Examining Immune Response in Certain Leukodystrophies
MATRIX - "Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia"
This study is trying to see how the immune system reacts in people with certain types of leukodystrophies to better understand how these diseases progress.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 15 Months to 60 Years |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 2 sites (Le Kremlin-Bicêtre and 1 other locations) |
| Trial ID | NCT04925349 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate the role of innate immunity in the progression of X-linked Adrenoleukodystrophy (X-ALD), Metachromatic Leukodystrophy (MLD), and Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP). It will enroll 49 subjects who will provide blood samples during medical follow-up visits. The study focuses on understanding how mutations associated with these leukodystrophies may lead to specific immune responses that contribute to disease pathogenesis. By analyzing these immune responses, researchers hope to gain insights into the underlying mechanisms of these conditions.
Who should consider this trial
Good fit: Ideal candidates include children and adults diagnosed with X-ALD, MLD, or ALSP, as well as healthy children for comparison.
Not a fit: Patients with other neurological disorders not related to leukodystrophies may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential new therapeutic strategies for patients with these leukodystrophies.
How similar studies have performed: While the specific immune mechanisms in these leukodystrophies are being explored, similar studies have shown promise in understanding immune responses in other neurodegenerative diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Le Kremlin-Bicêtre and 1 other locations
- AP-HP Hôpital Bicêtre — Le Kremlin-Bicêtre, France (Recruiting)
- AP-HP Hôpital La Pitié Salpêtrière — Paris, France (Recruiting)
Study contacts
- Principal investigator: Fanny MOCHEL, MCU-PH — Institut du Cerveau et de la Moëlle épinière
- Study coordinator: Fanny MOCHEL
- Email: fanny.mochel@icm-institut.org
- Phone: 01 57 27 44 82
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.