Patients & Families

adrenoleukodystrophy

  • Adrenoleukodystrophy (ALD) is a rare, X-linked genetic metabolic disease in which approximately 40 percent of affected boys will develop the most severe form of the disease, cerebral ALD (CALD)
  • CALD is a relentlessly progressive neurodegenerative disease that is generally fatal or severely debilitating.
    • CALD is caused by mutations in the ABCD1 gene, which result the toxic accumulation of very long chain fatty acids (VLCFA).
    • Symptoms of CALD usually occur in early childhood and progress rapidly. Initial symptoms may include poor school performance and behavioral problems. These rapidly progress to major functional disabilities (MFDs) that have a profound negative impact on patients’ lives.

Early diagnosis and treatment of CALD is critical. Early diagnosis of CALD depends on early diagnosis of ALD, followed by close monitoring by doctors. Currently, newborn screening for ALD is in place in a limited number of U.S. states and in few other countries. Newborn screening detects ALD at birth, allowing boys at risk for CALD to be monitored and identified prior to the onset of symptoms.

Currently, the only proven effective treatment option for CALD is a bone marrow transplant (BMT, also called a stem cell transplant or allogeneic hematopoietic stem cell transplant). You can find more information about BMT using the resources below.

bluebird bio clinical studies in CALD:

bluebird bio is conducting a global phase 2/3 clinical study to determine if a one-time gene therapy can stop the progression of CALD, and if it is safe and well tolerated. To learn more about this investigational clinical study visit clinicaltrials.gov.

The following is a representation of organizations that offer resources and information for patients with ALD/CALD, their families, and caregivers:

Bone Marrow Transplant Resources

ALD/CALD Resources