ALD Connect
Cycle 3
Adrenoleukodystrophy (ALD) is an X-linked disease that is caused by an underlying genetic mutation in the ABCD1 gene, which affects the body’s ability to create the protein that helps break down very long–chain fatty acids (VLCFAs). The VLCFAs build up in the brain, nervous system, and adrenal gland and may eventually destroy the myelin sheath that surrounds the nerves. ALD affects approximately 1 in 17,000 people worldwide.
Last updated 04/30/2025
Clinical
Disease Class
Genetic diseases
Inherited metabolic disorder
Neurological diseases
Body Systems
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Organs
Adrenal glands
Bladder
Brain
Muscles
Nerves
Spinal cord
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ABCD1
contributory_genes
None specified / unknown
Type of Inheritance
X-linked dominant
Newborn Screening
Yes, in some states
Disease Mechanism(s)
Inherited metabolic disorder
Peroxisomal defect
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Middle childhood (6-11)
Average Age at Diagnosis
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Elderly (age 65+)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
abnormality of skin pigmentation
adrenal insufficiency
adrenomyeloneuropathy
behavioral changes
bowel incontinence
cerebral adrenoleukodystrophy
cognitive impairment / confusion / brain fog
fatigue
hypotension
lower limb muscle weakness
muscle stiffness
muscle weakness
pain, chronic
poor coordination
urinary incontinence
vision problems
Biomarkers
Diagnostic
· VCLFAs, ABCD1 gene mutation, C26 lysoPC
Monitoring
· Brain MRI (demyelination), ACTH, cortisol
Existing Therapies
Expanded access (Compassionate Use)
FDA-Approved to Cure or Modify the Disease
· Skysona (lenti-D) gene therapy for early cerebral ALD in boys
Other
· Allogeneic hematopoietic stem cell transplant (BMT)
Organizational & Research
Cell Lines
None
Disease Model
Drosophila/fly
Disease Model, Involvement
Funded
Disease Model, share
No
Clinical Trial Role
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
No, we do not have a registry and have no plans to create one
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have published formal guidelines in a peer-reviewed journal
Yes, we have guidance available on our website
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe
South America