Fabry's DiseaseNCT02798458
Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
A study testing Smartpill and Endoscopic Mucosal Resection in people with Fabry's Disease, run by Massachusetts General Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Fabry's Disease
- What is being tested?
- Smartpill and Endoscopic Mucosal Resection
- Type of treatment
- Pill or oral medicine, Medical device, Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 48 participants
- Where
- 1 siteUnited States
- Study dates
- May 2016to Nov 2022
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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,
Show all 20Show fewer
- Untreated or unmanageable coagulopathy,
- Thrombocytopenia (<50).
- Patient on ERT for more than 6 months.
- Exclusions for SmartPill:
- 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
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
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.
Read the 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.
- Conditions
- Fabry's Disease
- Being tested
- Smartpill, Endoscopic Mucosal Resection
- Keywords
- Fabry's Disease, Fabry
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SmartpillDevice
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 ResectionProcedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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 Receives: Device: Smartpill; Procedure: Endoscopic Mucosal Resection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: Up to 67 hours
Secondary outcomes (12)
Gastrointestinal Symptom Assessment and Quality of Life, Work, and Productivity Via Questionnaires
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
Measured: Up to 4 weeks
Age of Symptom Start
Measured: Up to 4 weeks
Delayed Gastric Emptying Measured Via SmartPill Study
The secondary outcome of dysmotility will be the measurement of delayed gastric emptying measured via a SmartPill study. Delayed GET are defined as longer than 5 hours.
Measured: Up to 5 hours
Delayed Small Bowel Transit Measured Via SmartPill Study
The secondary outcome of dysmotility will be the measurement of delayed bowel transit time via a SmartPill study. Delayed SBTT are defined as longer than 6 hours.
Measured: Up to 6 hours
Delayed Colonic Transit Measured Via SmartPill Study
The secondary outcome of dysmotility will be the measurement of delayed colonic transit time via a SmartPill study. Delayed CTT is defined as longer than 59 hours.
Measured: Up to 67 hours
Symptom Severity Index
Patient reported severity of certain symptoms over the last 4 weeks on a scale of 0 to 10 (bloating, abdominal discomfort, incomplete evacuation, straining and urgency). Higher score would mean worse (more symptoms) outcome.
Measured: At 67 hours, data reported over the last 4 weeks
Symptom Frequency Assessment (SFA)
Patients reported the number of complete BMs they had during the last week (minimum could be 0 and the maximum could be any number greater than 0). Higher/lower scores could be the better or worse outcome (e.g., 0 bowel movements all week would be a worse outcome but over 10 bowel movements would be worse as well), it just depends on the extent.
Measured: At 67 hours, data reported over the last 7 days
Hamilton Anxiety Rating Scale (HAM-A)
The scale consists of 14 items, each defined by a series of symptoms, and measures both psychic anxiety (mental agitation and psychological distress) and somatic anxiety (physical complaints related to anxiety). Each item is scored on a scale of 0 (not present) to 4 (severe), with a total score range of 0-56, where <7 indicates no or minimal severity, 8-14 is mild anxiety, 15-23 is moderate anxiety and 24 and worse is severe anxiety 5. Moderate-severe anxiety was defined as a score of 15 and above.
Measured: At 4 weeks
Beck's Depression Inventory (BDI)
Beck's Depression Inventory (BDI): is a 21-item tool assessing the existence and severity of symptoms of depression, as defined by the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM-IV; 1994). The items correspond to symptoms of depression and are a four-point scale for each item ranging from 0 to 3. They are summed to give a single BDI score between 0-63 (where higher results reflect more severe depression). Grades are 1-10: normal, 11-16: mild mood disturbance, 17-20: borderline clinical depression, 21-30: moderate depression, 31-40: severe depression, and >40 extreme depression 6. Moderate-severe depression was defined as a score of 21 and above.
Measured: At 4 weeks
Work Productivity and Activity Impairment (WPAI)
Work Productivity and Activity Impairment (WPAI): examines the effect of GI symptoms on loss of work time and loss of productivity. Patients indicated if they are unemployed. For employed patients, scores are presented as percentage of time lost during the last week (hours lost due to GI symptoms out of the hours that patient should have worked, excluding the time lost on participating in the study). Higher percentages indicate greater impairment. Work missed percentage, reduced productivity percentage, and work-productivity impairment percentage (combining the 2 scores) are calculated 7. We defined work/productivity impairment as either being unemployed or having lost 40% or more of work time or productivity. For employed patients, scores are presented as percentage of time lost during the last week (hours lost due to GI symptoms out of the hours that patient should have worked, excluding the time lost on participating in the study).
