Biomarker for GM1/GM2 - Gangliosidoses (BioGM1BioGM2)

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. Read our disclaimer for details. Identifier: NCT02298647
Recruitment Status : Active, not recruiting
First Posted : November 24, 2014
Last Update Posted : July 3, 2018
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

Brief Summary:
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 or disease
Gangliosidosis GM1-Gangliosidosis GM2-Gangliosidosis Hexosaminidase Activator Deficiency Tay-Sachs Disease, AB Variant Hexosaminidase A and B Deficiency Sandhoff Disease

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 137 participants
Observational Model: Cohort
Time Perspective: Prospective
Study Start Date : November 2014
Actual Primary Completion Date : July 2018
Estimated Study Completion Date : July 2018

Patients with a diagnosis of Gangliosidosis type GM1/GM2 based upon biochemical and/or genetic criteria or profound suspicion for Gangliosidosis type GM1/GM2

Primary Outcome Measures :
  1. 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 :
  1. 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)

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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 GM1/GM2- Gangliosidoses or high-grade suspicion for GM1/GM2 -Gangliosidoses

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

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 identifier (NCT number): NCT02298647

Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock
Rostock, Germany, 18147
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Principal Investigator: Arndt Rolfs, Prof. University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT02298647     History of Changes
Other Study ID Numbers: BGM 03-2014
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: July 3, 2018
Last Verified: July 2018
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:
Tay-Sachs Disease
Sandhoff Disease
Gangliosidoses, GM2
Gangliosidosis, GM1
Tay-Sachs Disease, AB Variant
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders