Patients with Sanfilippo Type A-B-C-D disease or high-grade suspicion for Sanfilippo Type A-B-C-D disease

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

Mental Retardation

Developmental Delay

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Children's Hospital, Faculty of Medicine, Ain Shams University

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

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

Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

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.

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.

mucopolysaccharidosis iii/ataksiya

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

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