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Status:

WITHDRAWN

Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)

Lead Sponsor:

CENTOGENE GmbH Rostock

Conditions:

Skeletal Abnormalities

Psychomotor Retardation

Eligibility:

All Genders

2+ years

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis Disorder type I,II,III or IV from blood (plasma)

Detailed Description

Mucolipidoses (ML) are a group of inherited metabolic diseases in which both glycosaminoglycans (GAGs) and another group of substances called sphingolipids build up in the body. GAGs are long, repeati...

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 month
  • The patient has a diagnosis of Mucolipidosis Disorder type I,II,III or IV or high-grade suspicion for Mucolipidosis Disorder type I,II,III or IV
  • High-grade suspicion present, if one or more inclusion criteria are valid:
  • Positive family anamnesis for Mucolipidosis Disorder type I,II,III or IV
  • Skeletal abnormalities
  • Psychomotor retardation
  • Progressive failure to thrive
  • Hoarse voice
  • EXCLUSION CRITERIA
  • No Informed consent from the parents before any study related procedures.
  • Patients of both genders younger than 2 month
  • No diagnosis of Mucolipidosis Disorder type I,II,III or IV or no valid criteria for profound suspicion of Mucolipidosis Disorder type I,II,III or IV

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

    NCT02298673

    Start Date

    August 20 2018

    End Date

    February 28 2021

    Last Update

    February 13 2023

    Active Locations (5)

    Enter a location and click search to find clinical trials sorted by distance.

    Page 1 of 2 (5 locations)

    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

    NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap

    Mumbai, India, 400705