A Study to Assess CSF1R-related Leukoencephalopathy After Stem Cell Transplantation

Mayo Clinic

Status: Invitation-only

Conditions: CSF1R-related Leukoencephalopathy; Hematopoietic Stem Cell Transplantation; POLD; ALSP

Study type: Observational

Funder types: Other

Identifiers

NCT04503213

20-006124

Details and patient eligibility

About

The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.

Full description

The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.

Enrollment: 20 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• ≥ 18 years of age.
• Genetic confirmation of a mutation in the CSF1R gene.
• Diagnosis of CSF1R-related leukoencephalopathy.
• Anticipated to undergo haematopoietic stem cell transplantation (HSCT).

Exclusion criteria

• Concurrent diagnoses that may confound neuropsychological testing; e.g., major hearing/visual impairment.
• Concurrent diagnoses that may confound ambulatory measurements; e.g., amputee.
• Inability to undergo magnetic resonance imaging (MRI); e.g., MR-incompatible implant.