Status:
WITHDRAWN
Biomarker for Sanfilippo Type A-B-C-D Disease (BioSanfilippo)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Mental Retardation
Developmental Delay
Eligibility:
All Genders
2+ years
Brief Summary
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of Sanfilippo Disease Type A-B-C-D from blood (plasma)
Detailed Description
The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients of both genders older than 2 month
- The patient has a diagnosis of Sanfilippo Type A-B-C-D disease or a high-grade suspicion for Sanfilippo Type A-B-C-D disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Sanfilippo Type A-B-C-D disease
- Dysostosis multiplex without identifiable cause
- Splenomegaly without identifiable cause
- Hepatomegaly without identifiable cause
- Heparan sulfate excretion in urine
- CNS involvement without identifiable cause
- EXCLUSION CRITERIA:
- No Informed consent from the patient or the parents before any study related procedures.
- Patients of both gender younger than 2 month
- No diagnosis of Sanfilippo Type A-B-C-D disease or no valid criteria for profound suspicion of Sanfilippo Type A-B-C-D disease
Exclusion
Key Trial Info
Start Date :
August 20 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 28 2021
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT02298686
Start Date
August 20 2018
End Date
February 28 2021
Last Update
February 13 2023
Active Locations (5)
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1
Children's Hospital, Faculty of Medicine, Ain Shams University
Cairo, Egypt, 89075
2
Centogene AG
Rostock, Germany, 18055
3
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, India, 682041
4
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, India, 400705