake long and expensive travel, and for clinical staff. This is an obstacle to large-scale diagnosis. The investigators plan to alleviate these limitations through the use of digital facial analysis technology that would enable large-scale diagnosis of patients through telemedicine. Motivated by the reasons described above and by preliminary results, the goal of this project is to develop methods to automatically detect and monitor the progression of this disease using computer vision algorithms. In order to do this, the investigators will first build up a bank of images and videos of patients with moderate to severe FSHMD, patients with other muscular dystrophies causing facial muscle asymmetry, as well as control subjects without facial involvement. Each of these subjects will be characterized clinically and genetically. The investigators will then develop computer tools using video and audio sensors capable of detecting facial muscle damage in patients with FSHMD and differentiating them from control subjects on the one hand and patients with other muscular dystrophies on the other hand. The investigators wish to use the most recent advances in terms of "deep-learning" and improve their architecture in order to achieve our objectives. In addition to this holistic approach, the investigators will study facial recognition approaches capable of accurately identifying different facial areas on images, as well as the relevance of different statistical properties of facial dynamics (duration and intensity). These algorithms will also be useful for monitoring the evolution of facial damage in order to develop a specific measurement tool that could be used in patient follow-up and in clinical trials on early stages of the disease.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
17

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Mar 2019

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

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

Study Start

First participant enrolled

March 5, 2019

Completed
5 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 25, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 25, 2019

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

May 2, 2020

Completed
4 days until next milestone

First Posted

Study publicly available on registry

May 6, 2020

Completed
Last Updated

November 15, 2023

Status Verified

November 1, 2023

Enrollment Period

5 months

First QC Date

May 2, 2020

Last Update Submit

November 14, 2023

Conditions

Outcome Measures

Primary Outcomes (1)

  • Video recording

    Sensitivity and specificity of the algorithm to differentiate FSMHD patients with moderate and severe facial impairment from control subjects

    fisrt day

Study Arms (1)

Video recording

EXPERIMENTAL

The experimenter will make a standardized video of the patient during the inclusion process, and a second one after 18 months.

Other: Video recording

Interventions

The experimenter will make a standardized video of the patient during the inclusion process, and a second one after 18 months, in order to evaluate the evolution of facial damage. Then algorithms will be developped to be able of differentiating FSHMD patients with facial damage from control subjects using video and audio recordings.

Video recording

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may not qualify if:

  • Patient presenting all pathologies judged by the investigator to interfere with the smooth running of the study (facial trauma, ...).
  • Pregnant or breastfeeding women of childbearing age.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hopital Pasteur 2

Nice, 06001, France

Location

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Interventions

Videotape Recording

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Tape RecordingAudiovisual AidsEducational TechnologyTechnologyTechnology, Industry, and AgricultureTelevision

Study Officials

  • Luisa VILLA, Dr

    Centre Hospitalier Universitaire de Nice

    PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

First Submitted

May 2, 2020

First Posted

May 6, 2020

Study Start

March 5, 2019

Primary Completion

July 25, 2019

Study Completion

July 25, 2019

Last Updated

November 15, 2023

Record last verified: 2023-11

Data Sharing

IPD Sharing
Will not share

Locations