ALD Connect

Cycle 3

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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 04/30/2026

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)

Other

Peroxisomal dysfunction

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)

Other

· Allogeneic hematopoietic stem cell transplant (BMT)

Regulatory Agency-Approved to Cure or Modify the Disease

· Skysona (lenti-D) gene therapy for early cerebral ALD in boys

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

· Allo-BMT

Gene therapy

· Skysona

Small molecule therapy (novel small molecule drugs)

· MIN-102

Therapeutic Development Stages

Approved/Available

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Organizational & Research

Cell Lines

None

Disease Model

Drosophila/fly

Disease Model, Involvement

Funded

Disease Model, share

Organizational Challenges

Industry engagement

Clinical Trial Role

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Clinical Trial Types

Phase 3

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

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None

Europe

South America

None