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Biomarker for Sanfilippo Type A-B-C-D Disease (BioSanfilippo)

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ClinicalTrials.gov Identifier: NCT02298686
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 ear-ly and sensitive diagnosis of Sanfilippo Disease Type A-B-C-D from blood (plasma)

Condition or disease
Mental Retardation Developmental Delay

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Estimated Study Start Date : August 20, 2018
Estimated Primary Completion Date : June 2021
Estimated Study Completion Date : June 2021


Group/Cohort
Observation
Patients with Sanfilippo Type A-B-C-D disease or high-grade suspicion for Sanfilippo Type A-B-C-D disease



Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of Sanfilippo Type A-B-C-D disease from plasma [ Time Frame: 24 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-spectrometry 10 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct Sanfilippo Type A-B-C-D diagnosis in those patients where up to the enrollment in the study no ge-netic testing has been done, sequencing of Sanfilippo Type A-B-C-D 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 Sanfilippo Type A-B-C-D disease or high-grade suspicion for Sanfilippo Type A-B-C-D disease
Criteria

INCLUSION CRITERIA:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 month
  • The patient has a diagnosis of Sanfilippo Type A-B-C-D disease or a high-grade suspicion for Sanfilippo Type A-B-C-D disease
  • High-grade suspicion present, if one or more inclusion criteria are valid:

    • Positive family anamnesis for Sanfilippo Type A-B-C-D disease
    • Dysostosis multiplex without identifiable cause
    • Splenomegaly without identifiable cause
    • Hepatomegaly without identifiable cause
    • Heparan sulfate excretion in urine
    • CNS involvement without identifiable cause

EXCLUSION CRITERIA:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Sanfilippo Type A-B-C-D disease or no valid criteria for profound suspicion of Sanfilippo Type A-B-C-D disease

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): NCT02298686


Contacts
Contact: Anton Mamin, Dr. +49 381 80113 535 Anton.Mamin@centogene.com
Contact: Volha Skrahina +49 381 80 113 594 Volha.Skrahina@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: NCT02298686     History of Changes
Other Study ID Numbers: BSF01-2014
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: June 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:
Sanfilippo Disease Type A-B-C-D
Biomarker

Additional relevant MeSH terms:
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders