Screening of Fabry Disease in Patients With GI Symptoms

NCT04184986 | Unknown

• 1 other identifier: 1
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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

Fabry Disease

Keywords

Fabry Disease, gastrointestinal, GI symptoms, screening

Outcome Measures

Primary Outcomes (1)

• prevalence of Fabry disease in GI symptomatic patients

  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.

  1 year

Study Arms (2)

inflammatory bowel disease

100-150 pts with dg. inflammatory bowel disease

Diagnostic Test: dry blood test

unspecific GI symptoms

100-150 pts unspecific GI symptoms

Diagnostic Test: dry blood test

Interventions

dry blood test DIAGNOSTIC_TEST

screening test for Fabry disease

inflammatory bowel disease; unspecific GI symptoms

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

GI symptaomatic patients seen by gastroenetologists for their GI symptoms

You may qualify if:

• years old males, females
• ICF sign
• GI symptoms and/or inflammatory bowel disease

You may not qualify if:

• do not agree with dry blod test or genetic testing

Sponsors & Collaborators

• General University Hospital, Prague: lead
• Charles University, Czech Republic: collaborator
• Klinické centrum ISCARE: collaborator
• Amicus Therapeutics: collaborator

Study Sites (1)

General Teaching Hospital

Prague, 12808, Czechia

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

dry blood test

MeSH Terms

Conditions

Fabry Disease

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

Study Officials

• gabriela Dostálová, MD, PhD.

  General University Hospital, Prague

  STUDY DIRECTOR

• Ales Linhart, prof., MD.

  General University Hospital, Prague

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gabriela Dostálová, MD, PhD.

CONTACT

+420731239397; gabriela.dostalova@vfn.cz

Denisa Ebelová, Bc.

CONTACT

+420224962607; denisa.ebelova@vfn.cz

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 1, 2019
• First Posted: December 4, 2019
• Study Start: September 1, 2019
• Primary Completion: September 1, 2020
• Study Completion: December 1, 2020
• Last Updated: February 6, 2020

Record last verified: 2020-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: 2 years
• Access Criteria: email ask

Locations

CZ (1)