Clinical trial NCT01425489: Biomarker for Krabbe Disease (BioKrabbe)
Official title: Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Krabbe Disease
Keywords: Krabbe Disease
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2011-08-30
Enrollment: 0
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Krabbe Disease

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe disease from plasma
timeFrame: 24 month
Secondary outcomes:
measure: Testing for clinical robustness, specificity and long-term stability of the biomarker
timeFrame: 36 months
Other outcomes:
Locations:
city: Cairo
country: Egypt
facility: Children's Hospital, Faculty of Medicine, Ain Shams University
city: Rostock
country: Germany
facility: Centogene AG
city: Kerala
country: India
facility: Amrita Institute of Medical Sciences
city: Mumbai
country: India
facility: Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.
role: STUDY_CHAIR
References: