Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)

Summary

Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain. Children with chronic, idiopathic diarrhea or abdominal pain will have their sucrose-isomaltase gene assessed for a panel of known CSID mutations to determine the prevalence of these mutations in an enriched population and also determine functional deficiency using a breath test.

Conditions

• Congenital Sucrase-isomaltase Deficiency (CSID)

Sponsors & Collaborators

• Arnold Palmer Hospital for Children

  collaborator OTHER

• Baylor College of Medicine

  collaborator OTHER

• Nationwide Children's Hospital

  collaborator OTHER

• Ann & Robert H Lurie Children's Hospital of Chicago

  collaborator OTHER

• University of Mississippi Medical Center

  collaborator OTHER

• Children's Hospital and Research Center at Oakland

  collaborator UNKNOWN

• Columbia University

  collaborator OTHER

• Children's Hospital Los Angeles

  collaborator OTHER

• Children's Hospital and Health System Foundation, Wisconsin

  collaborator OTHER

• Children's Center for Digestive Healthcare, LLC

  collaborator UNKNOWN

• Massachusetts General Hospital

  collaborator OTHER

• Duke University

  collaborator OTHER

• Johns Hopkins University

  collaborator OTHER

• Children's Hospital of Philadelphia

  collaborator OTHER

• Children's Mercy Hospital Kansas City

  collaborator OTHER

• Children's Hospital Colorado

  collaborator OTHER

• Riley Children's Hospital

  collaborator UNKNOWN

• Primary Children's Hospital

  collaborator OTHER

• State University of New York - Downstate Medical Center

  collaborator OTHER

• QOL Medical, LLC

  lead INDUSTRY

Eligibility

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2013-05-31

Primary Completion

2015-05-31

Completion

2015-07-31

Countries

• United States

Study Locations