Biomarker for Krabbe Disease (BioKrabbe)
Lysosomal Storage Diseases
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL|
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe disease from plasma and saliva [ Time Frame: 24 month ]
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||August 2011|
|Estimated Study Completion Date:||November 2018|
|Estimated Primary Completion Date:||October 2018 (Final data collection date for primary outcome measure)|
Patients with Krabbe Disease of both gender at 1 Years of age
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01425489
|Contact: Arndt Rolfs, MD||+49 381 494 ext firstname.lastname@example.org|
|Contact: Sabine Roesner||+49 381 494 ext email@example.com|
|Clinics Hospital of Ribeiro Preto - University of Sao Paulo||Recruiting|
|Sao Paulo, Brazil, 14048-900|
|Contact: Charles Marques Lourenco, MD firstname.lastname@example.org|
|Principal Investigator: Charles Marques Lourenco, MD|
|University of Rostock, Albrecht Kossel Institute||Recruiting|
|Rostock, Germany, 18147|
|Contact: Arndt Rolfs, MD 49 381 494 ext 9540 email@example.com|
|Principal Investigator: Arndt Rolfs, MD|
|NIRMA, University of Mumbai||Recruiting|
|Mumbai, India, 400705|
|Contact: Anil Jalan, MD firstname.lastname@example.org|
|Principal Investigator: Anil Jalan, MD|
|Principal Investigator:||Arndt Rolfs, MD||University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration|