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Screening for Fabry Disease in a Pediatric Population at Risk

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02152189
Recruitment Status : Completed
First Posted : June 2, 2014
Last Update Posted : December 13, 2017
Information provided by (Responsible Party):
Markus Ries, MD PhD MHSc FCP, University Hospital Heidelberg

Brief Summary:
The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities

Condition or disease Intervention/treatment
Chronic Pain in the Extremities Chronic Abdominal Pain Fabry Disease Other: Screening for Fabry disease

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Study Type : Observational
Actual Enrollment : 1422 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Study Start Date : May 2014
Actual Primary Completion Date : May 2017
Actual Study Completion Date : November 2017

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
Screening population Other: Screening for Fabry disease

Primary Outcome Measures :
  1. Prevalence of Fabry disease [ Time Frame: day 1 ]

Secondary Outcome Measures :
  1. Prevalence of Fabry disease in predefined sub-populations [ Time Frame: day 1 ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Children with rheumatological disorders or chronic abdominal pain

Inclusion Criteria:

  • Age below 18 years
  • One of the following criteria:

    • Diagnosis or suspicion of a rheumatological disorder with recurrent complaints for more than 6 months
    • Chronic, recurrent abdominal pain for more than 6 months
  • Planned blood sample for routine diagnostics
  • Written informed consent

Exclusion Criteria:

- Patient and/or the patient's parent(s) or legal guardian(s) are unable to understand the nature, scope, and possible consequences of the screening.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02152189

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Zentrum für Kinder- und Jugendmedizin
Heidelberg, Germany
Sponsors and Collaborators
University Hospital Heidelberg
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Markus Ries, MD PhD MHSc FCP, Professor, University Hospital Heidelberg Identifier: NCT02152189    
Other Study ID Numbers: Fabry screening 02202014
S-084/2014 ( Other Identifier: IRB Heidelberg )
First Posted: June 2, 2014    Key Record Dates
Last Update Posted: December 13, 2017
Last Verified: December 2017
Additional relevant MeSH terms:
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Fabry Disease
Chronic Pain
Abdominal Pain
Neurologic Manifestations
Signs and Symptoms, Digestive
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
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders