Clinical Trial: Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

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.

Detailed Summary:

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.

Current Primary Outcome: Gastrointestinal Transit time measured via SmartPill study [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

• 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
• 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.

Original Secondary Outcome: Same as current

Information By: Massachusetts General Hospital

Dates:
Date Received: June 3, 2016
Date Started: May 2016
Date Completion: December 2019
Last Updated: April 19, 2017
Last Verified: April 2017