Clinical Trial Details
— Status: Withdrawn
Administrative data
NCT number |
NCT01425489 |
Other study ID # |
BK 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Withdrawn |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 Krabbe
Disease from blood
Description:
Krabbe disease is a rare, hereditary degenerative disorder of the central and peripheral
nervous systems. It is characterized by the presence of globoid cells (cells that have more
than one nucleus), the breakdown of the nerve's protective myelin coating, and destruction of
brain cells. Krabbe disease is one of a group of genetic disorders called the
leukodystrophies. These disorders impair the growth or development of the myelin sheath, the
fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration
of mental and motor skills. Myelin is a complex substance made up of at least 10 different
enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe
disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin
metabolism. The disease most often affects infants, with on-set before age 6 months, but can
occur in adolescence or adulthood.
Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding
difficulties, vomiting, and slowing of mental and motor development. Other symptoms include
muscle weakness, spasticity, deafness, and blindness.
Overall calculated European frequency is 1 case per 100,000 populations, with a higher
reported incidence in Sweden of 1.9 cases per 100,000 populations. An unusually high
incidence, 6 cases per 1000 live births, is reported in the Druze community in Israel.
New methods, like mass-spectrometry give a good chance to characterize in the blood (plasma)
of affected patents specific metabolic alterations that allow to diagnose in the future the
disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the
study to develop new biochemical markers from the plasma of the affected patients helping to
benefit the patient by an early diagnose and thereby with an earlier treatment.