Assessing pain in adults with Pompe disease
Pompe & Pain - Observational Study to Assess Musculoskeletal Pain in Late-onset Pompe Disease (LOPD)
This study is trying to understand how common and severe muscle pain is in adults with Pompe disease and how it relates to their muscle function and genes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 95 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | LMU Klinikum Academic / other |
| Locations | 1 site (Munich, Bavaria) |
| Trial ID | NCT05272969 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the prevalence, severity, and quality of musculoskeletal pain in adult patients with late-onset Pompe disease in Germany. Approximately 50 patients with genetically confirmed Pompe disease will be recruited, alongside control groups of patients with inclusion body myositis, spinal muscular atrophy type 3, and facio-scapulo-humeral muscle dystrophy. The study will evaluate the association of muscle pain with muscle function, tissue alterations, and genetic factors. Additionally, exome sequencing will be performed to analyze genes related to musculoskeletal pain.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with genetically confirmed late-onset Pompe disease or other specified neuromuscular disorders.
Not a fit: Patients currently participating in another clinical study or those with severe depression may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of pain in patients with Pompe disease and similar neuromuscular disorders.
How similar studies have performed: While studies on pain in neuromuscular disorders exist, this specific approach focusing on late-onset Pompe disease is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: A patient must meet the following criteria to be eligible for this study: 1. The patient is willing and able to provide signed informed consent. 2. The patient is able and willing to perform study-related assessments. 3. 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). Exclusion Criteria: A patient who meets any of the following criteria will be excluded from this study. 1. The patient is participating in another clinical study or using an investigational treatment. 2. The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study. 3. The patient has currently a severe depression, assessed by the Beck depression inventory fast screen (BDI-FS) with a score ≥ 4
Where this trial is running
Munich, Bavaria
- Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen — Munich, Bavaria, Germany (Recruiting)
Study contacts
- Principal investigator: Stephan Wenninger, PD Dr. med. — Study Principal Investigator
- Study coordinator: Stephan Wenninger, PD Dr. med.
- Email: stephan.wenninger@med.uni-muenchen.de
- Phone: 4989440057470
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.