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

ConditionsAdrenoleukodystrophy Adrenomyeloneuropathy Metachromatic Leukodystrophy Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age15-60

SponsorAssistance Publique - Hôpitaux de Paris

About this trial

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 criteria

This trial accepts healthy volunteers

Qualifiers

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)

Disqualifiers

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

Trial population

Pediatric and adult populations. Both affected (C-CALD, AMN, A-CALD, MLD, ALSP), presymptomatic children carrying ABCD1 mutations (PRE-ALD), presymptomatic patient adults carrying CSF1R mutations (PRE-ALSP) and age-matched control subjects will be enrolled (N=10/group). Minor subjects (C-CALD, MLD, PRE-ALD and controls) will be included, based on childhood onset of C-CALD and MLD

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

Blood sample collection
Diagnostic test
blood sample collection

Treatment groups

100 Participants

are divided into 2 treatment groups

Group A: affected subjects1 intervention

Group B: control subjects1 intervention

Trial outcomes

Primary outcomes

Macrophages functionality - distribution of monocytes

distribution of monocytes in the CD14-/+/++ and CD16-/+ classification using flow cytometry (% of CD14++/16-; CD14++/16+; CD14+/16+; CD14-/16-)

Time frame