Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the body’s ability to break down certain fat-based substances due to the lack of a critical enzyme. These substances build up and cause damage to the brain, spinal cord, and nervous system, leading to problems with speech, hearing, learning, and movement. ALD is sometimes referred to as a storage disease because the body stores these substances instead of breaking them down.

• Childhood cerebral ALD: This severe form typically begins between ages 4–8, though symptoms can appear in adulthood. It may cause:
  • Behavioral changes
  • Muscle cramps
  • Difficulty walking or swallowing
  • Hearing loss
  • Seizures

• Adrenomyelopathy (AMN): A milder form with symptoms usually starting between ages 21–35. People with AMN may experience:
  • Stiffness and weakness in the legs
  • Gradual loss of mobility

While adrenoleukodystrophy (ALD) currently has no cure, a blood or marrow transplant (BMT), also called a bone marrow or blood stem cell transplant, offers hope by potentially halting the progression of the disease. If performed early, when neurological symptoms first appear, blood stem cell transplantation can prevent further damage to the brain, spinal cord and nervous system.

BMT replaces unhealthy blood-forming cells with healthy ones, allowing the body to process fat-based substances and protect against additional complications. Although the transplant cannot reverse existing damage, it plays a vital role in preventing further progression.

In addition to transplantation, doctors focus on relieving symptoms and slowing disease progression to improve quality of life.

The most common type of transplant for ALD is an allogeneic transplant, which uses healthy blood-forming cells donated by:

The transplant process has three main stages: preparation, transplant and recovery.

1. Preparation: Treatment begins with chemotherapy (and sometimes radiation) to remove unhealthy cells in the bone marrow. This step creates space for the donor cells to engraft and function properly.
2. Transplant: Healthy donor cells are infused into the patient’s bloodstream through an intravenous (IV) catheter. These cells migrate to the bones, where they begin producing healthy blood-forming cells.
3. Recovery: Recovery can take several months and requires close monitoring to manage potential complications, such as:
   • Infections due to low blood cell counts
   • Graft-versus-host disease (GVHD), when donor immune cells attack the patient’s tissues

Your transplant team will guide and support you throughout this journey to ensure the best possible outcome.

Meeting with a transplant specialist early can improve treatment outcomes. If you or your child has been diagnosed with ALD, it’s essential to connect with a transplant doctor as soon as possible.

A transplant may be recommended if:

• The patient has been diagnosed with childhood cerebral ALD
• Symptoms are progressing quickly
• A suitable donor is available

At the first appointment, the transplant doctor will:

• Review your or your child’s medical history
• Talk with you about treatment options
• Discuss the risks and benefits of transplant
• Recommend the best time for you or your child to get a transplant and prepare for treatment
• Begin a donor search to access healthy cells
• Coordinate care with specialists like neurologists

Ask questions so you understand your treatment options and can make decisions that are best for you and your child. Questions you may want to ask include:

• What are the chances transplant will stop the ALD from causing more damage?
• What are the possible side effects of transplant? How can they be reduced?
• How might my or my child’s quality of life change over time, with or without transplant?
• What is the likelihood of success in my case?