Actively Recruiting

Age: 15Months - 60Years
All Genders
Healthy Volunteers
NCT04925349

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

Led by Assistance Publique - Hôpitaux de Paris · Updated on 2025-09-24

100

Participants Needed

2

Research Sites

283 weeks

Total Duration

On this page

Sponsors

A

Assistance Publique - Hôpitaux de Paris

Lead Sponsor

U

URC-CIC Paris Descartes Necker Cochin

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

Age: 15Months - 60Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Boys aged 3 to 18 years diagnosed with childhood cerebral ALD (C-CALD)
  • Boys or girls aged 15 months to 18 years diagnosed with metachromatic leukodystrophy (MLD)
  • Presymptomatic boys aged 3 to 18 years carrying ABCD1 mutations (PRE-ALD)
  • Adult males or females aged 18 to 60 diagnosed with MLD
  • Males aged 18 to 60 diagnosed with adrenomyeloneuropathy (AMN)
  • Males aged 18 to 60 diagnosed with cerebral ALD (CALD)
  • Adult males or females aged 18 to 60 diagnosed with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
  • Presymptomatic adult males or females carrying CSF1R mutations (PRE-ALSP)
  • Children aged 15 months to 18 years without neurological disease
  • Adults aged 18 to 60 without neurological disease
  • Informed consent obtained from parents or guardians for children and from adult participants themselves
Not Eligible

You will not qualify if you...

  • Participation in a therapeutic clinical trial
  • Treatment likely to modify the immune system
  • Unable to have blood collection as judged by investigator (e.g., low hemoglobin levels)
  • Any other reason at the discretion of the investigator
  • Children or adults without health insurance or social security

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

1
2
3
+1

Trial Site Locations

Total: 2 locations

1

AP-HP Hôpital Bicêtre

Le Kremlin-Bicêtre, France, 94275

Actively Recruiting

2

AP-HP Hôpital La Pitié Salpêtrière

Paris, France, 75013

Actively Recruiting

Loading map...

Research Team

F

Fanny MOCHEL

CONTACT

C

Christelle AUGER

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here

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