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Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02798458
Recruitment Status : Recruiting
First Posted : June 14, 2016
Last Update Posted : February 24, 2021
Information provided by (Responsible Party):
Branden Kuo, Massachusetts General Hospital

Brief 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.

Condition or disease Intervention/treatment Phase
Fabry's Disease Device: Smartpill Procedure: Endoscopic Mucosal Resection Not Applicable

Detailed Description:

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 50 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Study Start Date : May 2016
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : December 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Endoscopy

Arm Intervention/treatment
Experimental: SmartPill Test
All subjects will be asked to complete a SmartPill test. The SmartPill capsule is pill-shaped and about an inch long and ½ inch wide, or about the size of a vitamin pill. The receiver unit is about the size of a paperback book. The receiver gets signals from the capsule and stores the signals on a computer chip. The capsule detects the level of acidity, temperature, and pressures in your stomach and intestines and sends the information by radio wave signals to the receiver.
Device: Smartpill
The SmartPill Test is approved by the U.S. Food and Drug Administration (FDA) to measure transit time in the GI tract. This procedure uses the SmartPill capsule, a receiver, and computer software.

Experimental: Endoscopic Mucosal Resection
An additional small group of subjects will also be asked to complete a Sigmoidoscopy (an exam used to evaluate the lower part of the large intestine) during which an Endoscopic Mucosal Resection (removal of a small amount of tissue from the outermost layer of gut wall) will be completed. In the Endoscopy Mucosal Resection (EMR) procedure we will use an instrument called an endoscope (a lighted, flexible tube) to take a tissue sample from the rectum. This is the same type of instrument used in a routine colonoscopy
Device: Smartpill
The SmartPill Test is approved by the U.S. Food and Drug Administration (FDA) to measure transit time in the GI tract. This procedure uses the SmartPill capsule, a receiver, and computer software.

Procedure: Endoscopic Mucosal Resection
a Sigmoidoscopy is an exam used to evaluate the lower part of the large intestine) during which an Endoscopic Mucosal Resection (removal of a small amount of tissue from the outermost layer of gut wall) will be completed.

Primary Outcome Measures :
  1. Gastrointestinal Transit time measured via SmartPill study [ Time Frame: 2 years ]
    The primary outcome of dysmotility will be the measurement of transit time via a SmartPill study. The transit time will be reported as gastric time, small bowel time and colonic time in additional to total transit time.

Secondary Outcome Measures :
  1. Gastrointestinal symptom assessment via questionnaires [ Time Frame: 2 years ]
    Participants will complete several questionnaires during study participation regarding gastrointestinal symptoms (lower and upper GI). These results will be used to determine overall gastrointestinal involvement and will be correlated with transit time and histologic findings

  2. Extent of injury and deposition in rectal tissue via histologic assessment [ Time Frame: 2 years ]
    Via deep specimen biopsies the extent of deposits and injury will be assessed. Deposit quantification will be determined based on a scale use previously for analysis in Fabry disease (0 No deposit, +deposit present in a few cells, ++ deposits present in some cells, +++ deposits present in many cells). Additionally, the specimens will be assessed for presence or absence of neuronal swelling, myelination, vascular sclerosis, intimal fibrosis and hypertrophy of the smooth muscles of the arterioles. The results of analysis of all specimens will be compared to healthy aged-matched controls obtained from banked specimens in the pathology department.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02798458

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Contact: Claire Zar-Kessler, MD 617-726-0196

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United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Fatima U Rao, BA    617-724-0480   
Sponsors and Collaborators
Massachusetts General Hospital
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Principal Investigator: Braden Kuo, MD Massachusetts General Hospital
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Responsible Party: Branden Kuo, Instructor in Medicine, Massachusetts General Hospital Identifier: NCT02798458    
Other Study ID Numbers: 2015P000097
First Posted: June 14, 2016    Key Record Dates
Last Update Posted: February 24, 2021
Last Verified: February 2021
Keywords provided by Branden Kuo, Massachusetts General Hospital:
Fabry's Disease
Additional relevant MeSH terms:
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Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders