Status:
WITHDRAWN
Biomarker for Sly Disease (MPS VII) (BioSly)
Lead Sponsor:
CENTOGENE GmbH Rostock
Conditions:
Developmental Delay
Skeletal Abnormalities
Eligibility:
All Genders
2+ years
Brief Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)
Detailed Description
Mucopolysaccharidosis type VII (also known as Sly syndrome or Sly disease) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. This enzyme is needed to break down substances in ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Informed consent will be obtained from the parents before any study related procedures
- Patients of both genders older than 2 months
- The patient has a diagnosis of Sly disease or a high-grade suspicion for Sly disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Sly disease
- Developmental delay and/or progressive mental deterioration
- Skeletal abnormalities
- Hepatomegaly
- Splenomegaly
- EXCLUSION CRITERIA:
- No Informed consent from the parents before any study related procedures.
- Patients of both genders younger than 2 months
- No diagnosis of Sly disease or no valid criteria for profound suspicion of Sly 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
NCT02298699
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