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Biomarker for GM1/GM2 - Gangliosidoses (BioGM1BioGM2)

This study is currently recruiting participants.
Verified October 2017 by Prof. Dr. Arndt Rolfs, University of Rostock
Sponsor:
ClinicalTrials.gov Identifier:
NCT02298647
First Posted: November 24, 2014
Last Update Posted: October 12, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock
  Purpose
Development of a new MS-based biomarker for the early and sensitive diagnosis of metachromatic leukodystrophy disease from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Condition
Gangliosidosis GM1-Gangliosidosis GM2-Gangliosidosis Hexosaminidase Activator Deficiency Tay-Sachs Disease, AB Variant Hexosaminidase A and B Deficiency Sandhoff Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for GM1/GM2-Gangliosidoses - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Resource links provided by NLM:


Further study details as provided by Prof. Dr. Arndt Rolfs, University of Rostock:

Primary Outcome Measures:
  • Development of a new MS-based biomarker for the early and sensitive diagnosis of GM1/GM2 -gangliosidoses from plasma and saliva using [ Time Frame: 36 month ]

Secondary Outcome Measures:
  • Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 month ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry 10ml EDTA blood, sputum tube and a dry blood spot filter card are taken. To proof the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)

Estimated Enrollment: 50
Study Start Date: November 2014
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: November 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Observation
Patients with a diagnosis of Gangliosidosis type GM1/GM2 based upon biochemical and/or genetic criteria or profound suspicion for Gangliosidosis type GM1/GM2

  Show Detailed Description

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   2 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with GM1/GM2- Gangliosidoses or high-grade suspicion for GM1/GM2 -Gangliosidoses
Criteria

Inclusion Criteria:

  • Informed consent will be obtained from the parents before any study related proce-dures.
  • Patients of both genders aged 2 months and older
  • The patient has a diagnosis of GM1/GM2 -gangliosidoses or a high-grade suspicion for GM1/GM2 -gangliosidoses

High-grade suspicion for GM1 or GM2 pre-sent, if one or more inclusion criteria are valid:

  • Positive family anamnesis for GM1 or GM2 disease
  • Neurodegenerative symptoms
  • Skeletal symptoms
  • Cherry Red Spot

Exclusion Criteria:

  • No Informed consent from the parents be-fore any study related procedures.
  • No diagnosis of GM1/GM2 disease or no valid criteria for profound suspicion of GM1/GM2 -disease
  • Patients of both genders younger than 2 months
  Contacts and Locations
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): NCT02298647


Contacts
Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke +49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de

Locations
Germany
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, Prof.    +49 381 494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, Prof. University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
  More Information

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT02298647     History of Changes
Other Study ID Numbers: BGM 03-2014
First Submitted: October 23, 2014
First Posted: November 24, 2014
Last Update Posted: October 12, 2017
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Lysosomal Storage Diseases

Additional relevant MeSH terms:
Gangliosidoses
Gangliosidoses, GM2
Gangliosidosis, GM1
Tay-Sachs Disease
Sandhoff Disease
Tay-Sachs Disease, AB Variant
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders