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

Launched by VIGIL NEUROSCIENCE, INC. · Aug 18, 2021

Keywords

ClinConnect Summary

This clinical trial is studying a rare and serious condition called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ALSP is a genetic disease that affects the brain and spinal cord, leading to difficulties with movement and mental health. Currently, there are no effective treatments available, and this study aims to gather valuable information about how the disease progresses. By collecting data from participants, researchers hope to develop new therapies that may help slow down or stop the progression of ALSP.

To be eligible for the study, participants must have a confirmed gene mutation related to ALSP and show specific symptoms, such as cognitive issues or motor difficulties, along with certain MRI findings. Participants should also have a caregiver who can help them throughout the study. Those with similar neurological conditions or who cannot undergo MRI scans will not be able to participate. If you join the study, you can expect to undergo evaluations and tests that will help researchers learn more about ALSP and its effects. Your involvement could contribute to future treatments for this challenging condition.

Gender

ALL

Eligibility 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.