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

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.
ClinicalTrials.gov Identifier: NCT02298686
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : May 14, 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 Sanfilippo Disease Type A-B-C-D from blood (plasma)

Condition or disease
Mental Retardation Developmental Delay

  Show Detailed Description

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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
Actual 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 ]
    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-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
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Contact: Arndt Rolfs, Prof +4938180113500 ext 500 arndt.rolfs@centogene.com

Locations
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Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Germany
Centogene AG Recruiting
Rostock, Germany, 18055
Contact: Arndt Rolfs, Prof.       arndt.rolfs@centogene.com   
Contact: Sanjeev Kumar       sanjeev.kumar@centogene.com   
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Pakistan
Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.         
Contact: Nadeem Anjum, MD         
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: NCT02298686     History of Changes
Other Study ID Numbers: BSF01-2014
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: May 14, 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:
Sanfilippo Disease Type A-B-C-D
Biomarker

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