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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

MRI should be performed every 6 months
in 3- To 12-year-old boys with ALD 2

MRI schedule graph

MRI schedule graph

MRI screening guidelines for signs of cerebral ALD

Since there is no way to predict which patients with ALD will progress to cerebral ALD, it is important to detect cerebral ALD via MRI as early as possible, as the disease can progress very rapidly.2,3

Brain changes detected through MRI precede the onset of clinical symptoms of cerebral ALD by months—once these symptoms develop, it is often too late to treat effectively because of the rapid progression of the disease.6

Monitoring for brain changes related to ALD involves an MRI about every 6 months through the critical window when they are at the highest likelihood of cerebral progression—this is crucial because identifying changes early can help us provide treatment.

-Bradley Miller, MD, PhD Pediatric endocrinologist

Reproduced with permission from Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X‑linked adrenoleukodystrophy. Science. 2009;326(5954):818-823.
Scan of brain experiencing initial symptoms

INITIAL SYMPTOMS

  • Poor school performance
  • Behavioral problems
  • May be misdiagnosed as ADHD
Scan of brain experiencing moderate disability

MODERATE DISABILITY

  • Hearing
  • Aphasia/apraxia
  • Vision impairment
  • Swallowing dysfunction
  • Walking/running difficulties
  • Episodes of incontinence
  • Seizures
Scan of brain experiencing major functional disability

MAJOR FUNCTIONAL DISABILITY

  • Cortical blindness
  • Loss of communication
  • Tube feeding
  • Wheelchair dependence
  • No voluntary movement
  • Total incontinence

Early diagnosis of ALD, along with regular monitoring by a neurologist, 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 with an integrated team of physicians, including a pediatric endocrinologist, a neurologist, a metabolic and genetic specialist, and a transplant team, to carefully monitor and help detect any signs of progression to cerebral ALD.1 Each specialty brings unique expertise—explore the tabs below to learn more about the contributions of each team member.

Pediatric Endocrinologists

Pediatric endocrinologists perform regular adrenal assessments, provide referrals to other specialists, and provide ongoing management and treatment of adrenal symptoms.7

Pediatric neurologists or metabolic disease specialists can offer specialized resources designed to help monitor and manage ALD.1,7

Neurologists

Neurologists can conduct vigilant MRI monitoring to help in timely identification of life-threatening cerebral ALD.1 If progression to cerebral ALD is detected, a neurologist can provide consultations on treatment, as well as broader access to specialized resources that can help boys and families manage ALD.

Metabolic and genetic specialists

Metabolic and genetic specialists coordinate care and provide genetic counseling and screening to the patient’s family.8

Transplant specialists

Transplant specialists provide consultations on treatment if tests indicate progression to cerebral ALD.1,9



An integrated care team can offer specialized resources designed to help manage ALD.1,7

Vigilant monitoring and early diagnosis can have a positive impact on clinical outcomes1

Early diagnosis of ALD, along with regular monitoring, can help neurologists 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 neurologist to determine next steps.1,2

  • Implement a mri monitoring plan for your patient

    If monitoring is not part of your normal care routine, refer your patient to a neurologist.

  • Collaborate with an integrated multidisciplinary ald health care team

    Comprehensive care involves several disciplines.

  • Work with a bone marrow transplant physician to plan for treatment if needed

    Consult with a transplant physician early to ensure timely treatment‑results are more favorable the earlier treatment is started.1

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