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

No results posted yet for this 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.

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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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04925349 on ClinicalTrials.gov