Biomarker for Mucolipidosis Disorder Type I, II, III or IV (BioML)
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|ClinicalTrials.gov Identifier: NCT02298673|
Recruitment Status : Recruiting
First Posted : November 24, 2014
Last Update Posted : February 6, 2018
|Condition or disease|
|Mucolipidosis Type I Mucolipidosis Type II Mucolipidosis Type III Mucolipidosis Type IV Mucolipidosis|
Mucolipidoses (ML) are a group of inherited metabolic diseases in which both glycosaminoglycans (GAGs) and another group of substances called sphingolipids build up in the body. GAGs are long, repeating chains of complex sugar molecules, and sphingolipids are fats. ML disorders may also be referred to as "targeting defects" because affected individuals are lacking the enzyme (a protein that produces chemical reactions in the body) that "targets" other enzymes to the lysosome (a sac-like structure found in a cell). Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease. Changes in specific genes results in the deficiency or absence of the targeting enzyme. The ML disorders are categorized into four groups based on the clinical features and enzyme deficiencies. ML-II and ML-III are the more common forms of ML. An individual is usually suspected of having an ML disorder based on clinical features. The diagnosis is further confirmed by laboratory testing. The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. At the same time, each child also faces a one in two chance of inheriting only one copy of the defective gene. People who have only one defective gene are known as carriers. These individuals do not develop the disease but they can pass the defective gene on to their own children. Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the Disorder earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment. Examining saliva samples will allow determining whether measurement is feasible in saliva samples and will further promote early detection of mucolipidosis disorder type I, II, III or IV.
|Study Type :||Observational|
|Estimated Enrollment :||50 participants|
|Official Title:||Biomarker for Mucolipidosis Disorder Type I, II, III or IV - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL|
|Study Start Date :||November 2014|
|Estimated Primary Completion Date :||November 2019|
|Estimated Study Completion Date :||December 2019|
Patients with a diagnosis of mucolipidosis disorder type I, II, III or IV based upon biochemical and/or genetic criteria or profound suspicion for mucolipidosis disorder type I, II, III or IV
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis disorder type I, II, III or IV from plasma and saliva [ Time Frame: 36 months ]
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02298673
|Contact: Arndt Rolfs, Prof.||+49 381 494 ext firstname.lastname@example.org|
|Contact: Susanne Zielke||+49 381 494 ext email@example.com|
|Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock||Recruiting|
|Rostock, Germany, 18147|
|Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 firstname.lastname@example.org|
|Sub-Investigator: Anne Katrin Giese, MD|
|Principal Investigator:||Arndt Rolfs, Prof.||University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration|