Clinical Trials

Inclusion Criteria:

• Male or female subjects aged ≥ 18 years on the day the informed consent form (ICF) is signed.
• Subjects who are able, in the opinion of the investigator, to understand the nature of the study and to comply with the protocol requirements, including scheduled visits, blood and CSF sampling, and other study procedures, or who have a caregiver or legal guardian who can understand and assist the subject in complying with the protocol requirements.
• Subjects who are willing and able to refrain from use of any prohibited medication/treatments that are not permitted by the protocol throughout the study period.
• Subjects who receive approval of sponsor medical personnel as to final suitability for the study.

Inclusion Criteria - Subjects With Symptomatic ALSP:

• 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).  One or more findings of clinical signs or symptoms in the following categories:
  • Cognitive impairment or psychiatric problem;
  • Pyramidal signs on neurological examination;
  • Extrapyramidal signs, such as rigidity, tremor, abnormal gait, or bradykinesia;
  • Epilepsy.
• Findings consistent with ALSP (Konno et al, 2018; 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. Subjects who are in stable medical condition in the opinion of the investigator.
• Subjects who have a score of ≥ 20 on the Mini-Mental State Examination (MMSE).
  • NOTE: Subjects with an MMSE score of 15 to 19 may qualify with sponsor approval.
• Subjects who are ambulatory with or without aids (cane, crutches, etc.) or, if restricted to a wheelchair, are still able to wheel self, transfer in and out of wheelchair, and walk up to 5 meters with or without aid.
  • NOTE: Up to 7 non-ambulatory subjects may be enrolled.
• 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.

Inclusion Criteria – Subjects With Asymptomatic ALSP:

• Subjects who have documentation of a gene mutation in CSF1R gene (prior to enrollment).

Informed Consent

• Subjects who are capable of providing written informed consent, including signing and dating the ICF, or who have a caregiver/legal guardian who can provide written informed consent (with subject assent).

Screening Assessments.

• Woman of childbearing potential must have a negative urine pregnancy test at Screening/Baseline.

Exclusion Criteria:

• 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 with any concurrent diagnosis that may confound neuropsychological testing (e.g., hearing impairment, visual impairment).
• Subjects with any concurrent diagnosis that may confound ambulation measurements (e.g., amputee).
• Subjects with bleeding disorders that would expose the subject to risk of injury or unsuccessful lumbar puncture.
• Subjects who are unable to undergo MRI.
• Female subjects who are pregnant, planning pregnancy in the next 12 months, or breastfeeding.
• Subjects who are at significant risk of suicidal or violent behavior, in the opinion of the investigator. If a subject answers “yes” to the Question 4 or 5 on the C-SSRS, a risk assessment should be done by a qualified healthcare professional to assess whether it is safe for the subject to participate in the study.
• Subjects with a current history of major medical illness, such as renal failure, congestive heart failure, or advanced pulmonary disease, that could put the subject at additional risk if participating in the study.
• Subjects with a history of cancer that required active treatment in the last 5 years, with the exception of in situ cervical cancer and basal cell carcinoma of the skin.
• 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 are concurrently enrolled in an investigational drug or device study or who received an investigational product within 30 days of 5 half-lives before signing the ICF.
• Subjects who are involved, directly or indirectly, in the conduct or administration of this study as an investigator, sub-investigator, study coordinator, or other study staff member.