- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01425489
Biomarker for Krabbe Disease (BioKrabbe) (BIOKRABBE)
Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL
Study Overview
Status
Conditions
Detailed 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 Type
Contacts and Locations
Study Locations
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Cairo, Egypt, 55131
- Children's Hospital, Faculty of Medicine, Ain Shams University
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Rostock, Germany, 18055
- Centogene AG
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Kerala, India, 682041
- Amrita Institute of Medical Sciences
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Mumbai, India, 400705
- Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
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Colombo 8, Sri Lanka, 00800c
- Lady Ridgeway Hospital for Children
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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 Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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Observation
Patients with Krabbe Disease
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe disease from plasma
Time Frame: 24 month
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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.
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24 month
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Testing for clinical robustness, specificity and long-term stability of the biomarker
Time Frame: 36 months
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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.
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36 months
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Collaborators and Investigators
Sponsor
Publications and helpful links
Study record dates
Study Major Dates
Study Start (ACTUAL)
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Demyelinating Diseases
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Leukoencephalopathies
- Hereditary Central Nervous System Demyelinating Diseases
- Leukodystrophy, Globoid Cell
Other Study ID Numbers
- BK 06-2018
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Krabbe Disease
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State University of New York at BuffaloEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsRecruiting
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Passage Bio, Inc.SuspendedLeukodystrophy, Globoid CellUnited States, Brazil, Netherlands, United Kingdom, Canada, Israel
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Forge Biologics, IncRecruitingKrabbe DiseaseUnited States
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Forge Biologics, IncNot yet recruiting
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Forge Biologics, IncActive, not recruiting
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University of PittsburghNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruiting
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Talaris Therapeutics Inc.Duke UniversityTerminatedNiemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...United States
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Masonic Cancer Center, University of MinnesotaTerminatedSphingolipidoses | Niemann-Pick Disease, Type C | Krabbe Disease | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Alpha Mannosidosis | Hurler's Syndrome | Maroteaux-Lamy Syndrome | Wolman's Disease | Niemann-Pick Disease Type BUnited States
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University of PittsburghRecruitingLysosomal Storage Diseases | Leukodystrophy | Niemann-Pick Diseases | Batten Disease | Gaucher Disease | Krabbe Disease | Alpha-Mannosidosis | Osteopetrosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | GM1 Gangliosidoses | MPS I | MPS II | Vanishing White Matter Disease | Multiple Sulfatase Deficiency... and other conditionsUnited States
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Masonic Cancer Center, University of MinnesotaCompletedMucopolysaccharidosis | Hurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Krabbe Disease | Adrenoleukodystrophy (ALD) | Hunter Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Alpha Mannosidosis | Metachromatic Leukodystrophy (MLD) | Maroteaux-Lamy SyndromeUnited States