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— Status: Withdrawn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Withdrawn |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.