Biomarker for Metachromatic Leukodystrophy (BioMeta) Disease
Stopped: Transitioned to BioMetabol
Egypt, Germany, India0Started 2018-08-20
Plain-language summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Metachromatic Leu-kodystrophy disease from blood (plasma)
Who can participate
Age range1 Day
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
INCLUSION CRITERIA:
* 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
EXCLUSION CRITERIA:
* 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
What they're measuring
1
Development of a new MS-based biomarker for the early and sensitive diagnosis of metachromatic leukodystrophy disease from the blood