Biomarker for Metachromatic Leukodystrophy Disease

Official Title: “Biomarker for Metachromatic Leukodystrophy Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL”

Development of a new MS-based biomarker for the early and sensitive diagnosis of metachromatic leukodystrophy disease from plasma, Testing for clinical robustness, specificity and long-term stability of the biomarker

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leuko-dystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of varying lipds (75%) and prote-ins (25%). The leukodystrophies are caused by genetic defects in myelin production or me-tabolization of the compounds of the myelin sheath. Each of the leukodystrophies is the re-sult of a defect in the gene that controls one (and only one) of the enzymes responible for creating or degrading a part of the myelin. MLD is caused by a deficiency of the enzyme aryl-sulfatase A. MLD is one of several lipid storage diseases, which results in the toxic build-up of fatty materials (lipids) in cells in the nervous system, liver, and kidneys.

There are three forms of MLD: late infantile, juvenile, and adult. Onset of the late infantile form (the most common MLD) is typically between 12 and 20 months following birth.

Affected children have difficulty walking after the first year of life. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to blindness, con-vulsions, impaired swallowing, paralysis, and dementia.

Children may become comatose. Most children with this form of MLD die by age 5. The juvenile form of MLD (between 3-10 years of age) usually begins with impaired school performance, mental deterioration, and dementia and then develop symptoms similar to the infantile form but with slower progressi-on. The adult form commonly begins after age 16 as a psychiatric disorder or progressive dementia. Symptoms include impaired concentration, ataxia, seizures, dementia, and tremor.

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients 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 other patients by an early diagnose and thereby with an earlier treatment.

Arms, Groups and Cohorts in this Clinical Trial

• : Observation
  • patient with a diagnosis of Metachromatic Leukodystrophy disease or profound suspicion for Metachromatic Leukodystrophy disease

Inclusion Criteria:

• Informed consent will be obtained from the patient or the parents before any study re-lated procedures.
• Patients from one day
• The patient has a diagnosis of Metachro-matic Leukodystrophy disease or profound suspicion for Metachromatic Leukodystro-phy disease

Exclusion Criteria:

• No Informed consent from the patient or the parents before any study related procedures.

Gender Eligibility for this Clinical Trial: Both

Minimum Age for this Clinical Trial: N/A

Maximum Age for this Clinical Trial: N/A

Are Healthy Volunteers Accepted for this Clinical Trial?: No

Lead Investigator: University of Rostock Other

Overall Clinical Trial Officials and Contacts

Arndt Rolfs, Prof. Principal Investigator University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration  

Overall Contact: Arndt Rolfs, Prof. +49 381 494 arndt.rolfs@med.uni-rostock.de

Information obtained from ClinicalTrials.gov on May 15, 2012

Link to the current ClinicalTrials.gov record. http://clinicaltrials.gov/show/NCT01536327

Study ID Number: BMLE11/2011

ClinicalTrials.gov Identifier: NCT01536327

Health Authority: Germany: Ethics Commission