Biomarker for Krabbe Disease (BioKrabbe)

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by University of Rostock
Sponsor:
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock
ClinicalTrials.gov Identifier:
NCT01425489
First received: August 29, 2011
Last updated: June 3, 2014
Last verified: June 2014
  Purpose

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


Condition
Lysosomal Storage Diseases
Krabbe Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Resource links provided by NLM:


Further study details as provided by University of Rostock:

Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectometry 7,5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct Krabbe diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Krabbe will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)


Estimated Enrollment: 250
Study Start Date: August 2011
Estimated Study Completion Date: November 2014
Estimated Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
Observation
Patients with Krabbe Disease of both gender at 1 Years of age

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 se-vere 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 galactocere-brosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset 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

Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with Krabbe Disease

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01425489

Contacts
Contact: Arndt Rolfs, MD +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Sabine Roesner +49 381 494 ext 4797 sabine.roesner@med.uni-rostock.de

Locations
Brazil
Clinics Hospital of Ribeiro Preto - University of Sao Paulo Recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD       charlesgenetica@gmail.com   
Principal Investigator: Charles Marques Lourenco, MD         
Germany
University of Rostock, Albrecht Kossel Institute Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, MD    49 381 494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Principal Investigator: Arndt Rolfs, MD         
India
NIRMA, University of Mumbai Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD       jalananil@yahoo.com   
Principal Investigator: Anil Jalan, MD         
Sponsors and Collaborators
University of Rostock
Investigators
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
  More Information

No publications provided

Responsible Party: Prof. Dr. Arndt Rolfs, University of Rostock
ClinicalTrials.gov Identifier: NCT01425489     History of Changes
Other Study ID Numbers: BK07/2011
Study First Received: August 29, 2011
Last Updated: June 3, 2014
Health Authority: Germany: Ethics Commission

Keywords provided by University of Rostock:
Brain Diseases, Metabolic, Inborn
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Leukodystrophy, Globoid Cell
Hereditary Central Nervous System Demyelinating Diseases
Central Nervous System Diseases
Nervous System Diseases
Sphingolipidoses
Leukoencephalopathies
Demyelinating Diseases
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism DisordersLeukodystrophy, Globoid Cell

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Leukodystrophy, Globoid Cell
Lysosomal Storage Diseases
Metabolic Diseases
Hereditary Central Nervous System Demyelinating Diseases
Central Nervous System Diseases
Nervous System Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Leukoencephalopathies
Demyelinating Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on July 20, 2014