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Observing the natural history of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

A Natural History Study of Patients with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)

Observational Vigil Neuroscience, Inc. · NCT05020743

This study looks at how adult-onset leukoencephalopathy with axonal spheroids and pigmented glia progresses in people with specific genetic mutations to help improve future treatments.

Quick facts

Study typeObservational
Enrollment60 (estimated)
Ages18 Years and up
SexAll
SponsorVigil Neuroscience, Inc. Industry-sponsored
Locations12 sites (San Francisco, California and 11 other locations)
Trial IDNCT05020743 on ClinicalTrials.gov

What this trial studies

This observational study focuses on adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare and rapidly progressing neurodegenerative disease. It aims to collect comprehensive data on the natural history of ALSP, including genetic, structural, and neuropathophysiological aspects, to inform the development of future therapies. Participants will be individuals with confirmed CSF1R gene mutations and specific clinical and MRI findings indicative of ALSP. The study does not involve any interventions but seeks to enhance understanding of the disease's progression.

Who should consider this trial

Good fit: Ideal candidates for this study are adults with documented CSF1R gene mutations and clinical evidence of ALSP progression.

Not a fit: Patients with other causes of leukoencephalopathy, such as vascular dementia or multiple sclerosis, will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to the development of novel therapies that may reverse, delay, or stop the progression of ALSP.

How similar studies have performed: While this study focuses on a rare condition, similar observational studies in neurodegenerative diseases have shown success in informing treatment approaches.

Eligibility criteria

Show full inclusion / exclusion criteria 
Key Inclusion Criteria for Definitive ALSP patients:

1. Subjects who have documentation of a gene mutation in the CSF1R gene (prior to enrollment)
2. Subjects who fulfill both of the following criteria (a and b):

   a. More than two findings of clinical signs or symptoms in the following categories: i. Cognitive impairment or psychiatric problem ii. Pyramidal signs on neurological examination iii. Extrapyramidal signs, such as rigidity, tremor, abnormal gait, or bradykinesia iv. Epilepsy

   b. MRI findings consistent with ALSP: specifically, bilateral cerebral white matter lesions with or without thinning of the corpus callosum NOTE: Subjects with other causes of leukoencephalopathy, including vascular dementia, multiple sclerosis, or leukodystrophy (e.g., adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy), will be excluded.
3. Subjects who, in the investigator's opinion, have demonstrated clinical progression of their ALSP within the past year.
4. Subjects who meet the criteria for definitive ALSP must have a designated study partner (i.e caregiver) who spends at least 4 hours per week with them. The study partner must be able and willing to assist the subject in complying with the study requirements, be able to provide information during study visits, and be willing to sign a study partner ICF. Subjects who do not have a study partner may be enrolled at the investigator's discretion if they are able to comply with protocol requirements.

Key Exclusion Criteria for Definitive ALSP patients:

1. Subjects with any neurological or psychiatric diseases that can produce cognitive, motor, or behavioral impairment similar to ALSP, including, but not limited to, Alzheimer's disease, frontotemporal dementia, ALS, stroke, Huntington disease, multiple sclerosis, Parkinson's disease, and Down syndrome, or with active alcohol/drug abuse
2. Subjects who are unable to undergo MRI
3. Subjects with any condition or situation that, in the opinion of the investigator or sponsor medical personnel, may place the subject at significant risk, confound the study results, or interfere significantly with the subject's participation in the study.
4. Subjects who have previously undergone HSCT or plan to undergo HSCT within 12 months of the Screening/Baseline visit.

Where this trial is running

San Francisco, California and 11 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions ALSPCSF1RleukoencephalopathyHereditary Diffuse Leukoencephalopathy with SpheroidsHDLSCSF1R-related LeukoencephalopathyAdult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented GliaCSF1R gene mutation
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.