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Recruiting Observational

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

NCT04925349 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2021-08-30
Last updated
2025-09-24

Condition(s) studied

AdrenoleukodystrophyAdrenomyeloneuropathyMetachromatic LeukodystrophyAdult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Investigational drug(s) / intervention(s)

Blood sample collection

Blood sample collection: blood sample collection

Study 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

Sex
ALL
Min age
15 Months
Max age
60 Years
Healthy volunteers
Accepted
Inclusion Criteria: 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 Criteria: * 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

Primary outcome measure(s)

  • Macrophages functionality - distribution of monocytes — 2 years after blood collection
    distribution of monocytes in the CD14-/+/++ and CD16-/+ classification using flow cytometry (% of CD14++/16-; CD14++/16+; CD14+/16+; CD14-/16-)
  • Macrophages functionality - myelin phagocytosis capacity — 2 years after blood collection
    percentage of myelin high, myelin low and myelin negative cells using flow cytometry
  • Macrophages functionality - HLA levels — 2 years after blood collection
    maximum fluorescence intensity for HLA markers using flow cytometry

Trial sites (2)

FacilityCityRegionStatus
AP-HP Hôpital Bicêtre Le Kremlin-Bicêtre France Recruiting
AP-HP Hôpital La Pitié Salpêtrière Paris France Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04925349 on ClinicalTrials.gov ↗ ← All trials in France