Krabbe Disease Treatment & Management

Updated: May 03, 2017
  • Author: Reem Saadeh-Haddad, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Treatment

Medical Care

Following the emergence of hematopoietic stem cell transplantation (HSCT) as a potential treatment for Krabbe disease, newborn screening has been implemented in New York State with additional states scheduled to follow suit. Numerous studies in human and animal models have shown varying degrees of benefit with HSCT, with greatest benefit occurring in patients who are asymptomatic or mildly symptomatic and when transplanted within the 1st month of life. [43, 45]

HCST should be considered in individuals with late-onset or slowly progressive Krabbe disease and in individuals with infantile-onset disease, in the early neonatal asymptomatic period. Short-term benefits with HSCT are reported in the medical literature, including a suggestion of delayed progression and improved survival; however, transplantation mortality rates are 15%.

Data on long-term posttransplant neurocognitive and survival outcomes are accumulating. Positive long-term effects of HSCT in presymptomatic infants includes an apparent increase in length of survival, improvements in quality of life versus those that are not transplanted, and an attenuated degree of neurologic complications, with some retaining normal receptive language skills and developing ambulation (although usually requiring assistive devices).

Limitations of HSCT include the persistent development of neurologic deficits, most of which are progressive in nature, including microcephaly, spasticity, growth restriction, and developmental delay (both verbal and motor) with regression. Ultimately, lack of curative effect is associated with HSCT. [45]

Symptomatic treatment for some neurologic sequelae is available but has no significant effect on the clinical course.

Research continues into treatments targeting inflammatory markers, [46] enzyme replacement therapy, gene therapy, and neural stem cell transplantation, although this has not yet advanced to the point of clinical trials.

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Consultations

The following consultations are indicated:

  • Clinical geneticist - For initial evaluation and diagnosis, for counseling families regarding recurrence risk, and to help provide prenatal testing if desired in future pregnancies
  • Neurologist - For symptomatic therapy and documentation of the multiple neurologic sequelae
  • Ophthalmologist
  • Audiologist
  • Social worker
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Diet

No known dietary modifications significantly alter the clinical course of Krabbe disease. Infants may ultimately require tube feedings for adequate energy intake; however, nutritional support does not change the disease course; therefore, some families may choose to forgo invasive alimentation methods.

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Activity

Neurologic sequelae may preclude adequate physical activity. Patients may benefit from physical and occupational therapy.

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Long-Term Monitoring

Treatment of symptomatic individuals with infantile-onset Krabbe disease who are already at stage 2 or 3 is limited to supportive care.

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