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Clinical Trial Details — Status: Withdrawn

Administrative data

NCT number NCT02298699
Other study ID # BSLY 06-2018
Secondary ID
Status Withdrawn
Phase
First received
Last updated
Start date August 20, 2018
Est. completion date February 28, 2021

Study information

Verified date February 2023
Source CENTOGENE GmbH Rostock
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)


Description:

Mucopolysaccharidosis type VII (also known as Sly syndrome or Sly disease) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). If the enzyme is not present, GAGs cannot be broken down and they build up in the cells and damage them. This causes a wide range of problems such as short stature, skeletal abnormalities, joint stiffness, enlarged spleen and liver, lung infections, heart problems and hernias. Patients usually die within the first year of life, although some survive into their teenage years. Mucopolysaccharidosis type VII is a life-threatening disease with many patients dying in early childhood. It also debilitating due to the physical and skeletal abnormalities that occur. Sly syndrome is characterized by coarse facial features, hepatosplenomegaly, protruding sternum and dystosis multiplex. Dystosis multiplex refers to a constellation of skeletal abnormalities and is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella and abnormal spacing of the teeth with dentigerous cysts. There is anterior hypoplasia of the lumbar vertebrae, the long bone diaphyses are enlarged and an irregular appearance of the metaphyses. The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga. The clavicles are short, thick and irregular and the ribs are oar shaped. Phalanges are shortened and trapezoidal in shape. At the time of designation, mucopolysaccharidosis type VII affected approximately 0.001 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 50 people, and is below the ceiling for orphan designation, which is 5 people in 10,000. New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.


Recruitment information / eligibility

Status Withdrawn
Enrollment 0
Est. completion date February 28, 2021
Est. primary completion date February 28, 2021
Accepts healthy volunteers No
Gender All
Age group 2 Months and older
Eligibility INCLUSION CRITERIA: - Informed consent will be obtained from the parents before any study related procedures - Patients of both genders older than 2 months - The patient has a diagnosis of Sly disease or a high-grade suspicion for Sly disease - High-grade suspicion present, if one or more inclusion criteria are valid: Positive family anamnesis for Sly disease Developmental delay and/or progressive mental deterioration Skeletal abnormalities Hepatomegaly Splenomegaly EXCLUSION CRITERIA: - No Informed consent from the parents before any study related procedures. - Patients of both genders younger than 2 months - No diagnosis of Sly disease or no valid criteria for profound suspicion of Sly disease

Study Design


Locations

Country Name City State
Egypt Children's Hospital, Faculty of Medicine, Ain Shams University Cairo
Germany Centogene AG Rostock
India Amrita Institute of Medical Sciences & Research Centre Cochin Kerala
India Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Mumbai
Sri Lanka Lady Ridgeway Hospital for Children Colombo 8

Sponsors (1)

Lead Sponsor Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Egypt,  Germany,  India,  Sri Lanka, 

Outcome

Type Measure Description Time frame Safety issue
Primary Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma) 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. 24 months
Secondary Testing for clinical robustness, specificity and long-term stability of the biomarker 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. 36 months
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