N/A
Completed N=48
Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Fabry's Disease
Source: ClinicalTrials.gov NCT02798458 ↗
Enrolled (actual)
48
Serious AEs
0.0%
Results posted
Mar 2023
Primary outcomePrimary: Gastric Emptying Transit Time Measured Via SmartPill Study — 2.9; 2.8 Hours
Summary
Patients will undergo a SmartPill test to gain additional understanding of Fabry disease manifestation via motility abnormalities in order to improve symptom targeted therapy. An additional Endoscopic mucosal resection may be performed on further qualifying patients. Tissue analysis from this biopsy will include evaluation of abnormalities of cellular structure and morphology with correlation with gastrointestinal complaints for each patient and comparison against age matched non-Fabry patient tissue. The hypothesis is that patients with fabry disease will have abnormal motility which will correlate with the patients symptoms and quality of life as noted on the questionnaires.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Gastric Emptying Transit Time Measured Via SmartPill Study |
2.9; 2.8 | — |
| PRIMARY Small Bowel Transit Time Measured Via SmartPill Study |
4.3; 4.5 | — |
| PRIMARY Colonic Transit Time Measured Via SmartPill Study |
38.1; 21.3 | — |
| SECONDARY Gastrointestinal Symptom Assessment and Quality of Life, Work, and Productivity Via Questionnaires |
25; 17; 14; 16; 20; 11 | — |
| SECONDARY Age of Symptom Start |
15; 10; 25; 10; 16; 10 | — |
| SECONDARY Delayed Gastric Emptying Measured Via SmartPill Study |
3; 2 | — |
| SECONDARY Delayed Small Bowel Transit Measured Via SmartPill Study |
1; 2 | — |
| SECONDARY Delayed Colonic Transit Measured Via SmartPill Study |
8; 2 | — |
| SECONDARY Symptom Severity Index |
6; 2; 6.5; 4; 3.5; 2 | — |
| SECONDARY Symptom Frequency Assessment (SFA) |
1; 2.5; 5.5; 16 | — |
| SECONDARY Hamilton Anxiety Rating Scale (HAM-A) |
16.5; 16.5 | — |
| SECONDARY Beck's Depression Inventory (BDI) |
10.5; 6.5 | — |
| SECONDARY Work Productivity and Activity Impairment (WPAI) |
0; 0; 20; 10; 20; 10 | — |
| SECONDARY IBS Quality of Life (IBS QoL) and Sub-scores |
85.7; 85.7; 57.1; 46.4; 68.8; 87.5 | — |
| SECONDARY Bristol Stool Scale |
4; 6 | — |
Eligibility Criteria
Inclusion Criteria
- Adults ages 18-70 years who have diagnosed Fabry disease either by enzyme testing in males or by enzyme and/or genetically confirmed mutation in females.
- Adults with Fabry disease having any gastrointestinal complaints within the past year.
- Endoscopic Mucosal Resection ONLY - Symptomatic subjects necessitating a sigmoidoscopy who are enzyme replacement therapy (ERT) naive OR less than 6 months of treatment.
Exclusion Criteria
- Fabry disease with other concomitant gastrointestinal diagnosis (Example:
Inflammatory Bowel Disease, Celiac Disease)
- Pregnancy
- Endoscopic mucosal resection exclusions:
- Any contraindication to conscious sedation,
- Contraindication to endoscopy,
- Untreated or unmanageable coagulopathy,
- Thrombocytopenia ( 38
- Allergies to components of the SmartBar
- Use of medical devices such as pacemakers, infusion pumps, or insulin pumps.
- Uncontrolled diabetes with a hemoglobin A1C greater than 10.
Data sourced from ClinicalTrials.gov (NCT02798458). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.