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Screening of Fabry Disease in Patients With GI Symptoms

NCT04184986 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2020-02-06

No results posted yet for this study

Summary

Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular, is a project designed as a pilot study of Centre for Fabry disease, General University Hospital in Prague, and Clinical Centre ISCARE Prague, focused on improving the diagnosis and care of patients with Fabry disease in the Czech Republic.

Fabry disease, (FD) is an X-linked inherited, rare, progressive disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. The earlier diagnosis is made the earlier treatment is started the better outcome patients have.

There are screening programs in cardiology, nephrology, neurology or ophtalmology fields. But not only cardiovascular, renal or eye symptoms are present. Very common are also GI symptoms in Fabry disease patient population. This is the first screening of FAbry disease in GI symptom patients.

Conditions

Interventions

DIAGNOSTIC_TEST

dry blood test

screening test for Fabry disease

Sponsors & Collaborators

  • Charles University, Czech Republic

    collaborator OTHER

  • Klinické centrum ISCARE

    collaborator UNKNOWN

  • Amicus Therapeutics

    collaborator INDUSTRY

  • General University Hospital, Prague

    lead OTHER

Principal Investigators

  • gabriela Dostálová, MD, PhD. · General University Hospital, Prague

  • Ales Linhart, prof., MD. · General University Hospital, Prague

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-01
Primary Completion
2020-09-01
Completion
2020-12-01

Countries

  • Czechia

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04184986 on ClinicalTrials.gov