Pompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test, Genetic
Study Type: Observational
SUMMARY

The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD). The secondary objectives are to evaluate whether muscle pain is associated with muscle function, to assess whether muscle pain is associated with alterations of muscle tissue, and whether vitamin D metabolism and polymorphisms of ACE and ACTN3 genes may contribute to an increased level of perceived musculoskeletal pain. In a second step, exome sequencing of genes associated with musculoskeletal pain will be analyzed. Results of LOPD patients will be compared to patients with neuromuscular disorders with a similar distribution of muscle weakness and/or musculoskeletal pain.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• The patient is willing and able to provide signed informed consent.

• The patient is able and willing to perform study-related assessments.

• A) The patient is ≥18 years of age with acid α-glucosidase \[GAA\] enzyme deficiency, confirmed by GAA gene mutation analysis, or B) The patient has a histologically confirmed diagnosis of inclusion body myositis (IBM), or a genetically confirmed spinal muscular atrophy type 3 (SMA3) or a genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD).

Locations
Other Locations
Germany
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen
RECRUITING
Munich
Contact Information
Primary
Stephan Wenninger, PD Dr. med.
stephan.wenninger@med.uni-muenchen.de
4989440057470
Time Frame
Start Date: 2022-03-31
Estimated Completion Date: 2024-09-03
Participants
Target number of participants: 95
Treatments
LOPD group
50 Patients with genetically confirmed late-onset Pompe disease.
Control group
15 Patients with histologically confirmed inclusion body myositis (IBM), 15 patients with genetically confirmed spinal muscular atrophy type 3 (SMA3) and 15 patients with genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD) will serve as a control group.
Sponsors
Leads: LMU Klinikum

This content was sourced from clinicaltrials.gov