The Hunter's Hope Krabbe family database

Area of Science:

• Pediatric Neurology
• Rare Genetic Disorders
• Lysosomal Storage Diseases

Background:

• Krabbe disease is a severe, rare lysosomal storage disorder affecting infants.
• Early identification and understanding of Krabbe disease phenotypes are critical for management.

Purpose of the Study:

• To identify presenting signs and symptoms of Krabbe disease.
• To determine the age of symptom onset and diagnosis.
• To analyze survival rates in a large pediatric population.

Main Methods:

• Analysis of deidentified clinical data from 334 families collected by Hunter's Hope Foundation (1997-2006).
• Data included country of origin, sex, age at onset/diagnosis, symptoms, initial diagnosis, and survival.
• Categorization of patients based on age at symptom onset.

Main Results:

• 71% of patients showed symptoms between 0-6 months, 19% between 7-12 months, and 10% later.
• Common early symptoms (0-12 months): crying, irritability, stiffness, seizures.
• Older children presented with gait issues or loss of milestones.
• Survival rates were significantly worse for early infantile phenotype (0-6 months onset).

Conclusions:

• Age at onset is a significant factor in Krabbe disease survival.
• Recognizing earliest symptoms is vital for timely diagnosis.
• This data enhances understanding of Krabbe disease natural history and phenotypes.