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Clinical Trial Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe Disease from blood


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT01425489
Study type Observational
Source CENTOGENE GmbH Rostock
Contact
Status Withdrawn
Phase
Start date August 20, 2018
Completion date February 28, 2021

See also
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Active, not recruiting NCT04693598 - Gene Transfer Clinical Trial for Krabbe Disease Phase 1/Phase 2
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Not yet recruiting NCT06308718 - Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe Patients
Active, not recruiting NCT02699190 - LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
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Recruiting NCT03333200 - Longitudinal Study of Neurodegenerative Disorders
Recruiting NCT05739643 - Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT Phase 1/Phase 2
Recruiting NCT03047369 - The Myelin Disorders Biorepository Project
Completed NCT01043640 - Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Phase 2
Active, not recruiting NCT00787865 - Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease