NCT04925349 Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
| NCT ID | NCT04925349 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Assistance Publique - Hôpitaux de Paris |
| Condition | Adrenoleukodystrophy |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2021-08-30 |
| Primary Completion | 2026-08 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2021-08-30 with a primary completion date of 2026-08.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility 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
Contact & Investigator
Fanny MOCHEL, MCU-PH
PRINCIPAL INVESTIGATOR
Institut du Cerveau et de la Moëlle épinière
Frequently Asked Questions
Who can join the NCT04925349 clinical trial?
This trial is open to participants of all sexes, aged 15 Months or older, up to 60 Years, studying Adrenoleukodystrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04925349 currently recruiting?
Yes, NCT04925349 is actively recruiting participants. Contact the research team at fanny.mochel@icm-institut.org for enrollment information.
Where is the NCT04925349 trial being conducted?
This trial is being conducted at Le Kremlin-Bicêtre, France, Paris, France.
Who is sponsoring the NCT04925349 clinical trial?
NCT04925349 is sponsored by Assistance Publique - Hôpitaux de Paris. The principal investigator is Fanny MOCHEL, MCU-PH at Institut du Cerveau et de la Moëlle épinière. The trial plans to enroll 100 participants.