Exploring the presence and characteristics of physical fatigability in children and adolescents with facioscapulohumeral dystrophy (FSHD)

Exploring the presence and characteristics of physical fatigability in children and adolescents with facioscapulohumeral dystrophy (FSHD) - iFocus fatigability

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON56024

Enrollment

Registered

2023-12-07

Start date

2024-03-27

Completion date

Unknown

Last updated

2024-11-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

FSHD Landouzy-Dejerine

Interventions

No intervention

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

Inclusion criteria: - patients with genetically proven FSHD - Disease onset in childhood (

Exclusion criteria

Exclusion criteria: - Loss of ambulation (the inability to perform the endurance shuttle walk test) - A history of myasthenia gravis or another neuromuscular disorder known to cause fatigability or affect the neuromuscular junction function - The use of drugs that change the neuromuscular transmission

Design outcomes

Primary

Measure	Time frame
The main study parameter will be whether fatigability is present in children en young adults with FSHD. Therefore, we propose to use the endurance shuttle box and block test (ESBBT) and the endurance shuttle walk test (ESWT). In short, we will instruct subjects to repeatedly move 10 blocks over a partition (ESBBT) or walk 10 meters (ESWT) at 75% of their previously determined, individualized maximum speed. The test will be ended when the subject is not able to keep up the pre-set pace during two consecutive shuttles or when the maximum duration of 20 minutes is reached (test completion). Further, we will describe these two tests in more detail. For each performed test we will document two outcomes: - Drop out (yes/no): the inability to endure the maximum duration of 20 minutes - Time to limitation (s) Increased fatigability is defined as the presence of drop out on the ESBBT or ESWT. The time to limitation is used as a measure of severity of fatigability	—

Measure

Time frame

The main study parameter will be whether fatigability is present in children en young adults with FSHD. Therefore, we propose to use the endurance shuttle box and block test (ESBBT) and the endurance shuttle walk test (ESWT). In short, we will instruct subjects to repeatedly move 10 blocks over a partition (ESBBT) or walk 10 meters (ESWT) at 75% of their previously determined, individualized maximum speed. The test will be ended when the subject is not able to keep up the pre-set pace during two consecutive shuttles or when the maximum duration of 20 minutes is reached (test completion). Further, we will describe these two tests in more detail. For each performed test we will document two outcomes: - Drop out (yes/no): the inability to endure the maximum duration of 20 minutes - Time to limitation (s) Increased fatigability is defined as the presence of drop out on the ESBBT or ESWT. The time to limitation is used as a measure of severity of fatigability

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Secondary

Measure	Time frame
Secondary study parameters are: - Disease severity (muscle strength, FSHD score, Ricci score, Motor function measure) - Muscle structure (muscle ultrasonography) - Quality of life (questionnaires) - Pain (questionnaire) - Fatigue (questionnaire, observed signs of fatigue) Other study parameters are: - Genotype characteristics, if present (D4Z4 repeat length) - Demographic and clinical characteristics (age, sex, length and weight) - Identification of environmental disease modifying factors (physical activity, co-morbidity and medication use)	—

Measure

Time frame

Secondary study parameters are: - Disease severity (muscle strength, FSHD score, Ricci score, Motor function measure) - Muscle structure (muscle ultrasonography) - Quality of life (questionnaires) - Pain (questionnaire) - Fatigue (questionnaire, observed signs of fatigue) Other study parameters are: - Genotype characteristics, if present (D4Z4 repeat length) - Demographic and clinical characteristics (age, sex, length and weight) - Identification of environmental disease modifying factors (physical activity, co-morbidity and medication use)

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Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)