## Protocol Section
### Identification Module
**NCT ID:** NCT06425445

**Brief Title:** Quantitative Assessment of Orofacial Muscle Function in FSHD

**Official Title:** Development of a New Clinical Tool for the Assessment of Orofacial Muscles in Patients Affected by Facioscapulohumeral Muscular Dystrophy: a Preliminary Study.

#### Organization Study ID Info
**ID:** P2024/031
#### Organization
**Class:** OTHER
**Full Name:** University of Mons
### Status Module
#### Completion Date
**Date:** 2024-09-30

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2024-05-22

**Type:** ACTUAL

**Last Update Submit Date:** 2024-05-17

**Overall Status:** RECRUITING

#### Primary Completion Date
**Date:** 2024-09-30

**Type:** ESTIMATED

#### Start Date
**Date:** 2024-05-14

**Type:** ACTUAL

**Status Verified Date:** 2024-05

#### Study First Post Date
**Date:** 2024-05-22
**Type:** ACTUAL
**Study First Submit Date:** 2024-05-17
**Study First Submit QC Date:** 2024-05-17
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** University of Mons

#### Responsible Party

**Investigator Affiliation:** University of Mons

**Investigator Full Name:** Alexandre Legrand

**Investigator Title:** Professor and Dean of the Faculty of Medicine and Pharmacy

**Type:** PRINCIPAL_INVESTIGATOR

### Oversight Module

**Is FDA Regulated Device:** False

**Is FDA Regulated Drug:** False

**Is US Export:** False

**Oversight Has DMC:** False

### Description Module

**Brief Summary:** The goal of this study is to validate a new method for the assessment of orofacial muscles in FSHD affected individuals, using maximal expiratory pressures (MEPs).

Our hypothesis is the following:

- The pressure drop observed when using circular mouthpieces (versus ovoid mouthpieces) is a reflection of orofacial dysfunction in FSHD affected individuals

### Conditions Module

**Conditions:**

- Facioscapulohumeral Muscular Dystrophy

### Design Module

#### Design Info

**Allocation:** NON_RANDOMIZED

**Intervention Model:** PARALLEL

##### Masking Info

**Masking:** NONE

**Primary Purpose:** OTHER

#### Enrollment Info

**Count:** 20

**Type:** ESTIMATED

**Phases:**

- NA

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Procedure: Measurement of maximal expiratory pressures during forced static expiratory maneuvers sustained over 5 seconds

**Label:** Affected participants

**Type:** EXPERIMENTAL

#### Arm Group 2

**Intervention Names:**

- Procedure: Measurement of maximal expiratory pressures during forced static expiratory maneuvers sustained over 5 seconds

**Label:** Healthy participants

**Type:** EXPERIMENTAL

### Interventions

#### Intervention 1

**Arm Group Labels:**

- Affected participants

- Healthy participants

**Description:** Participants perform forced static expiratory maneuvers sustained over a five second period

**Name:** Measurement of maximal expiratory pressures during forced static expiratory maneuvers sustained over 5 seconds

**Type:** PROCEDURE

### Outcomes Module

#### Primary Outcomes

**Description:** The pressure drop (PD) is defined as the pressure difference between a reference ovoid-shaped mouthpiece and variously-sized circular mouthpieces, divided by the reference pressure. It is a relative value that is expected to reflect the magnitude of orofacial muscle dysfunction in FSHD affected individuals.

**Measure:** The pressure drop

**Time Frame:** The pressure drop will be assessed for each study participant at visit 1 and subsequently at visit 2 (3 months later). The measurements as such, should take about 30 minutes for each participant

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* Genetic diagnosis of FSHD type 1 and/or type 2

Exclusion Criteria:

* Pregnant women
* Presence of other associated neuromuscular conditions
* Any unstable interfering clinical situation

**Healthy Volunteers:** True

**Maximum Age:** 65 Years

**Minimum Age:** 15 Years

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

### Contacts Locations Module

#### Central Contacts

**Contact 1:**

**Email:** 535678@umons.ac.be

**Name:** Eliot Rudy Mbolo Ebubu (PhD candidate, MD, study investigator)

**Phone:** 0032485114738

**Role:** CONTACT

**Contact 2:**

**Email:** alexandre.legrand@umons.ac.be

**Name:** Alexandre Legrand (PhD, MD, principal investigator)

**Phone:** 0032475471353

**Role:** CONTACT

#### Locations

**Location 1:**

**City:** Mons

**Contacts:**

***Contact 1:***

- **Email:** 535678@umons.ac.be

- **Name:** Eliot Rudy Mbolo Ebubu (PhD candidate, MD, study investigator)

- **Phone:** 0032485114738

- **Role:** CONTACT

***Contact 2:***

- **Email:** alexandre.legrand@umons.ac.be

- **Name:** Alexandre Legrand (PhD, MD, principal investigator)

- **Phone:** 0032475471353

- **Role:** CONTACT

**Country:** Belgium

**Facility:** University of Mons

**State:** Hainaut

**Status:** RECRUITING

**Zip:** 7000

#### Overall Officials

**Official 1:**

**Affiliation:** University of Mons

**Name:** Alexandre Legrand (PhD, MD, principal investigator)

**Role:** PRINCIPAL_INVESTIGATOR

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000020966

- Term: Muscular Disorders, Atrophic

- ID: D000009135

- Term: Muscular Diseases

- ID: D000009140

- Term: Musculoskeletal Diseases

- ID: D000009468

- Term: Neuromuscular Diseases

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000030342

- Term: Genetic Diseases, Inborn

### Condition Browse Module - Browse Branches

- Abbrev: BC05

- Name: Musculoskeletal Diseases

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: All

- Name: All Conditions

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M12093

- Name: Muscular Dystrophies

- Relevance: HIGH

- As Found: Muscular Dystrophy

- ID: M22188

- Name: Muscular Dystrophy, Facioscapulohumeral

- Relevance: HIGH

- As Found: Facioscapulohumeral Muscular Dystrophy

- ID: M4589

- Name: Atrophy

- Relevance: LOW

- As Found: Unknown

- ID: M12092

- Name: Muscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M22697

- Name: Muscular Disorders, Atrophic

- Relevance: LOW

- As Found: Unknown

- ID: M12097

- Name: Musculoskeletal Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M12411

- Name: Neuromuscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: T3963

- Name: Muscular Dystrophy

- Relevance: HIGH

- As Found: Muscular Dystrophy

- ID: T2182

- Name: Facioscapulohumeral Muscular Dystrophy

- Relevance: HIGH

- As Found: Facioscapulohumeral Muscular Dystrophy

### Condition Browse Module - Meshes

- ID: D000009136

- Term: Muscular Dystrophies

- ID: D000020391

- Term: Muscular Dystrophy, Facioscapulohumeral

### Misc Info Module

- Version Holder: 2024-05-31
