Clinical Trial: Biomarker for GM1/GM2 - Gangliosidoses

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Biomarker for GM1/GM2-Gangliosidoses - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

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

Detailed Summary:

Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular mole-cules. Gangliosides are mainly located in the nervous system.

If gangliosides accumulate pathologically throughout the body this is known as gangliosidoss. There are two main sub-types of gangliosidosis depending on the deficient enzyme, which are known as GM1 and GM2.

GM1-Gangliosidosis GM1 gangliosidosis is an autosomal recessive disease. Genetic counselling should be pro-vided to affected families.

The disorder is caused by mutations in the GLB1-gene coding for beta-galactosidase. To day, more than 165 mutations have been identified. Deficient enzyme activity leads to toxic accumulation of gangliosides in body tissues, and particularly in the central nervous system (CNS).

The disorder is panethnic however the worldwide prevalence is not known. Prevalence at birth is estimated to be approximately 1:100,000 to 200,000 live births. High prevalence has been found in Malta and Brazil, and in the Cypriot and Roma populations.

Deficiency of the lysosomal hydrolase, acid β-galactosidase, causes GM1.Three clinical sub-types of GM1 gangliosidosis are recognized, classified by age of onset, as follows:

• Infantile (type 1): In the most common infantile form, coarse facial features, hepato-splenomegaly, generalized skeletal dysplasia (dysostosis multiplex), macular cherry-red spots, and developmental delay/arrest (followed by progressive neurologic deteri-oration) usually occur within the first 6 months of life. Nonimmune
  Sponsor: University of Rostock
  

  Current Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of GM1/GM2 -gangliosidoses from plasma and saliva using [ Time Frame: 36 month ]
  
  

  Original Primary Outcome: Same as current
  
  

  Current Secondary Outcome: Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 month ]
  
  

  Original Secondary Outcome: Same as current
  
  Information By: University of Rostock
  

  Dates:
  Date Received: October 23, 2014
  Date Started: November 2014
  Date Completion: December 2017
  Last Updated: September 22, 2016
  Last Verified: September 2016