NCT01536327

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Metachromatic Leu-kodystrophy disease from blood (plasma)

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
4 countries

5 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 21, 2012

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 22, 2012

Completed
6.5 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

February 21, 2012

Last Update Submit

February 9, 2023

Conditions

Peripheral NeuropathyMuscle Weakness

Keywords

leukodystrophiesMetachromatic Leukodystrophy Disease

Outcome Measures

Primary Outcomes (1)

  • Development of a new MS-based biomarker for the early and sensitive diagnosis of metachromatic leukodystrophy disease from the blood

    New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

    24 month

Secondary Outcomes (1)

  • Testing for clinical robustness, specificity and long-term stability of the biomarker

    36 months

Study Arms (1)

Observation

Patients with Metachromatic Leukodystrophy disease or profound suspicion for Metachromatic Leukodystrophy disease

Eligibility Criteria

Age1 Day+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Metachromatic Leukodystrophy disease or profound suspicion for Metachromatic Leukodystrophy disease

You may qualify if:

  • Informed consent will be obtained from the patient or the parents before any study related procedures
  • Patients from one day
  • The patient has a diagnosis of Metachromatic Leukodystrophy disease or profound suspicion for Metachromatic Leukodystro-phy disease
  • High-grade suspicion present, if one or more criteria are valid:
  • Positive family anamnesis for MLD
  • Neurologic symptoms of unknown origin: peripheral neuropathy, clumsiness, choreatiform movements, spastic quadriplegia, loss of ambulation, bulbar dysfunction/paresis, dysphagia, seizure disorders
  • Psychiatric symptoms of unknown origin: mental regression, emotional la-bility, disorganized thinking or hallucinations/delusions
  • Muscle symptoms of unknown origin: muscle weakness

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related procedures
  • No diagnosis of MLD or no valid criteria for high-grade suspicion of MLD

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (5)

Children's Hospital, Faculty of Medicine, Ain Shams University

Cairo, 55131, Egypt

Location

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of mass-spectometry, 10 ml EDTA blood sample and/or a dry blood spot filter card-blood sample will be taken from the patient. To prove the correct Metachromatic Leukodystrophy diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Metachromatic Leukodystrophy will be done as routine diagnostic. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Peripheral Nervous System DiseasesMuscle Weakness

Condition Hierarchy (Ancestors)

Neuromuscular DiseasesNervous System DiseasesMuscular DiseasesMusculoskeletal DiseasesNeuromuscular ManifestationsNeurologic ManifestationsPathologic ProcessesPathological Conditions, Signs and SymptomsSigns and Symptoms

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 21, 2012

First Posted

February 22, 2012

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Data Sharing

IPD Sharing
Will not share

Locations

EG(1)IN(2)DE(1)SR(1)