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Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study
Matthew D Wright1, Michele D Poe1, Anthony DeRenzo1
1From the Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh, PA.
Insights
Early hematopoietic stem cell transplantation (HSCT) in infants with Krabbe disease significantly improves lifespan and functional abilities compared to no treatment or later transplantation.
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Krabbe disease is a rare, fatal genetic disorder affecting the nervous system.
- Early diagnosis and intervention are critical for managing infantile Krabbe disease.
Purpose of the Study:
- To evaluate the long-term outcomes of hematopoietic stem cell transplantation (HSCT) in infants diagnosed with early-infantile Krabbe disease.
- To assess the impact of early HSCT on survival and functional development.
Main Methods:
- Prospective longitudinal study design.
- Included 18 infants with early-infantile Krabbe disease undergoing HSCT within the first 7 weeks of life.
- Utilized serial brain imaging, neurodiagnostic tests, and neurobehavioral assessments for evaluation.
Main Results:
- Five out of 18 patients died; causes included peritransplant complications, unrelated surgical issues, and disease progression.
- Surviving patients demonstrated improved cognitive and receptive language skills, with some achieving normal ranges.
- Gross motor development varied, with some patients walking independently or with assistive devices; fine motor skills were generally preserved.
- Brain myelination and atrophy showed stabilization or improvement in most surviving patients.
Conclusions:
- Early HSCT significantly alters the natural history of Krabbe disease.
- Surviving patients exhibit substantially higher functional abilities and improved lifespan compared to untreated or symptomatic HSCT patients.
- Early intervention through HSCT offers a viable strategy for improving outcomes in early-infantile Krabbe disease.
Objective:
To describe long-term outcomes of children with early-infantile Krabbe disease who underwent hematopoietic stem cell transplantation (HSCT) in the first 7 weeks of life.
Methods:
In this prospective longitudinal study, evaluations performed at baseline and follow-up included brain imaging, neurodiagnostic tests, and neurobehavioral evaluations.
Results:
Of the 18 patients in this study (11 girls, 7 boys; mean follow-up 9.5 years, range 4-15), 5 died (3 of peritransplant complications, 1 of a surgical complication unrelated to Krabbe disease, 1 of disease progression). One of the surviving patients has normal cognitive function and 10 continue to develop cognitive skills at a slightly slower rate than normal. All surviving patients continue to gain receptive language skills, with 7 falling within the normal range. Ten patients receive speech therapy, and 2 of these patients require augmentative communication devices. Gross motor development varies widely, but 3 patients can walk independently, and 7 walk with assistive devices. Spasticity ranges from mild to severe, and 12 patients wear orthotics. Fine motor skills are generally preserved. Brain myelination and atrophy stabilized in 8 patients, improved in 4 patients, and worsened in 1 patient. Nerve conduction velocities initially improved but continue to be abnormal in most patients.
Conclusions:
The surviving patients function at a much higher level than untreated children or symptomatic children who underwent HSCT. These results show that early HSCT changes the natural history of this disease by improving both lifespan and functional abilities.
Classification Of Evidence:
This study provides Class IV evidence that for children with early-infantile Krabbe disease, early HSCT improves lifespan and functional abilities.
