Hyperinsulinemic hypoglycaemia

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ORPHA:443095
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5Active trials28Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Hyperinsulinemic hypoglycemia (also called congenital hyperinsulinism, persistent hyperinsulinemic hypoglycemia of infancy, or CHI) is a condition where the pancreas produces too much insulin, causing blood sugar levels to drop dangerously low. Insulin is the hormone that lowers blood sugar, so when too much is made — even when blood sugar is already low — the body cannot keep glucose at a safe level. The brain and other organs depend heavily on glucose for energy, so repeated or prolonged low blood sugar can cause serious harm, especially in babies and young children. The most common symptoms include shakiness, sweating, irritability, poor feeding, seizures, and in severe cases, loss of consciousness. In newborns, the signs can be subtle and easy to miss, which makes early diagnosis very important. Some forms are caused by changes (mutations) in specific genes that control how insulin is released from the pancreas, while other forms are linked to conditions like maternal diabetes or birth stress. Treatment ranges from frequent feeding and glucose supplementation to medications like diazoxide or octreotide, and in some cases surgery to remove part of the pancreas. With early diagnosis and proper management, many children do well, but without treatment, repeated low blood sugar episodes can lead to brain injury and developmental delays.

Key symptoms:

Low blood sugar (hypoglycemia)Shakiness or tremblingSweating, especially in infantsIrritability or unusual fussinessPoor feeding or refusing to eatSeizures or convulsionsPale or bluish skin colorLimpness or low muscle toneRapid heartbeatExtreme tiredness or lethargyConfusion or difficulty concentrating in older childrenLoss of consciousness in severe casesDevelopmental delays if untreated over time

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

5 events
Jan 2024RZ358 Treatment for Congenital Hyperinsulinism

Rezolute — PHASE3

TrialACTIVE NOT RECRUITING
May 2022HM15136 (Efpegerglucagon) Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI)

Hanmi Pharmaceutical Company Limited — PHASE2

TrialRECRUITING
May 2019Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon in Children With Congenital Hyperinsulinism

Zealand Pharma — PHASE3

TrialACTIVE NOT RECRUITING
Nov 201618FluoroLDOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism

Miguel Pampaloni — PHASE2

TrialRECRUITING
Oct 2013Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma

Cook Children's Health Care System — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Hyperinsulinemic hypoglycaemia.

5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

5 recruitingView all trials with filters →
Phase 32 trials
RZ358 Treatment for Congenital Hyperinsulinism
Phase 3
Active
PI: Gopal Saha, MD (Rezolute) · Sites: Philadelphia, Pennsylvania; Fort Worth, Texas +16 more · Age: 045 yrs
Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon in Children With Congenital Hyperinsulinism
Phase 3
Active
PI: Clinical Trial Information Desk (Zealand Pharma) · Sites: Aurora, Colorado; Philadelphia, Pennsylvania +8 more · Age: 013 yrs
Phase 22 trials
18FluoroLDOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism
Phase 2
Actively Recruiting
PI: Miguel Hernandez Pampaloni, MD, PhD (University of California, San Francisco) · Sites: San Francisco, California · Age: 018 yrs
HM15136 (Efpegerglucagon) Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI)
Phase 2
Actively Recruiting
· Sites: Los Angeles, California; Philadelphia, Pennsylvania +5 more · Age: 299 yrs
Phase 11 trial
Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma
Phase 1
Actively Recruiting
PI: Paul Thornton, MD (Cook Children's Health Care System) · Sites: Fort Worth, Texas · Age: 018 yrs

Specialists

Showing 25 of 28View all specialists →
RR
Rachel Romans
SEATTLE, WA
Specialist
1 Hyperinsulinemic hypoglycaemia publication
MB
Mercedes J Burnside
Specialist
1 Hyperinsulinemic hypoglycaemia publication
PB
Paul Benitez-Aguirre
Specialist
1 Hyperinsulinemic hypoglycaemia publication
FG
Frances Gehrmann
Specialist
1 Hyperinsulinemic hypoglycaemia publication
CC
Catherine S Choong
Specialist
1 Hyperinsulinemic hypoglycaemia publication
AA
Ashley Alexander
Specialist
1 Hyperinsulinemic hypoglycaemia publication
VV
Vallimayil Velayutham
Specialist
1 Hyperinsulinemic hypoglycaemia publication
PK
Payal S Kubsad
Specialist
1 Hyperinsulinemic hypoglycaemia publication
HV
H N Vani
WEST HEMPSTEAD, NY
Specialist
1 Hyperinsulinemic hypoglycaemia publication
TS
Tejasvi Sheshadri
Specialist
1 Hyperinsulinemic hypoglycaemia publication
RP
Raghupathy Palany
Specialist
1 Hyperinsulinemic hypoglycaemia publication
CP
Chandra Prabha
WASHINGTON, DC
Specialist
1 Hyperinsulinemic hypoglycaemia publication
ST
Shalini Tripathi
CLEVELAND, OH
Specialist
1 Hyperinsulinemic hypoglycaemia publication
AB
Arpita Bhriguvanshi
NEPTUNE, NJ
Specialist
1 Hyperinsulinemic hypoglycaemia publication
MK
Mala Kumar
Specialist
1 Hyperinsulinemic hypoglycaemia publication
LM
Lisa J States, MD
PHILADELPHIA, PA
Specialist
PI on 2 active trials1 Hyperinsulinemic hypoglycaemia publication
EM
Elizabeth Rosenfeld, MD
NEW YORK, NY
Specialist
PI on 1 active trial
FM
Filip M. Knop, Prof., MD
Specialist
PI on 1 active trial
HM
Helen Lawler, MD
AURORA, CO
Specialist
PI on 1 active trial
SM
Shalamar D Sibley, MD
MINNEAPOLIS, MN
Specialist
PI on 1 active trial
MM
Mike McDermott, MD
Specialist
PI on 1 active trial
MM
Marilyn Tan, MD
STANFORD, CA
Specialist
PI on 2 active trials
RR
Rémi Rabasa-Lhoret
Specialist
PI on 7 active trials3 Hyperinsulinemic hypoglycaemia publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hyperinsulinemic hypoglycaemia.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What is the specific cause of my child's hyperinsulinism — is it genetic, and which gene is involved?,Is this a focal or diffuse form, and how does that affect treatment options?,Should we do genetic testing on the whole family, and what does the result mean for future pregnancies?,What are the signs that diazoxide is working, and what should we do if it stops working?,What is our emergency plan if my child has a severe low blood sugar episode at home or at school?,What long-term monitoring does my child need for brain development, learning, and possible diabetes?,Are there clinical trials or specialized centers we should consider for our child's care?

Common questions about Hyperinsulinemic hypoglycaemia

What is Hyperinsulinemic hypoglycaemia?

Hyperinsulinemic hypoglycemia (also called congenital hyperinsulinism, persistent hyperinsulinemic hypoglycemia of infancy, or CHI) is a condition where the pancreas produces too much insulin, causing blood sugar levels to drop dangerously low. Insulin is the hormone that lowers blood sugar, so when too much is made — even when blood sugar is already low — the body cannot keep glucose at a safe level. The brain and other organs depend heavily on glucose for energy, so repeated or prolonged low blood sugar can cause serious harm, especially in babies and young children. The most common symptom

Are there clinical trials for Hyperinsulinemic hypoglycaemia?

Yes — 5 recruiting clinical trials are currently listed for Hyperinsulinemic hypoglycaemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Hyperinsulinemic hypoglycaemia?

25 specialists and care centers treating Hyperinsulinemic hypoglycaemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.