Screening for Fabry Disease in a Pediatric Population at Risk

NCT02152189 | Completed

• 2 other identifiers: Fabry screening 02202014S-084/2014
• Study Type: observational
• Target: 1,422
• Locations: 1 country
• Sites: 1

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

Conditions

Chronic Pain in the Extremities; Chronic Abdominal Pain; Fabry Disease

Outcome Measures

Primary Outcomes (1)

• Prevalence of Fabry disease

  day 1

Secondary Outcomes (1)

• Prevalence of Fabry disease in predefined sub-populations

  day 1

Study Arms (1)

Screening population

Other: Screening for Fabry disease

Interventions

Screening for Fabry disease OTHER

Screening population

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Children with rheumatological disorders or chronic abdominal pain

You may qualify if:

• 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

You may not qualify if:

• \- 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.

Sponsors & Collaborators

• University Hospital Heidelberg: lead

Study Sites (1)

Zentrum für Kinder- und Jugendmedizin

Heidelberg, Germany

Location

Related Publications (2)

• Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15.

  PMID: 15713906 BACKGROUND

• Kastner B, Behre S, Lutz N, Burger F, Luntz S, Hinderhofer K, Bendszus M, Hoffmann GF, Ries M. Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses. PLoS One. 2015 Aug 14;10(8):e0135997. doi: 10.1371/journal.pone.0135997. eCollection 2015.

  PMID: 26275228 DERIVED

MeSH Terms

Conditions

Fabry Disease

Interventions

Mass Screening

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

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 22, 2014
• First Posted: June 2, 2014
• Study Start: May 1, 2014
• Primary Completion: May 1, 2017
• Study Completion: November 1, 2017
• Last Updated: December 13, 2017

Record last verified: 2017-12

Locations

DE (1)