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Treating Cerebral ALD

Allogeneic hematopoietic stem cell transplantation (allo-HSCT)

Currently, the only treatment for cerebral adrenoleukodystrophy (ALD) that can arrest disease progression is allogeneic hematopoietic stem cell transplantation (allo-HSCT)—and it can be lifesaving.1 Early diagnosis during the first signs of cerebral involvement is critical because outcomes with allo-HSCT are more favorable with earlier initiation of treatment.2

In a study of patients with both early and advanced cerebral ALD*

Treatment early in the course of cerebral disease demonstrated greater major function disability (MFD)-free survival and overall survival3

Early Disease* (n=27) 91% 76% 94%
Advanced Disease* (n=10) 20% 10% 90%
Overall survival was assessed at both 2 and 5 years from cerebral ALD diagnosis.

Early Disease* with Number of Patients at Risk

Graph illustrating survival of early cerebral ALD patients treated with allo-HSCT

Advanced Disease* with Number of Patients at Risk

Graph illustrating survival of advanced cerebral ALD patients treated with allo-HSCT

* Early disease: NFS≤1, Loes score 0.5 to ≤9, GdE+; Advanced disease: NFS>1, Loes score >9, GdE+; NFS=neurologic function score: a 25-point score used to evaluate the severity of gross neurologic dysfunction in cerebral ALD by scoring 15 symptoms across 6 categories (hearing, communication, vision, feeding, locomotion, and incontinence); Loes score is a 34-point scale commonly used to quantify the extent of demyelinating brain lesions seen on MRIs in cerebral ALD (higher scores indicate more severe disease); GdE+=positive for gadolinium contrast enhancement, an indicator of active neuroinflammatory disease.

† MFDs: loss of communication, cortical blindness, tube feeding, total incontinence, wheelchair dependence, and complete loss of voluntary movement.

In addition to measuring overall survival, it is also important to measure MFD-free survival in cerebral ALD. MFDs are six severe disabilities commonly attributed to cerebral ALD-they are of particular clinical importance because they can significantly compromise a patient’s ability to function independently. These MFDs are:3

  • Loss of communication
  • Cortical blindness
  • Tube feeding
  • Total incontinence
  • Wheelchair dependence
  • Complete loss of voluntary movement

Although allo-HSCT has survival benefits, it also has significant risks and challenges1,3,4

Allo-HSCT can arrest disease progression if performed during the early stage of cerebral involvement, but it has significant associated risks. These include transplant-related mortality (TRM), graft failure or rejection, graft-versus-host disease (GVHD), and the potential for opportunistic infections.1,3,4

  • 100-day transplant-related mortality (TRM) rates of 8% to 12% have been reported for patients receiving allo-HSCT1,3,4
  • Engraftment after allogeneic transplant is not a certainty, with graft failure rates ranging from 5% to 18%1,3,4
  • The development of acute and chronic graft-versus-host disease (GVHD) is a significant risk of allogeneic transplant leading to long-term morbidity and significant decrease in survival. GVHD rates have been reported at 18% to 39% for acute GVHD grades 2-4 and 7% to 32% for chronic GVHD1,3,4
  • The need for immunosuppression to prevent or treat GVHD following allo-HSCT is also associated with a prolonged, continuous risk, including serious infection which has been reported in 11% to 29% of patients3-7

Safety outcomes are typically more favorable if allo-HSCT is performed using cells from a human leukocyte antigen (HLA)–matched sibling donor; however, less than 30% of patients have a matched sibling donor.1,3

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