Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
| Status: | Recruiting |
|---|---|
| Conditions: | Metabolic |
| Therapuetic Areas: | Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | 18 - 70 |
| Updated: | 8/18/2018 |
| Start Date: | May 2016 |
| End Date: | December 2020 |
| Contact: | Claire Zar-Kessler, MD |
| Email: | czarkessler@mgh.harvard.edu |
| Phone: | 617-726-0196 |
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.
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.
Background: Gastrointestinal manifestations such as abdominal pain, diarrhea and nausea are
prominent and, although typically non life-threatening, can frequently cause significant
morbidity and burden in a patient with Fabry disease. Additional in depth understanding of
gastrointestinal symptoms pathophysiology in Fabry disease is acutely needed in order to
develop more specific evaluation of the symptoms and advance the treatment of these patients.
Hypothesis: Patients with gastrointestinal (GI) symptoms will have delayed motility on the
SmartPill study, abnormal histologic findings on mucosal resection and symptoms that
correlate with abnormal histologic and SmartPill findings. By gaining additional insight into
the characterization of symptoms and the relationship to dysmotility, we anticipate improved
and more focused adjunct therapies for the patients.
Methods: This study will consist of a screening visit, a SmartPill testing procedure visit,
and a follow up visit for all subjects enrolled in the study. Fifteen of these patients, who
clinically warranted sigmoidoscopy, will be asked to also complete an endoscopic mucosal
resection (EMR) visit in addition to the other aspects of the study. Thus, each subject will
report to the study site for at least 3 visits and up to 4 visits.
prominent and, although typically non life-threatening, can frequently cause significant
morbidity and burden in a patient with Fabry disease. Additional in depth understanding of
gastrointestinal symptoms pathophysiology in Fabry disease is acutely needed in order to
develop more specific evaluation of the symptoms and advance the treatment of these patients.
Hypothesis: Patients with gastrointestinal (GI) symptoms will have delayed motility on the
SmartPill study, abnormal histologic findings on mucosal resection and symptoms that
correlate with abnormal histologic and SmartPill findings. By gaining additional insight into
the characterization of symptoms and the relationship to dysmotility, we anticipate improved
and more focused adjunct therapies for the patients.
Methods: This study will consist of a screening visit, a SmartPill testing procedure visit,
and a follow up visit for all subjects enrolled in the study. Fifteen of these patients, who
clinically warranted sigmoidoscopy, will be asked to also complete an endoscopic mucosal
resection (EMR) visit in addition to the other aspects of the study. Thus, each subject will
report to the study site for at least 3 visits and up to 4 visits.
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:
1. Fabry disease with other concomitant gastrointestinal diagnosis (Example:
Inflammatory Bowel Disease, Celiac Disease)
2. Pregnancy
3. Endoscopic mucosal resection exclusions:
1. Any contraindication to conscious sedation,
2. Contraindication to endoscopy,
3. Untreated or unmanageable coagulopathy,
4. Thrombocytopenia (<50).
5. Patient on ERT for more than 6 months.
4. Exclusions for SmartPill:
1. Previous history of bezoars.
2. Prior GI surgery except for cholecystectomy, appendectomy, or Nissen
fundoplication.
3. Any abdominal surgery within the past 3 months
4. History of diverticulitis, diverticular stricture, and other intestinal
strictures
5. Tobacco use within eight hours prior to capsule ingestion and during the initial
8-hour recording on Day 0 or the Ingestion visit.
6. Alcohol use within eight hours prior to capsule ingestion and throughout the
entire monitoring period (5 days).
7. BMI > 38
8. Allergies to components of the SmartBar
9. Use of medical devices such as pacemakers, infusion pumps, or insulin pumps.
10. Uncontrolled diabetes with a hemoglobin A1C greater than 10.
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Phone: 617-724-0480
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