Measured: At 7 days
IBS Quality of Life (IBS QoL) and Sub-scores
Irritable bowel syndrome quality of life (IBS-QOL): Assesses bowel specific QOL. It consists of 34 items of a 5-point Likert scale. The total score is summed and then transformed to a 0-100 scale, where 0 is low QoL, and 100 is the best QoL. Different IBS-QOL items can also be categorized to eight subscale scores (Dysphoria, Interference with Activity, Body Image, Health Worry, Food Avoidance, Social Reaction, Sexual, Relationships). Note be made, that the IBS-QOL examines the effect of "bowel problems" on different aspect of QOL, and so was used to assess the effect of gut symptoms on the patients' QOL. Higher scores are better outcome.
Measured: At 4 weeks
Bristol Stool Scale
Bristol Stool Scale: patients indicate their last 7 days stool consistency on 1-7 visual scale. The Bristol stool scale correlates with colonic transit time. Higher scores do not indicate better or worse outcomes. It is a visual scale.
Measured: At 7 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2016 (estimated)
- Study startMay 2016
- Primary completion10 Nov 2021
- Study completionNov 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry's DiseaseStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Braden Kuo, Massachusetts General Hospital
- Investigators
- Braden Kuo, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02798458
- Sponsor's protocol ID
- 2015P000097
- Status last verified
- Feb 2023
- First submitted
- 3 Jun 2016
- Last updated
- 27 Mar 2023
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
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.
PubMed 37578052
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
- ClinicalTrials.gov ID
- NCT02798458
- Acronym / sponsor ID
- 2015P000097
- Conditions
- Fabry's Disease
- Keywords
- Fabry's Disease, Fabry
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- May 2016
- Primary completion
- 10 Nov 2021 (actual)
- Study completion
- Nov 2022 (actual)
- First posted
- 14 Jun 2016 (estimated)
- Results
- Posted 27 Mar 2023
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| SmartPill Test | Experimental | Device: SmartpillAll 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. |
| Endoscopic Mucosal Resection | Experimental | Device: Smartpill, Procedure: Endoscopic Mucosal ResectionAn 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 |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (20 listed)
- Fabry disease with other concomitant gastrointestinal diagnosis (Example:
- Inflammatory Bowel Disease, Celiac Disease)
- Pregnancy
- Endoscopic mucosal resection exclusions:
- Exclusions for SmartPill:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SmartpillThe 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. | Device | Endoscopic Mucosal Resection, SmartPill Test |
| Endoscopic Mucosal Resectiona 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. | Procedure or surgery | Endoscopic Mucosal Resection |
Primary outcome
Gastric Emptying Transit Time Measured Via SmartPill Study
Time frame: Up to 5 hours
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.
Small Bowel Transit Time Measured Via SmartPill Study
Time frame: Up to 6 hours
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.
Colonic Transit Time Measured Via SmartPill Study
Time frame: Up to 67 hours
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.
12 secondary outcomes
Gastrointestinal Symptom Assessment and Quality of Life, Work, and Productivity Via Questionnaires
Time frame: Up to 4 weeks
Age of Symptom Start
Time frame: Up to 4 weeks
Delayed Gastric Emptying Measured Via SmartPill Study
Time frame: Up to 5 hours
Delayed Small Bowel Transit Measured Via SmartPill Study
Time frame: Up to 6 hours
Delayed Colonic Transit Measured Via SmartPill Study
Time frame: Up to 67 hours
Symptom Severity Index
Time frame: At 67 hours, data reported over the last 4 weeks
Symptom Frequency Assessment (SFA)
Time frame: At 67 hours, data reported over the last 7 days
Hamilton Anxiety Rating Scale (HAM-A)
Time frame: At 4 weeks
Beck's Depression Inventory (BDI)
Time frame: At 4 weeks
Work Productivity and Activity Impairment (WPAI)
Time frame: At 7 days
IBS Quality of Life (IBS QoL) and Sub-scores
Time frame: At 4 weeks
Bristol Stool Scale
Time frame: At 7 days
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2023.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 37578052Bar 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Braden Kuo, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Smartpill and Endoscopic Mucosal Resection in people with Fabry's Disease, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 20 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 27 Mar 2023). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gastric Emptying Transit Time Measured Via SmartPill Study (time frame: Up to 5 hours). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02798458, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2023.