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Global Registries in Congenital Hyperinsulinism.
Tai L S Pasquini1, Mahlet Mesfin1, Jennifer Schmitt1
1Congenital Hyperinsulinism International, Glen Ridge, NJ, United States.
Frontiers in Endocrinology
|June 20, 2022
Summary
Congenital hyperinsulinism (HI) patient data reveals disease burden and treatment challenges. The HI Global Registry (HIGR) offers insights for improved care and future research in this rare condition.
Area of Science:
- Pediatric Endocrinology
- Rare Diseases
- Patient-Reported Outcomes
Background:
- Congenital hyperinsulinism (HI) is a primary cause of severe hypoglycemia in children.
- Critical research needs include natural history, novel treatments, and early management to prevent brain damage.
- Patient-reported data is crucial for understanding the daily impact of HI.
Purpose of the Study:
- To characterize congenital hyperinsulinism (HI) using patient experiences from the HI Global Registry (HIGR).
- To provide descriptive statistics on various aspects of living with HI.
- To identify areas for future research and improve patient care.
Main Methods:
- Utilized the HI Global Registry (HIGR), a patient-powered registry established in 2018.
- Employed thirteen surveys developed by experts and patient advocates covering lifetime HI experiences.
- Analyzed descriptive statistics from 344 respondents across 37 countries as of January 2022.
Main Results:
- Data includes birthing, hospitalization, medication, feeding, and glucose monitoring experiences.
- Insights gained into access challenges, patient/caregiver quality of life, and clinical trial informatio.
- 83.9% of respondents were parents/guardians; 15.3% were individuals with HI.
Conclusions:
- The HIGR provides valuable data for understanding HI's natural history and disease burden.
- Registry data can inform clinical trial design and improve standards of care.
- Leveraging patient-reported outcomes from HIGR can enhance the lives of those affected by HI.
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