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


About this study

The purpose of this study is to collect data to contribute to the development of future novel therapies, including VGL101, that focus on the neuropathophysiological features that underlie adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and that are essential to reverse, delay, or stop progression of this debilitating disorder.

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. 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Key Inclusion Criteria for both ALSP patients and asymptomatic carriers:

1. Subjects who have documentation of a gene mutation in the CSF1R gene

Key Inclusion Criteria for ALSP patients, only:

1. Subjects who fulfill both of the following criteria (a and b):

a. One or more 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. Findings consistent with ALSP on MRI. NOTE: Subjects with
other causes of leukoencephalopathy, including vascular dementia, multiple sclerosis,
or leukodystrophy (e.g., adrenoleukodystrophy, Krabbe disease, metachromatic
leukodystrophy), will be excluded.

2. Subjects who, in the investigator's opinion, have demonstrated clinical progression of
their ALSP within the past year.

3. Subjects who have a cognitive or motor impairment that can affect their ability to
comply with study requirements must have a designated caregiver who spends at least 4
hours per week with them. The caregiver 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 caregiver ICF.

Key Exclusion Criteria (for all study participants):

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

4. Subjects who have previously undergone HSCT within 12 months prior to

Note: Other protocol defined Inclusion/Exclusion criteria may apply.

Eligibility last updated 7/27/22. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

Zbigniew Wszolek, M.D.

Open for enrollment

Contact information:

Audrey Strongosky C.C.R.C.

More information


Publications are currently not available

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