Other names: CALD

Cerebral Adrenoleukodystrophy (CALD) is a rare, progressive, neurodegenerative disease that primarily affects young boys.

CALD is caused by mutations in the ABCD1 gene. The gene mutation affects the production of adrenoleukodystrophy protein (ALDP) and subsequently leads to accumulation of very long-chain fatty acids (VLCFAs) in the white matter of the brain and spinal cord. The accumulation of VLCFAs leads to the breakdown of myelin, the protective sheath that nerve cells need to function effectively, especially for thinking and muscle control.

CALD causes irreversible, devastating neurologic decline, including major functional disabilities such as loss of communication, cortical blindness, requirement for tube feeding, total incontinence, wheelchair dependence, or complete loss of voluntary movement.

The onset of symptoms of CALD typically occurs in childhood (median age 7). Early diagnosis and treatment of CALD is essential, as nearly half of patients who do not receive treatment die within five years of symptom onset.

Skysona is the first FDA approved treatment for CALD. It is a one-time gene therapy that adds functional copies of the ABCD1 gene to the patient's own stem cells. This helps the body to break down the VLCFAs to slow the progression of damage to the brain and slow the decline in neurologic function.

Drugs used to treat Cerebral Adrenoleukodystrophy