Examining Immune Response in Certain Leukodystrophies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.