Patients & Families

adrenoleukodystrophy

  • Adrenoleukodystrophy (ALD) is a rare, X-linked, genetic disorder in which mutations in the ABCD1 gene lead to loss of function of adrenoleukodystrophy protein (ALDP)
  • Loss of function of ALDP results in the toxic accumulation of very-long chain fatty acids (VLCFAs) in blood and all tissues, but primarily affects the adrenal glands and nervous system
  • A severe form of ALD, known as cerebral adrenoleukodystrophy (CALD), will develop in approximately 40% of males with ALD
  • Symptoms of CALD usually occur in early childhood and progress rapidly if untreated, leading to severe loss of brain function and eventual death in most patients
  • Hematopoietic stem cell transplant (HCT) can be life-saving, provided it is conducted early in the course of cerebral disease

Also known as Lorenzo’s Oil disease, adrenoleukodystrophy (ALD) is estimated to affect one in every 21,000 male births worldwide. The cerebral form of the disease, cerebral adrenoleukodystrophy (CALD), is a potentially fatal form of ALD that affects the nervous system of boys. CALD involves a breakdown of the protective sheath of the nerve cells in the brain that are responsible for thinking and muscle control.

Currently, the only effective treatment option for patients with CALD is allogeneic hematopoietic stem cell transplant (HCT). In HCT, blood stem cells from a related or unrelated individual are put into the patient to replace the malfunctioning cells of the recipient. Prior to treatment with the donated cells, patients undergo an intensive process called ‘conditioning’.  Conditioning uses chemotherapy drugs to remove the patient’s blood stem cells in the bone marrow to “make room” for the donor cells. Potential complications of allogeneic HCT, which can be fatal, include graft failure, graft versus host disease (GVHD) and opportunistic infections, particularly in patients who undergo allogeneic HCT using cells from a donor who is not a matched, unaffected sibling.

Early diagnosis of CALD is important, as the outcome of HCT varies with clinical stage of the disease at the time of transplant. Favorable outcomes have been observed in patients who undergo transplant in the early stages of cerebral disease. Therefore, it is critical to identify ALD early so that affected boys can be monitored regularly with brain imaging (MRI) to detect progression to CALD, and treatment can begin. In the United States, newborn screening for ALD was added to the Recommended Universal Screening Panel (RUSP) in February, 2016. The RUSP is a recommended listing of health conditions for which there is thought to be sufficient evidence that newborn screening leads to improved health outcomes. With newborn screening, ALD can be detected at birth, allowing boys at risk for CALD to be monitored and identified prior to the onset of symptoms.  Newborn screening for ALD is active in a limited number of states in the US, as well as other countries.

To learn more about HCT or bone marrow transplant, additional resources can be found at the following: National Bone Marrow Donor Program’s Be the Match, Bone Marrow Donors Worldwide (BMDW) or the World Marrow Donor Association (WMDA).

The following organizations offer resources and information for CALD patients, their families and their caregivers:

learn about our clinical trial for CALD

learn more about how stem cell transplant works