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
Study ID
NCT04925349
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
15 Months - 60 Years
Healthy Volunteers
Accepted

Interventions

  • Blood sample collection — DIAGNOSTIC_TEST
    blood sample collection

Study Details

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.

Key Dates

Start date
Aug 30, 2021
Status verified
Sep 2025
Primary completion
Aug 31, 2026
Completion
Feb 28, 2027

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: affected subjects
    * adult patients with adrenomyeloneuropathy/adrenoleukodystrophy * children with adrenoleukodystrophy * children with metachromatic leukodystrophy
  • Arm: control subjects
    * healthy children * heatthy adults

Primary Outcome Measure

Macrophages functionality - distribution of monocytes [ Time Frame: 2 years after blood collection ]

Central Contacts

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