An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding familial hyperinsulinism is limited due to its rarity, which affects fewer than 1 in 50,000 live births. This low prevalence results in fewer systematic clinical studies and a lack of comprehensive characterization of clinical features. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in knowledge.
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Currently, there are four orphan drugs designated for familial hyperinsulinism, including a fully human IgG2 monoclonal antibody targeting insulin receptors and a pegylated glucagon receptor agonist. There are also 14 active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=familial%20hyperinsulinism.
Actionable guidance for navigating care for familial hyperinsulinism
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding familial hyperinsulinism is limited due to its rarity, which affects fewer than 1 in 50,000 live births. This low prevalence results in fewer systematic clinical studies and a lack of comprehensive characterization of clinical features. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in knowledge.
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Currently, there are four orphan drugs designated for familial hyperinsulinism, including a fully human IgG2 monoclonal antibody targeting insulin receptors and a pegylated glucagon receptor agonist. There are also 14 active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=familial%20hyperinsulinism.
Actionable guidance for navigating care for familial hyperinsulinism
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding familial hyperinsulinism is limited due to its rarity, which affects fewer than 1 in 50,000 live births. This low prevalence results in fewer systematic clinical studies and a lack of comprehensive characterization of clinical features. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in knowledge.
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Currently, there are four orphan drugs designated for familial hyperinsulinism, including a fully human IgG2 monoclonal antibody targeting insulin receptors and a pegylated glucagon receptor agonist. There are also 14 active clinical trials investigating various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=familial%20hyperinsulinism.
Actionable guidance for navigating care for familial hyperinsulinism
To navigate familial hyperinsulinism, consider consulting an endocrinologist with expertise in metabolic disorders, particularly those related to insulin regulation. Genetic counseling may also be beneficial, especially given the involvement of the INSR gene. While there are currently no patient organizations specifically identified for FHI, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Participating in ongoing clinical trials may also provide access to cutting-edge therapies and contribute to the understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.