Decentrialz logo
  • HIPAA Compliant
  • ISO 27001 Certified
Find Trials
About UsContact
Become a Volunteer+1 877 705 1914

Status:

WITHDRAWN

Biomarker for Hurler Disease (BioHurler)

Lead Sponsor:

CENTOGENE GmbH Rostock

Conditions:

Mucopolysaccharidosis Type I

Gargoylism

Eligibility:

All Genders

2+ years

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Detailed Description

Hurler disease - MPS I- (mucopolysaccharidosis I) is an inherited lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase, a lysosomal enzyme normally required for the breakdown of ce...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA
  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both gender older than 2 month
  • The patient has a diagnosis of Hurler disease or a high-grade suspicion for Hurler disease
  • High-grade suspicion present, if one or more inclusion criteria are valid:
  • \- Positive family anamnesis for Hurler disease
  • \- Macrocephaly
  • \- Deformed bones and stiff joints, especially the spine, hips, knees, wrists and fingers
  • \- Musculoskeletal alterations including short stature
  • \- Developmental delay and/or progressive mental deterioration
  • EXCLUSION CRITERIA
  • No Informed consent from the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Hurler disease or no valid criteria for profound suspicion of Hurler 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

    NCT02298712

    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

    Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

    Mumbai, India, 400705