Investigating the role of HNF1A in diabetes and beta cell function

HNF1A in human endocrine cell development and function

['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-10646185

This study is looking at how changes in the HNF1A gene affect the insulin-producing cells in your body, which are important for keeping your blood sugar in check, and it's designed for people with diabetes caused by specific gene mutations.

Quick facts

Phase['FUNDING_R01']
Study typeNih_funding
SexAll
SponsorCHILDREN'S HOSP OF PHILADELPHIA (nih funded)
Locations1 site (PHILADELPHIA, UNITED STATES)
Trial IDNIH-10646185 on ClinicalTrials.gov

What this research studies

This research focuses on understanding how the HNF1A gene affects the development and function of insulin-secreting beta cells, which are crucial for regulating blood sugar levels. By using human pluripotent stem cells, researchers will create models to study the impact of HNF1A mutations on diabetes, particularly monogenic forms. The study employs advanced techniques like CRISPR-Cas9 genome editing to generate specific mutations and analyze their effects on beta cell behavior. This approach aims to provide insights into the mechanisms of diabetes and potential therapeutic targets.

Who could benefit from this research

Good fit: Ideal candidates for this research include individuals with monogenic diabetes linked to HNF1A mutations, as well as those with type I and type II diabetes.

Not a fit: Patients without any form of diabetes or those whose diabetes is not related to HNF1A mutations may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to improved understanding and treatment options for various forms of diabetes.

How similar studies have performed: Previous research has shown promising results in using human stem cell models to study diabetes, indicating that this approach has potential for success.

Where this research is happening

PHILADELPHIA, UNITED STATES

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.

View on NIH RePORTER →

Conditions: Autoimmune Diseases, autoimmune disorder, autoimmunity disease

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.