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Trial record 2 of 10 for:    Mucolipidoses

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
Sponsor:
Collaborator:
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis Disorder type I, II, III, IV disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Condition or disease
Mucolipidosis Type I Mucolipidosis Type II Mucolipidosis Type III Mucolipidosis Type IV Mucolipidosis

Detailed Description:

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
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort
Observation
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



Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry 10ml EDTA blood, sputum tube and a dry blood spot filter card are taken. To proof the correct diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)


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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with mucolipidosis disorder type I, II, III or IV or patients with high-grade suspicion for mucolipidosis disorder type I, II, III or IV should be included into the study.
Criteria

Inclusion Criteria:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both older than 2 month
  • The patient has a diagnosis of mucolipidosis disorder type I, II, III or IV or high-grade suspicion for mucolipidosis disorder type I, II, III or IV
  • High-grade suspicion present, if one or more criteria are valid:
  • positive family anamnesis for Mucolipidosis Disorder type I,II,III or IV
  • skeletal abnormalities
  • psychomotor retardation
  • Progressive failure to thrive
  • Hoarse voice

Exclusion Criteria:

  • No Informed consent from the parents before any study related procedures
  • Patients of both younger than 2 month
  • No diagnosis of mucolipidosis disorder type I, II, III or IV or no valid criteria for high-grade suspicion of mucolipidosis disorder type I, II, III or IV

Information from the National Library of Medicine

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


Contacts
Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke +49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de

Locations
Germany
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    arndt.rolfs@med.uni-rostock.de   
Sub-Investigator: Anne Katrin Giese, MD         
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Investigators
Principal Investigator: Arndt Rolfs, Prof. University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT02298673     History of Changes
Other Study ID Numbers: BML 04-2014
First Posted: November 24, 2014    Key Record Dates
Last Update Posted: February 6, 2018
Last Verified: February 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Lipid Metabolism, Inborn Errors
Hereditary Disease
Inborn Genetic Diseases

Additional relevant MeSH terms:
Mucolipidoses
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases