Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers
IntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects that impact life and well-being.MethodsThe st...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1628125/full |
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| author | Tai L. S. Pasquini Kristen E. Rohli Fiona J. Almeida Indraneel Banerjee Antonia Dastamani Diva D. De Leon Lauren N. Lopez Paul S. Thornton Julie Raskin |
| author_facet | Tai L. S. Pasquini Kristen E. Rohli Fiona J. Almeida Indraneel Banerjee Antonia Dastamani Diva D. De Leon Lauren N. Lopez Paul S. Thornton Julie Raskin |
| author_sort | Tai L. S. Pasquini |
| collection | DOAJ |
| description | IntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects that impact life and well-being.MethodsThe study utilized a mixed-methods approach combining structured, survey-based cross-sectional quantitative data from the HI Global Registry (HIGR) (n=165, 89% were caregivers), of whom 75% reported current diazoxide use, with qualitative interviews with caregivers (n=12) and individuals with HI (n=6). This is the first mixed-methods study to focus on the experience of diazoxide treatment as reported by the individual taking the medicine and/or their caregiver.ResultsOf HIGR participants, 93% reported at least one side effect, including hypertrichosis (89%), loss of appetite (40%), facial changes (23%), and swelling (22%) with diazoxide use. In HIGR, 37% of people currently on diazoxide reported experiencing hypoglycemia up to several times per week. Interview participants described how these side effects, the drug’s taste, and feeding difficulties associated with HI and diazoxide adversely impacted daily life.DiscussionDiazoxide is commonly used by families living with HI, but a significant proportion reported hypoglycemia. Individuals who experienced better glycemic control with the drug were less critical of side effects. Combining HIGR data with in-depth interviews facilitated understanding of day-to-day life, which can help implement measures to better support families managing HI. This study prompts the need for improved treatment options and for clinicians to utilize the International HI Care Guideline to optimize diazoxide therapy. |
| format | Article |
| id | doaj-art-9f02d21c5d024a97ba5fa80ca351962d |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-9f02d21c5d024a97ba5fa80ca351962d2025-08-22T05:45:44ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-08-011610.3389/fendo.2025.16281251628125Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregiversTai L. S. Pasquini0Kristen E. Rohli1Fiona J. Almeida2Indraneel Banerjee3Antonia Dastamani4Diva D. De Leon5Lauren N. Lopez6Paul S. Thornton7Julie Raskin8Congenital Hyperinsulinism International, Glen Ridge, NJ, United StatesCongenital Hyperinsulinism International, Glen Ridge, NJ, United StatesDepartment of Health Promotion and Policy, School of Public Health & Health Sciences, University of Massachusetts Amherst, Amherst, MA, United StatesDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, United KingdomDepartment of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, National Health Service (NHS) Foundation Trust, London, United KingdomCongenital Hyperinsulinism Center and Division of Endocrinology and Diabetes, Department of Pediatrics, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United StatesCongenital Hyperinsulinism International, Glen Ridge, NJ, United StatesHyperinsulinism Center, Division of Endocrinology, Cook Children’s Medical Center, Fort Worth, TX, United StatesCongenital Hyperinsulinism International, Glen Ridge, NJ, United StatesIntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects that impact life and well-being.MethodsThe study utilized a mixed-methods approach combining structured, survey-based cross-sectional quantitative data from the HI Global Registry (HIGR) (n=165, 89% were caregivers), of whom 75% reported current diazoxide use, with qualitative interviews with caregivers (n=12) and individuals with HI (n=6). This is the first mixed-methods study to focus on the experience of diazoxide treatment as reported by the individual taking the medicine and/or their caregiver.ResultsOf HIGR participants, 93% reported at least one side effect, including hypertrichosis (89%), loss of appetite (40%), facial changes (23%), and swelling (22%) with diazoxide use. In HIGR, 37% of people currently on diazoxide reported experiencing hypoglycemia up to several times per week. Interview participants described how these side effects, the drug’s taste, and feeding difficulties associated with HI and diazoxide adversely impacted daily life.DiscussionDiazoxide is commonly used by families living with HI, but a significant proportion reported hypoglycemia. Individuals who experienced better glycemic control with the drug were less critical of side effects. Combining HIGR data with in-depth interviews facilitated understanding of day-to-day life, which can help implement measures to better support families managing HI. This study prompts the need for improved treatment options and for clinicians to utilize the International HI Care Guideline to optimize diazoxide therapy.https://www.frontiersin.org/articles/10.3389/fendo.2025.1628125/fullcongenital hyperinsulinismhypoglycemiadiazoxiderare diseasesendocrinologynatural history |
| spellingShingle | Tai L. S. Pasquini Kristen E. Rohli Fiona J. Almeida Indraneel Banerjee Antonia Dastamani Diva D. De Leon Lauren N. Lopez Paul S. Thornton Julie Raskin Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers Frontiers in Endocrinology congenital hyperinsulinism hypoglycemia diazoxide rare diseases endocrinology natural history |
| title | Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| title_full | Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| title_fullStr | Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| title_full_unstemmed | Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| title_short | Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| title_sort | real world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers |
| topic | congenital hyperinsulinism hypoglycemia diazoxide rare diseases endocrinology natural history |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1628125/full |
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