Why are FSHD muscles weak? A novel role for sarcomeric proteins

Why are FSHD muscles weak? A novel role for sarcomeric proteins - Why are FSHD muscles weak?

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON36149

Enrollment

Registered

2011-08-24

Start date

2011-12-12

Completion date

Unknown

Last updated

2024-04-29

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

Conditions

Landouzy-Dejerine muscular dystrophy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Genetically confirmed FSHD type 1, myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OMPD). For healthy controls: no history of neuromuscular disease.

Exclusion criteria

Exclusion criteria: History of cancer, use of corticosteriods during more than 2 weeks in the last 5 years, diabetes mellitus, chronic obstructive pulmonary disease, chronic heart failure pregnancy, comorbidity with influence on muscular function and contra-indications for MRI.

Design outcomes

Primary

Measure	Time frame
The difference in maximal forcegenerating capacity between patients with FSHD, myotonic dystrophy type 1, oculopharyngeal muscular dystrophy and healthy controls.	—

Secondary

Measure	Time frame
1) Muscle fiber mechanisms: cross-bridging cycling kinetics (a measure of actin-myosin interaction dynamics), myofilament calcium sensitivity en passive force generation. 2) Amount and structure of myofilaments: heavy chain myosin, actin, titin, nebulin and regulatory proteins. 3) Structure of muscle fibers: histology, (ultra)structure, myofilament lattice spacing. These parameters will be compared between the groups included (FSHD, myotonic dystrophy type 1, oculopharyngeal muscular dystrophy and healthy controls).	—

Measure

Time frame

1) Muscle fiber mechanisms: cross-bridging cycling kinetics (a measure of actin-myosin interaction dynamics), myofilament calcium sensitivity en passive force generation. 2) Amount and structure of myofilaments: heavy chain myosin, actin, titin, nebulin and regulatory proteins. 3) Structure of muscle fibers: histology, (ultra)structure, myofilament lattice spacing. These parameters will be compared between the groups included (FSHD, myotonic dystrophy type 1, oculopharyngeal muscular dystrophy and healthy controls).

—

Countries

Netherlands

Outcome results