RecruitingNCT04925349

Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

MATRIX - "Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia"

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

100 participants

Start Date

Aug 30, 2021

Study Type

OBSERVATIONAL

Conditions

Adrenoleukodystrophy Adrenomyeloneuropathy Metachromatic Leukodystrophy

Summary

This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile/adult metachromatic leukodystrophy (MLD) and adults with leukoencephalopathy and axonal spheroids and pigmented glia (ALSP). 49 subjects will be enrolled with one blood sample collection during one of their medical follow-up visit. This trial will evaluate the role of innate immunity to influence disease progression in X-ALD, MLD and ALSP, and if the mutations related to these leukodystrophies result in a specific immune response leading to the pathogenesis.

Eligibility

Min Age: 15 MonthsMax Age: 60 Years

Inclusion Criteria13

Boys aged between 3 and 18 years (inclusive) diagnosed with C-CALD (elevated levels of VLCFA and leukodystrophy at brain MRI)
Boys or girls aged between 15 months and 18 years (inclusive) diagnosed with MLD (low ARSA activity and accumulation of sulfatides in urine)
Presymptomatic boys carrying ABCD1 mutations aged between 3 and 18 years (inclusive) (PRE-ALD)
Adult males or females aged between 18 and 60 diagnosed with MLD (low ARSA activity and accumulation of sulfatides in urine)
Males aged between 18 and 60 years diagnosed with AMN (elevated VLCFA and clinical symptoms of AMN without leukodystrophy at brain MRI)
Males aged between 18 and 60 years diagnosed with CALD (elevated VLCFA with leukodystrophy at brain MRI)
Adult males or females aged between 18 and 60 years diagnosed with ALSP (CSF1R mutation and leukodystrophy at brain MRI)
Presymptomatic patient adults (males or females) carrying CSF1R mutations (PRE-ALSP)
Children (15 months-18 years) without neurologic disease (no obvious neurological symptoms, normal neurologic examination)
Adults aged between 18 and 60 years without neurologic disease (no overt neurological symptoms)
Informed consent obtained :
from the parents or guardian for children patients and children controls;
from subject himself for adult patients and adult controls.

Exclusion Criteria5

Participation to a therapeutic clinical trial
Treatment likely to modify the immune system
Unable to have a blood collection (i.e. low hemoglobin level at the investigator's judgment)
Any other reason, to the discretion of the investigator
Children or adults without health insurance or social security

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