100-150 pts with dg. inflammatory bowel disease

Fabry Disease

dry blood test

General Teaching Hospital

Screening of Fabry Disease in Patients With GI Symptoms

The Czech National Fabry Disease Screening Study in Patients Diagnosed With Non-infectious Inflammatory Bowel Disease, Functional Dyspepsia or Irritable Bowel Syndrome

To assess prevalence of Fabry disease in GI symptomatic participants, alpha-galactosidase enzymatic activity will be determined in samples of dry blood spot of patients with some medical history of idiopathic inflammatory bowel disease, functional dyspepsia or irritable bowel syndrom in a study population of 500-800 patients.

after first 6 months first data available - number of screened/positive/negative pts

Gabriela Dostálová

Principal Investigator

General University Hospital, Prague

Charles University, Czech Republic

Klinické centrum ISCARE

Amicus Therapeutics

Migalastat administered according to SmPC

Universtiy Hospital Münster

German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.

Primary endpoint of the observational study is the change in left ventricular mass index (LVMI) over two years.

Incidence of transient/manifest cerebral ischemia or stroke over 24 months.

Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS)

Change in severity of neuropathic pain measured by Neuropathic Pain Symptom Inventory (NPSI) Score (items are quantified on a (0-10) numerical scale).

Change in disease severity measured by Mainz Severity Score Index (MSSI)

Change in disease severity measured by the Disease Severity Scoring System (DS3)

Change of White Matter Lesion load (quantified by WML volumetry [ml]).

Stabilization of cerebral microbleeds/hemorrhagic lesions.

Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS).

Change in quality of life (Short Form (SF-36) Health Survey: 36-item, patient-reported survey of patient health).

University Hospital Muenster

PRX-102

Placebo

Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease

A Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Patients

Protalix

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.

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

Fabry's Disease

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.

Smartpill

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

Massachusetts General Hospital

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

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.

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

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.

fabry disease/diarree

Screening of Fabry Disease in Patients With GI Symptoms

German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.

Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

Alternative Dosing and Regimen of Replagal to Treat Fabry Disease

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