Baby Detect : Genomic Newborn Screening
NCT05687474
3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Liège, Wallonia, Belgium
View Trial DetailsNCT Number: NCT01914003
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.
Looking for future studies?
Notify MeUp to 18 year
All sexes
Observational
Children's Hospital Los Angeles, Los Angeles, California, United States
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Exclusion criteria
Time frame: 1 year
Prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.
QOL Medical, LLC
Industry
A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test in Children With Chronic Diarrhea or Chronic Abdominal Pain
Acronym: CSID GPS
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
Published trials that share one or more normalized conditions with this study.
NCT05687474
3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Liège, Wallonia, Belgium
View Trial DetailsNCT05688826
Colonic Diseases, Colonic Diseases, Functional
Malmö, Sweden
View Trial DetailsNCT05375656
Behavior, Diabetes Mellitus
Maniitsoq, Greenland
View Trial DetailsNCT05045495
Congenital Sucrase-Isomaltase Deficiency, Sucrase-isomaltase deficiency, congenital
Culver City, California, United States
View Trial Details