Overview
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare brain disease that gradually destroys the white matter of the brain. White matter is the tissue that connects different parts of the brain and allows nerve cells to communicate with each other. ALSP was previously known by two separate names — hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) — but these are now recognized as the same condition. ALSP is caused by mutations in the CSF1R gene, which provides instructions for a protein important for the survival and function of certain brain cells called microglia. When this gene is not working properly, microglia cannot do their job, leading to progressive damage to the brain's white matter. Under the microscope, the damaged areas show characteristic swellings on nerve fibers (called axonal spheroids) and brain cells filled with pigment (pigmented glia). Symptoms typically begin between the ages of 30 and 50, though onset can range from the late teens to the 70s. Early symptoms often include changes in personality, depression, difficulty with thinking and memory, and problems with movement. As the disease progresses, patients may develop seizures, difficulty walking, speech problems, and eventually severe dementia. The disease course varies but generally leads to significant disability over several years. Currently, there is no cure for ALSP. Treatment focuses on managing symptoms. Hematopoietic stem cell transplantation (bone marrow transplant) has shown promise in some patients and is being studied as a potential disease-modifying treatment.
Also known as:
Key symptoms:
Memory loss and difficulty thinking clearlyPersonality and behavior changesDepression or anxietyDifficulty walking and balance problemsSlowed or clumsy movementsMuscle stiffness or spasticitySeizuresDifficulty speaking or finding wordsTremor or involuntary movementsLoss of fine motor skills like writingDifficulty swallowingUrinary incontinenceProgressive dementiaWeight lossWeakness on one side of the body
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
10 eventsAssiut University
Mayo Clinic — PHASE2
Stephen Shiao — PHASE2
The Miriam Hospital — EARLY_PHASE1
Indonesia University — PHASE4
Assiut University
Sohag University
Beijing Tsinghua Chang Gung Hospital
Memorial Sloan Kettering Cancer Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Community
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Start the conversation →Latest news about Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Disease timeline:
New recruiting trial: An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Cohort of Tumors With POLE/D1 Mutation
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: The Effect of Propolis Administration on Cholesterol Level in Diabetic Type 2 Patients
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Atlantic Lipid Lowering Treatment Optimization Program
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Phase I/II Clinical Trial of Axatilimab, a CSF1R Monoclonal Antibody, in Combination With Ruxolitinib as Therapy for Patients With Myelofibrosis (MF) and Chronic Myelomonocytic Leukemia (CMML)
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Differential Thrombogenesis by EPA and DHA Mediated by HDL
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Phase I/II Study of Pacritinib, A JAK2/IRAK1/CSF1R Inhibitor, in Refractory Chronic Graft-Versus-Host Disease (cGVHD) After Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Study of High Density Lipoprotein Function in Type 1 Diabetic Patients With Nephropathy
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
New recruiting trial: Q702 for the Treatment of Patients With Hematologic Malignancies
A new clinical trial is recruiting patients for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage is the disease at based on my current MRI and symptoms?,Am I a candidate for hematopoietic stem cell transplantation, and what are the risks and benefits?,Should my family members be tested for the CSF1R gene mutation?,What symptoms should I watch for that would indicate the disease is progressing?,Are there any clinical trials I might be eligible for?,What therapies (physical, occupational, speech) should I start now to maintain function?,How should I plan for future care needs and legal/financial decisions while I am still able?
Common questions about Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
What is Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia?
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare brain disease that gradually destroys the white matter of the brain. White matter is the tissue that connects different parts of the brain and allows nerve cells to communicate with each other. ALSP was previously known by two separate names — hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) — but these are now recognized as the same condition. ALSP is caused by mutations in the CSF1R gene, which provides instructions for a protein important
How is Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia inherited?
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia typically begin?
Typical onset of Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia?
Yes — 5 recruiting clinical trials are currently listed for Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia?
25 specialists and care centers treating Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.