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

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ClinicalTrials.gov Identifier: NCT02298673
Recruitment Status : Not yet recruiting
First Posted : November 24, 2014
Last Update Posted : August 28, 2018
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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)

Condition or disease
Skeletal Abnormalities Psychomotor Retardation

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Estimated Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021

Resource links provided by the National Library of Medicine


Group/Cohort
Observation
Patients with Mucolipidosis Disorder type I,II,III or IV or high-grade suspicion for Mucolipidosis Disorder type I,II,III or IV



Primary Outcome Measures :
  1. 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). [ Time Frame: 12 months ]

Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker. [ Time Frame: 24 months ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry 10 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct mucolipidosis disorder type I, II, III or IV diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of mucolipidosis disorder type I, II, III or IV will be done. The analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany


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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Mucolipidosis Disorder type I,II,III or IV or high-grade suspicion for Mucolipidosis Disorder type I,II,III or IV
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02298673


Contacts
Contact: Anton Mamin, Dr. +49 381 80113 535 Anton.Mamin@centogene.com
Contact: Sanjeev Kumar, Dr. +49 381 80113 591 sanjeev.kumar@centogene.com

Locations
Germany
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock Not yet recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, Prof.    +49 381 494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Sub-Investigator: Anne Katrin Giese, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02298673     History of Changes
Other Study ID Numbers: BML 06-2018
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Centogene AG Rostock:
Mucolipidosis Disorder type I,II,III, IV
Biomarker

Additional relevant MeSH terms:
Mucolipidoses
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases