Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT03872713 |
| Other study ID # |
IPSM 09-2018 |
| Secondary ID |
|
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
October 26, 2018 |
| Est. completion date |
December 1, 2019 |
Study information
| Verified date |
April 2020 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
Establishment of human cellular disease models for Morquio disease for an individualized
therapy development having the capacity to address both hepatic and neurologic forms of the
disease
Description:
The mucopolysaccharidoses are a group of inherited lysosomal storage disorders. Lysosomes
function as the primary digestive units within cells. Enzymes within lysosomes break down or
digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS
disorders, deficiency or malfunction of specific lysosomal enzymes lead to an abnormal
accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in
the arteries, skeleton, eyes, joints, ears, skin and/or teeth. These accumulations may also
be found in the respiratory system, liver, spleen, central nervous system, blood, and bone
marrow. This accumulation eventually causes progressive damage to cells, tissues, and various
organ systems of the body. There are several different types and subtypes of
mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal
recessive traits and all vary in their clinical phenotype. Within our clinical trial we focus
on MPS type IV.
Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage
disease that exists in two forms (Morquio syndromes A and B) and occurs because of a
deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase,
respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides
in the body, abnormal skeletal development, and additional symptoms. In most cases,
individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B
are less severe than those associated with MPS IV-A. Symptoms may include growth retardation,
a prominent lower face, an abnormally short neck, knees that are abnormally close together
(knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side
curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long
bones (epiphyses) resulting in dwarfism, and/or a prominent breast bone (pectus carinatum) as
well as bell shaped chest. Though the CNS and peripheral nerves are primarily not affected
the bone defects may result in neurological symptoms such as spinal cord compression. Hearing
loss, weakness of the legs, and/or additional abnormalities may also occur.
The goal of the study is to prepare a cell culture from patients affected with Morquio
disease in order to identify novel pathways and proteins involved in disease progression that
allow for an earlier diagnosis (i.e. before symptom onset) and that are suitable targets for
an individualized therapeutic approach able to address not only the hepatic form, but also
the neurologic form of the disease, which is less responsive to the current therapeutic
approaches.
