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Monitoring ALD

Vigilant MRI monitoring can help identify progression to cerebral adrenoleukodystrophy (ALD)1,2

Cerebral ALD is a rapidly progressing, life-threatening disease that should be diagnosed as early as possible to help prevent irreversible brain damage.1-4 It involves the destruction of the myelin sheath that protects nerve cells in the brain.2 If left undiagnosed and untreated, the progression of cerebral ALD is rapid, causing severe loss of neurologic functions including loss of cognition, vision, hearing, and motor function. Ultimately cerebral ALD results in death.2,4

Regular MRI scans in boys diagnosed with ALD are critical to detect white matter changes indicative of progression to cerebral ALD.1

  • White matter changes on MRI precede the onset of symptoms, so MRI monitoring is critical as it can detect progression to cerebral ALD before any symptoms arise.1
  • Symptoms of progression to cerebral ALD may mimic conditions like attention-deficit/hyperactivity disorder (ADHD), autism, or other home and school problems, which can delay diagnosis.1,5

Current guidance recommends an MRI annually until age 3, every 6 months between ages 3 and 12, and annually thereafter2

MRI schedule graph

MRI schedule graph

ALD monitoring scan

Early diagnosis of ALD, along with regular monitoring by an ALD specialist, can enable treatment before severe and irreversible brain damage occurs.1 Even in the absence of symptoms, regular MRI monitoring is critical, as scans may reveal abnormalities prior to the detection of any cognitive dysfunction.4 In elementary school–aged boys, early symptoms of cerebral ALD can include cognitive deficits and behavioral problems that may manifest as a decline in school performance.2,5

An integrated care team may help improve overall health and survival

After diagnosis, it’s important to work together with an integrated team of physicians, including ALD specialists who can carefully monitor and help detect any signs of progression to cerebral ALD.1 Working with an ALD specialist—such as a pediatric neurologist or a metabolic disease specialist—can offer specialized resources designed to help manage ALD.1,6 A neurologist or other ALD specialists can conduct vigilant MRI monitoring to help in timely identification of life-threatening cerebral ALD.1

Roles of an ALD care team

A neurologist who specializes in ALD can provide the following:1

  • Regular magnetic resonance imaging (MRI) to monitor for changes in the brain indicative of cerebral progression
  • Consultations on treatment if progression to cerebral ALD is detected
  • Broader access to specialized resources that can help boys and families manage ALD

The pediatric endocrinologist will provide:6

  • Regular adrenal assessments and referral to neurologist or metabolic specialist
  • Ongoing management and treatment of adrenal symptoms

Metabolic and genetic specialists can provide:7

  • Coordination of care
  • Regular MRI to monitor for changes in the brain indicative of cerebral progression
  • Counseling and screening for the family

Transplant Team:8

  • Consultations on treatment if progression to cerebral ALD is detected

Consult with a pediatric neurologist who specializes in ALD and can provide:1

Regular MRI monitoring

Insights on treatment

Early diagnosis of ALD, along with regular monitoring, can help ALD specialists initiate treatment before severe and irreversible brain damage occurs.1 If and when cerebral symptoms develop, it is critical that patients work together with their ALD specialist to determine next steps.1,2

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