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

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Jun 7, 2021

Keywords

ClinConnect Summary

This clinical trial is studying how the immune system, particularly a type of white blood cell called macrophages, might affect the progression of certain genetic brain disorders. These include X-linked Adrenoleukodystrophy (X-ALD), Metachromatic Leukodystrophy (MLD), and Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP). By examining blood samples from participants, researchers hope to understand how specific genetic mutations linked to these conditions may lead to unique immune responses that could influence disease development.

To participate in this study, individuals must meet certain criteria. Eligible participants include boys and girls aged 15 months to 18 years with MLD or cerebral ALD, as well as adults aged 18 to 60 with MLD, Adrenomyeloneuropathy (AMN), or ALSP. Each participant will only need to provide one blood sample during a routine medical visit, making it a low-risk study. This research is important as it could help improve our understanding of these conditions and potentially lead to better treatments in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Boys or girls aged between 15 months and 18 years (inclusive) diagnosed with MLD (low ARSA activity and accumulation of sulfatides in urine)
• • Boys aged between 3 and 18 years (inclusive) diagnosed with C-CALD (elevated levels of VLCFA and leukodystrophy at brain MRI)
• • 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)
• • Adult males aged between 18 and 60 diagnosed with AMN (elevated VLCFA and clinical symptoms of AMN without leukodystrophy at brain MRI)
• • Adult male aged between 18 and 60 diagnosed with CALD (elevated VLCFA with leukodystrophy at brain MRI)
• • Adult male or female between 18 and 60 diagnosed with ALSP (CSF1R mutation and leukodystrophy at brain MRI)
• • Children (15 months-18 years) without neurologic disease (no obvious neurological symptoms, normal neurologic examination)
• * Informed consent obtained :
• • from the parents or guardian for children patients and children controls ;
• • from subject himself for adult patients.
• 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