Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
NCT04925349 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100
Last updated 2025-09-24
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.
Conditions
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Metachromatic Leukodystrophy
- Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
Interventions
- DIAGNOSTIC_TEST
-
Blood sample collection
blood sample collection
Sponsors & Collaborators
-
URC-CIC Paris Descartes Necker Cochin
collaborator OTHER -
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Fanny MOCHEL, MCU-PH · Institut du Cerveau et de la Moëlle épinière
-
Violetta ZUJOVIC, PhD, CR1 · Institut du Cerveau et de la Moëlle épinière
-
Caroline SEVIN, PhD · Kremlin Bicêtre Hôpital
Eligibility
- Min Age
- 15 Months
- Max Age
- 60 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2021-08-30
- Primary Completion
- 2026-08-31
- Completion
- 2027-02-28
Countries
- France
Study Locations
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