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Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2) (BioGM1/BioGM2)

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ClinicalTrials.gov Identifier: NCT02298647
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : September 17, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood

Condition or disease
Hepato-splenomegaly Dysostosis Multiplex Seizures Mental Retardation

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021


Group/Cohort
Observation
Patients with GM1/GM2-Gangliosidosis or high-grade suspicion for GM1/GM2-Gangliosidosis



Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of GM1/GM2-Gangliosidosis from blood [ Time Frame: 24 months ]
    New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.


Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]
    the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.


Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectometry, maximal 10 ml blood will be taken via using a dry blood spot filter card. To proof the cor-rect GM1/GM2 diagnosis in those patients where up to the enrollment into the study no genetic testing has been done, sequencing of GM1/GM2 will be done.

The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany



Information from the National Library of Medicine

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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-Gangliosidosis or high-grade suspicion for GM1/GM2-Gangliosidosis
Criteria

INCLUSION CRITERIA:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both genders aged 2 months and older
  • The patient has a diagnosis of GM1/GM2-Gangliosidosis or a high-grade suspicion for GM1/GM2-Gangliosidosis
  • High-grade suspicion for GM1 or GM2 present, 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 before 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 ClinicalTrials.gov identifier (NCT number): NCT02298647


Contacts
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Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
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Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.    +201006049054    lselim83@gmail.com   
Principal Investigator: Laila Selim, Prof.         
Germany
Centogene AG Active, not recruiting
Rostock, Germany, 18055
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.    +91 484 2851234    sheelanampoothiri@aims.amrita.edu   
Principal Investigator: Sheela Nampoothiri         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.    +91-22-67910236    jalananil12@gmail.com   
Principal Investigator: Anil Jalan, MD         
Pakistan
Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.    +92 3009447550    pedgilahore@gmail.com   
Contact: Nadeem Anjum, MD       nadeemanjum1900@yahoo.com   
Sub-Investigator: Nadeem Anjum, MD         
Principal Investigator: Huma Arshad Cheema, Prof.         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02298647     History of Changes
Other Study ID Numbers: BioGM1 / BioGM2
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: September 17, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Gangliosidosis
Biomarker
Additional relevant MeSH terms:
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Dysostoses
Seizures
Intellectual Disability
Gangliosidoses
Splenomegaly
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurobehavioral Manifestations
Neurodevelopmental Disorders
Mental Disorders
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Hypertrophy
Pathological Conditions, Anatomical
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases