Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease

Launched by LMU KLINIKUM · Mar 8, 2022

Keywords

ClinConnect Summary

The "Pompe & Pain" study is looking at how common and severe muscle pain is in adults with late-onset Pompe disease, a condition that affects muscle function. Researchers want to understand not just how much pain patients experience, but also if this pain is linked to how well their muscles work, changes in muscle tissue, and factors like vitamin D levels and specific gene variations. This study is taking place in Germany and will also compare the results of Pompe disease patients with those who have similar muscle-related conditions.

To participate in this study, you must be at least 18 years old and have a confirmed diagnosis of late-onset Pompe disease, inclusion body myositis, spinal muscular atrophy type 3, or facio-scapulo-humeral muscle dystrophy. Participants should be able to sign consent forms and complete study-related assessments. If you decide to join, you'll undergo evaluations that might help improve understanding of muscle pain in these conditions. It’s important to note that if you are currently depressed or involved in another clinical study, you may not be eligible to participate.

Gender

ALL

Eligibility 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