Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

NCT02798458 | Completed Results DMC

• 1 other identifier: 2015P000097
• Study Type: interventional
• Target: 48
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry's Disease

Keywords

Fabry's Disease; Fabry

Outcome Measures

Primary Outcomes (3)

• Gastric Emptying Transit Time Measured Via SmartPill Study

  The primary outcome of dysmotility will be the measurement of gastric emptying transit time via a SmartPill study. Delayed GET are defined as longer than 5 hours.

  Up to 5 hours

• Small Bowel Transit Time Measured Via SmartPill Study

  The primary outcome of dysmotility will be the measurement of small bowel transit time via a SmartPill study. Delayed SBTT are defined as longer than 6 hours.

  Up to 6 hours

• Colonic Transit Time Measured Via SmartPill Study

  The primary outcome of dysmotility will be the measurement of colonic transit time via a SmartPill study. Delayed CTT is defined as longer than 59 hours.

  Up to 67 hours

Secondary Outcomes (12)

• Gastrointestinal Symptom Assessment and Quality of Life, Work, and Productivity Via Questionnaires

  Up to 4 weeks

• Age of Symptom Start

  Up to 4 weeks

• Delayed Gastric Emptying Measured Via SmartPill Study

  Up to 5 hours

• Delayed Small Bowel Transit Measured Via SmartPill Study

  Up to 6 hours

• Delayed Colonic Transit Measured Via SmartPill Study

  Up to 67 hours

Study Arms (2)

SmartPill Test

EXPERIMENTAL

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

Endoscopic Mucosal Resection

EXPERIMENTAL

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; Procedure: Endoscopic Mucosal Resection

Interventions

Smartpill DEVICE

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.

Endoscopic Mucosal Resection; SmartPill Test

Endoscopic Mucosal Resection PROCEDURE

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.

Endoscopic Mucosal Resection

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• Fabry disease with other concomitant gastrointestinal diagnosis (Example:
• Inflammatory Bowel Disease, Celiac Disease)
• Pregnancy
• Any contraindication to conscious sedation,
• Contraindication to endoscopy,
• Untreated or unmanageable coagulopathy,
• Thrombocytopenia (\<50).
• Patient on ERT for more than 6 months.
• Previous history of bezoars.
• Prior GI surgery except for cholecystectomy, appendectomy, or Nissen fundoplication.
• Any abdominal surgery within the past 3 months
• History of diverticulitis, diverticular stricture, and other intestinal strictures
• Tobacco use within eight hours prior to capsule ingestion and during the initial 8-hour recording on Day 0 or the Ingestion visit.
• Alcohol use within eight hours prior to capsule ingestion and throughout the entire monitoring period (5 days).
• BMI \> 38

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Related Publications (1)

• Bar N, Karaa A, Kiser K, Kuo B, Zar-Kessler C. Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life. Clin Transl Gastroenterol. 2023 Dec 1;14(12):e00633. doi: 10.14309/ctg.0000000000000633.

  PMID: 37578052 DERIVED

MeSH Terms

Conditions

Fabry Disease

Interventions

Endoscopic Mucosal Resection

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Endoscopy, Gastrointestinal; Endoscopy, Digestive System; Diagnostic Techniques, Digestive System; Diagnostic Techniques and Procedures; Diagnosis; Endoscopy; Diagnostic Techniques, Surgical; Digestive System Surgical Procedures; Surgical Procedures, Operative; Minimally Invasive Surgical Procedures

Results Point of Contact

• Title: Dr. Braden Kuo and Dr. Claire-Zar-Kessler
• Organization: Massachusetts General Hospital

bkuo@mgh.harvard.edu, czarkessler@mgh.harvard.edu

617-724-6038

Study Officials

• Braden Kuo, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Instructor in Medicine

Study Record Dates

• First Submitted: June 3, 2016
• First Posted: June 14, 2016
• Study Start: May 1, 2016
• Primary Completion: November 10, 2021
• Study Completion: November 1, 2022
• Last Updated: March 27, 2023
• Results First Posted: March 27, 2023

Record last verified: 2023-02

Locations

US (1)