Natural History Study in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

NCT05020743 | Terminated Results

• 1 other identifier: VGL101-01.002
• Study Type: observational
• Target: 56
• Locations: 6 countries
• Sites: 12

Brief Summary

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressing, genetic, neurodegenerative disease for which no definitive treatment options and limited information on the natural history of the disease are available. The structural, genetic, and neuropathophysiological abnormalities of ALSP lead to the onset of neurologic symptoms, such as moderate to severe motor and neuropsychiatric impairments. This natural history study will collect data to contribute to the development of future novel therapies that focus on the neuropathophysiological features that underlie ALSP and that are essential to reverse, delay, or stop progression of this debilitating disorder.

Conditions

ALSP

Keywords

ALSP; CSF1R; leukoencephalopathy; Hereditary Diffuse Leukoencephalopathy with Spheroids; HDLS; CSF1R-related Leukoencephalopathy; Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; CSF1R gene mutation; POLD; Pigmentary Orthochromatic Leukodystrophy

Outcome Measures

Primary Outcomes (5)

• Magnetic Resonance Imaging (MRI) Ventricle Volume

  Change from Baseline in ventricle volume at Month 6

  Month 6

• Magnetic Resonance Imaging (MRI) Ventricle Volume

  Change from Baseline in ventricle volume at Month 12

  Month 12

• Magnetic Resonance Imaging (MRI) Ventricle Volume

  Change from Baseline in ventricle volume at Month 18

  Month 18

• Magnetic Resonance Imaging (MRI) Ventricle Volume

  Change from Baseline in ventricle volume at Month 24

  Month 24

• Magnetic Resonance Imaging (MRI) Ventricle Volume

  Change from Baseline in ventricle volume at Month 30

  Month 30

Study Arms (2)

Patients with ALSP

Other: No intervention

Patients with Prodromal ALSP

Other: No intervention

Interventions

No intervention OTHER

Not applicable for a Natural History Study

Patients with ALSP; Patients with Prodromal ALSP

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Definitive ALSP and Prodromal ALSP.

You may qualify if:

• Subjects who have documentation of a gene mutation in the CSF1R gene (prior to enrollment)
• 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.
• Subjects who, in the investigator's opinion, have demonstrated clinical progression of their ALSP within the past year.
• 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.

You may not qualify if:

• 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
• Subjects who are unable to undergo MRI
• 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.
• Subjects who have previously undergone HSCT or plan to undergo HSCT within 12 months of the Screening/Baseline visit.

Sponsors & Collaborators

• Vigil Neuroscience, Inc.: lead

Study Sites (12)

Investigative Site 4

San Francisco, California, 94158, United States

Location

Investigative Site 5

Englewood, Colorado, 80113, United States

Location

Investigative Site 1

Boca Raton, Florida, 33486, United States

Location

Investigative Site 2

Jacksonville, Florida, 32224, United States

Location

Investigative Site 11

Boston, Massachusetts, 02114, United States

Location

Investigative Site 10

Philadelphia, Pennsylvania, 19104, United States

Location

Investigative Site 12

São Paulo, 04038, Brazil

Location

Investigative Site 3

London, Ontario, N6C 5J1, Canada

Location

Investigative Site 8

Leipzig, 04103, Germany

Location

Investigative Site 9

Tübingen, 72076, Germany

Location

Investigative Site 6

Amsterdam, 1105 AZ, Netherlands

Location

Investigative Site 7

London, WC1N 3BG, United Kingdom

Location

MeSH Terms

Conditions

Leukoencephalopathies; Hereditary Diffuse Leukoencephalopathy with Spheroids

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Results Point of Contact

• Title: VP, Clinical & Medical Sciences
• Organization: Vigil Neuro

jchavez@vigilneuro.com

+18572280538

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 18, 2021
• First Posted: August 25, 2021
• Study Start: September 13, 2021
• Primary Completion: May 30, 2025
• Study Completion: May 30, 2025
• Last Updated: August 13, 2025
• Results First Posted: August 13, 2025

Record last verified: 2025-07

Locations

NL (1); BR (1); DE (2); CA (1); GB (1); US (6)