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Clinical Trial Details — Status: Withdrawn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Status Withdrawn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.


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 1 Year and older
Eligibility INCLUSION CRITERIA: - Informed consent will be obtained from the patient or the parents before any study related procedures. - Patients of both gender from one year old - The patient has a diagnosis of Krabbe Disease EXCLUSION CRITERIA: - No Informed consent from the patient or the parents before any study related procedures. - Patients younger than one year - The patient has no diagnosis of Krabbe Disease

Study Design


Related Conditions & MeSH terms


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 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 Krabbe disease from 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 month
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
See also
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Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Active, not recruiting NCT04693598 - Gene Transfer Clinical Trial for Krabbe Disease Phase 1/Phase 2
Terminated NCT00668564 - Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Phase 2
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
Completed NCT01938014 - Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
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