ALD |Overview
Adrenoleukodystrophy (ALD)is a genetic disease that most severely affects boys. Caused by a defective gene on the X chromosome, it triggers a build-up of fatty acids that damage the protective myelin sheaths of the brain’s neurons, leading to cognitive and motor impairment. The most devastating form of the disease is cerebral adrenoleukodystrophy (CALD), marked by loss of myelin and brain inflammation. Without treatment, ALD ultimately leads to a vegetative state, typically claiming boys’ lives within 10 years of diagnosis.
ALD is caused by a mutation to theABCD1gene on the X chromosome.ABCD1controls the body’s production of an enzyme known as ALD protein, which normally breaks down fatty acids; however, when a mutation interrupts the function of ALD protein, fatty acids build up and accumulate causing widespread demyelination, often accompanied by adrenal gland dysfunction.
Newborn screening and childhood genetic testing can identify the defectiveABCD1gene beforesymptoms of adrenoleukodystrophyoccur, creating a small window of opportunity to prevent the disease’s degenerative effects before they begin to irreversibly accumulate.
ALD gene therapy clinical trial
 |
Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) |
 |
Recruiting males up to 17 years old (full eligibility criteria) |
 |
Boston Children's Hospital |
 |
Started: Jan. 2019 |
 |
Christine Duncan, principal investigator |
 |
Colleen Dansereau, MSN, RN, CPN:617-919-7008orcolleen.dansereau@childrens.harvard.edu |
