When it comes to making discoveries in rare diseases, the more patients and researchers involved, the better the chances of finding breakthroughs. That is certainly true for congenital hyperinsulinism (HI), a genetic condition that causes drastically and dangerously low blood glucose levels. HI affects about 1 in 25,000 to 50,000 babies.
HI comes in multiple genetic variations, presents with a variety of symptoms with differing severity and is treated differently depending on the type of HI, making it tricky to find answers.
The Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia (CHOP), which cares for more patients with HI than any other facility in the world, has long recognized this dilemma and is proud to be an active part of the Collaborative Research Network (CRN), an arm of Congenital Hyperinsulinism International (CHI). CHI is a nonprofit, started by an international group of parents of children with HI including the mother of a CHOP patient, dedicated to improving the diagnosis, treatment and lives of children and adults worldwide living with HI.
Diva D. De León-Crutchlow, MD, MSCE, Chief of CHOP’s Division of Endocrinology and Diabetes and Director of the HI Center, is the CRN’s lead researcher. She is one of a large network of physicians and scientists from around the world who partner with patient and patient/caregiver advocates to set the CRN research agenda.
Global Registry of HI patients
One key component of the CRN is the HI Global Registry (HIGR), which has more than 500 enrollees who have provided information about their diagnosis, treatment and current health and disease management status. De-identified data from the registry helps inform research and treatment. The HIGR is governed by its own steering committee, a group of internationally recognized HI patient advocates and experts.
The registry questionnaires are offered in seven languages and have drawn participants from 57 different countries. Patients and caregivers can also ask their doctor to answer questions as part of the registry to give more technical information about their patients.
“The Global HI Registry is a tremendous resource to help advance our understanding of the natural history of HI and for promoting much needed research,” says De León-Crutchlow. “CHI has made every effort for facilitating the participation of patients and families from diverse backgrounds and has recently launched the registry in additional languages to give a voice to patients from all over the world.”
If your family isn’t part of the registry yet, you can join it here.
Research and more
Researchers in the CRN collaborated to create the first set of international consensus treatment guidelines for HI. Dr. De León was the lead author of the 2023 article in the journal Hormone Research in Paedetrics that outlined the guidance for diagnosis and treatment.
The aim is to share information across the global medical community so hyperinsulinism is on physicians’ list of possible diagnoses when a patient has persistent hypoglycemia (low blood sugar) and that they know how to treat it safely. Another push is to include glucose levels as a vital sign at birth, so hypoglycemia in newborns will be quickly recognized and treated in an effort to prevent seizures, brain damage and lifelong disabilities.
Through its own fundraising and successful grant applications — including receiving one of 30 Chan Zuckerburg Initiative Rare as One (RAO) Network grants — the CRN also supports a variety of research efforts.
For example, CHOP HI Center’s Elizabeth Rosenfeld, MD, received a grant to study the natural history of the hyperinsulinism hyperammonemia (HI/HA) syndrome using information from HI centers worldwide and data from the HI Global Registry.
The CRN also raises awareness of clinical trials that are research studies exploring medications and other treatments for HI that are active in hospitals across the United States and elsewhere.
“CHI CRN members are among the most committed, knowledgeable and compassionate people I know, and the collaboration taking place is truly stunning,” says Julie Raskin, CHI founder and Chief Executive Officer whose son, Ben, is a CHOP HI patient. “CHI continues to invest in the CRN infrastructure because it is the only way forward for medical breakthroughs for people with congenital hyperinsulinism.”
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When it comes to making discoveries in rare diseases, the more patients and researchers involved, the better the chances of finding breakthroughs. That is certainly true for congenital hyperinsulinism (HI), a genetic condition that causes drastically and dangerously low blood glucose levels. HI affects about 1 in 25,000 to 50,000 babies.
HI comes in multiple genetic variations, presents with a variety of symptoms with differing severity and is treated differently depending on the type of HI, making it tricky to find answers.
The Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia (CHOP), which cares for more patients with HI than any other facility in the world, has long recognized this dilemma and is proud to be an active part of the Collaborative Research Network (CRN), an arm of Congenital Hyperinsulinism International (CHI). CHI is a nonprofit, started by an international group of parents of children with HI including the mother of a CHOP patient, dedicated to improving the diagnosis, treatment and lives of children and adults worldwide living with HI.
Diva D. De León-Crutchlow, MD, MSCE, Chief of CHOP’s Division of Endocrinology and Diabetes and Director of the HI Center, is the CRN’s lead researcher. She is one of a large network of physicians and scientists from around the world who partner with patient and patient/caregiver advocates to set the CRN research agenda.
Global Registry of HI patients
One key component of the CRN is the HI Global Registry (HIGR), which has more than 500 enrollees who have provided information about their diagnosis, treatment and current health and disease management status. De-identified data from the registry helps inform research and treatment. The HIGR is governed by its own steering committee, a group of internationally recognized HI patient advocates and experts.
The registry questionnaires are offered in seven languages and have drawn participants from 57 different countries. Patients and caregivers can also ask their doctor to answer questions as part of the registry to give more technical information about their patients.
“The Global HI Registry is a tremendous resource to help advance our understanding of the natural history of HI and for promoting much needed research,” says De León-Crutchlow. “CHI has made every effort for facilitating the participation of patients and families from diverse backgrounds and has recently launched the registry in additional languages to give a voice to patients from all over the world.”
If your family isn’t part of the registry yet, you can join it here.
Research and more
Researchers in the CRN collaborated to create the first set of international consensus treatment guidelines for HI. Dr. De León was the lead author of the 2023 article in the journal Hormone Research in Paedetrics that outlined the guidance for diagnosis and treatment.
The aim is to share information across the global medical community so hyperinsulinism is on physicians’ list of possible diagnoses when a patient has persistent hypoglycemia (low blood sugar) and that they know how to treat it safely. Another push is to include glucose levels as a vital sign at birth, so hypoglycemia in newborns will be quickly recognized and treated in an effort to prevent seizures, brain damage and lifelong disabilities.
Through its own fundraising and successful grant applications — including receiving one of 30 Chan Zuckerburg Initiative Rare as One (RAO) Network grants — the CRN also supports a variety of research efforts.
For example, CHOP HI Center’s Elizabeth Rosenfeld, MD, received a grant to study the natural history of the hyperinsulinism hyperammonemia (HI/HA) syndrome using information from HI centers worldwide and data from the HI Global Registry.
The CRN also raises awareness of clinical trials that are research studies exploring medications and other treatments for HI that are active in hospitals across the United States and elsewhere.
“CHI CRN members are among the most committed, knowledgeable and compassionate people I know, and the collaboration taking place is truly stunning,” says Julie Raskin, CHI founder and Chief Executive Officer whose son, Ben, is a CHOP HI patient. “CHI continues to invest in the CRN infrastructure because it is the only way forward for medical breakthroughs for people with congenital hyperinsulinism.”
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