ClinicalTrials.gov record NCT04925349

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
AgeSee eligibility The registry's age field and its own written criteria give different ages for this study. Check the full criteria below and ask the study team.
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational case-control study collects one blood sample from people with X-ALD, MLD, ALSP (including presymptomatic mutation carriers) and matched healthy controls. Researchers will analyze immune cells called macrophages to compare activation patterns, metabolic profiles and gene expression across groups. The study plans to enroll 49 subjects and samples are taken during a routine medical follow-up visit.

What it is studying. The study tests whether mutations linked to X-ALD, MLD and ALSP are associated with specific patterns of innate immune activity — especially macrophage activation, function, metabolism and gene expression — and how these patterns relate to disease biology.

What the researchers hope to learn. Scientifically, the study aims to: characterize macrophage activation and functionality (monocyte subset distribution, myelin phagocytosis capacity, HLA levels); perform broad metabolic profiling (>2000 metabolites) and transcriptomic profiling (>1200 genes); and assess whether immune/microglial-related changes associate with the listed leukodystrophy mutations and disease features.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Blood sample collection

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

X-linked Adrenoleukodystrophy (X-ALD), Metachromatic Leukodystrophy (MLD) and Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are among the most frequent inherited leukodystrophies. X-ALD and MLD can affect both children and adults, while it is thought that ALSP onset exclusively during adulthood. These three diseases are characterized by phenotypic variability and poor genotype-phenotype correlation. In childhood forms of MLD and childhood cerebral ALD (C-CALD) a devastating cerebral demyelination and neuronal degeneration lead to a rapid neurologic degradation and premature death. Patients with the adult form of X-ALD (adrenomyeloneuropathy (AMN), 60% of males) display a progressive spastic paraplegia without brain involvement. However, 20% of AMN patients will also develop cerebral ALD. Patients diagnosed with the juvenile/adult (JA-) MLD form are affected by a progressive decline of their cognitive function, followed later by that of the motor abilities. ALSP patients present a rapidly progressive neurodegenerative disorder that impairs behavioural, cognitive and motor functions. Several arguments support the contribution of the immune response and neuroinflammation in these three leukodystrophies. In X-ALD, activation of microglia (macrophages of the CNS) plays an essential role in the acute demyelination phase, where a severe inflammatory process occurs. In ALSP, the dysfunctional protein (CSF1R) is almost exclusively expressed in microglia. Even if MLD is not considered as a neuroinflammatory disease per se, microglia activation and increased inflammatory cytokines are observed in the brain of MLD patients and mice. Even if the most commonly accepted hypothesis is that neuroinflammation is caused by secondary activation of microglia following phagocytosis of myelin debris full of undegraded material, a primitive role of the inflammation due to macrophages (MAC) dysfunction has emerged in recent years. MATRIX proposes to explore how disease-related mutations affect key components of MAC activation responses and how it reflects on their functionality.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give informed consent and provide one blood sample during one of their routine medical follow-up visits. The blood will be used for tests of macrophage/immune cell function and for metabolic and transcriptomic analyses described in the study. No other study procedures are listed in the registry.

How the study is structured. A prospective, observational case-control study (non-randomized, open-label) in which affected people, presymptomatic mutation carriers and healthy control subjects give a single blood sample during a clinic visit. Laboratory comparisons across the groups will include cell-surface/functional immune tests and molecular profiling of cells from blood.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on metachromatic leukodystrophy

Clinical trials10 trials listed for metachromatic leukodystrophyEvery trial the registry lists for metachromatic leukodystrophy, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in metachromatic leukodystrophy researchLatest monthly update: September 2026. Includes: Transplant timing. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Aug 30, 2021
Primary completion
August 2026 (estimated)
Study completion
February 2027 (estimated)
Target enrollment
100 participants (estimated)
Last updated on registry
Sep 24, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
  • URC-CIC Paris Descartes Necker Cochin

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (2)

Terms used on this page · explanations by MedicalUpdates.ai

randomized
Participants are assigned to the study groups by chance, like a coin toss, rather than chosen by the doctor or the participant. This is done so the groups are comparable.
open-label
No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
MRI
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
Informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
clinical trial
A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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