Screening for Fabry Disease in a Pediatric Population at Risk
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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. |
ClinicalTrials.gov Identifier: NCT02152189 |
Recruitment Status :
Completed
First Posted : June 2, 2014
Last Update Posted : December 13, 2017
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Condition or disease | Intervention/treatment |
---|---|
Chronic Pain in the Extremities Chronic Abdominal Pain Fabry Disease | Other: Screening for Fabry disease |
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 |

Group/Cohort | Intervention/treatment |
---|---|
Screening population |
Other: Screening for Fabry disease |
- Prevalence of Fabry disease [ Time Frame: day 1 ]
- Prevalence of Fabry disease in predefined sub-populations [ Time Frame: day 1 ]

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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 |
Inclusion Criteria:
- Age below 18 years
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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.

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 ClinicalTrials.gov identifier (NCT number): NCT02152189
Germany | |
Zentrum für Kinder- und Jugendmedizin | |
Heidelberg, Germany |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Markus Ries, MD PhD MHSc FCP, Professor, University Hospital Heidelberg |
ClinicalTrials.gov 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 |
Fabry Disease Chronic Pain Abdominal Pain Pain Neurologic Manifestations Signs and Symptoms, Digestive 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 Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |