Clinical trials: Congenital Sucrase-Isomaltase Deficiency
Irritable Bowel Syndrome, Sucrose Intolerance Due to Sucrase-Isomaltase Deficiency
Sucrase-isomaltase Deficiency as a Cause of Irritable Bowel Syndrome
Irritable bowel syndrome (IBS) is a functional disorder causing troublesome symptoms and reduced quality of life. It affects 10-20% of the population, hence creates large costs for society.
- Conditions
- Irritable Bowel Syndrome, Sucrose Intolerance Due to Sucrase-Isomaltase Deficiency, Carbohydrate; Malabsorption, Sucrase Isomaltase Deficiency
- Trial name
- NCT05159115
- Testing
- Low-FODMAP diet, Starch- and Sucrose Reduced Diet (SSRD)
- Volunteers
- 80 people
- Sponsor
- Lovisenberg Diakonale Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-onset), Pompe Disease Late-Onset
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
This is a single-arm, open-label, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of AB-1009 in adult participants with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Pompe Disease Late-Onset, LOPD
- Trial name
- NCT07282847
- Testing
- AB-1009 (GAA Gene)
- Where
- 9 sites in United States
- Volunteers
- 12 people
- Sponsor
- AskBio Inc
IBS - Irritable Bowel Syndrome, Sucrase-Isomaltase Deficiency
Sucrase-Isomaltase (SI) Genes and Meal Load
The goal of this interventional study is to examine whether those patients with irritable bowel syndrome (IBS) and a reduced abitility do degrade starch and sugar (lowe levels of enzymes) have lower raise in blood glucose after a…
- Trial name
- SI IBS (NCT07309601)
- Testing
- Meal load
- Where
- Sweden
- Volunteers
- 70 people
- Sponsor
- Region Skane
Sucrase Isomaltase Deficiency
Genetic Carbohydrate Maldigestion As Model to Study Food Hypersensitivity Mechanism (WORK PACKAGE 2)
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms that are detected without an established underlying organic cause.
- Trial name
- GenMalCarb2 (NCT06770907)
- Testing
- Blood, stool and saliva collection, Questionnaire completion, Magnetic Resonance Imaging (MRI) and Breath test
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Sucrase-Isomaltase Deficiency, Irritable Bowel Syndrome
The Effect of Sugar Load in IBS Patients Depending on Sucrase-isomaltase Genes
The investigators know that many patients with irritable bowel syndrome (IBS) have functional variants of genes coding for sucrase-isomaltase enzymes.
- Trial name
- NCT05688826
- Testing
- Sugar
- Where
- Sweden
- Volunteers
- 40 people
- Sponsor
- Region Skane
Late-Onset Pompe Disease
LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD…
- Trial name
- NCT07685314
- Where
- Spain
- Volunteers
- 477 people
- Sponsor
- Hospitales Universitarios Virgen del Rocío
Pompe Disease
Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using…
- Trial name
- NCT01665326
- Testing
- Observational
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Pompe Disease, Glycogen Storage Disease Type II
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
Pompe disease is caused by a deficiency of a critical enzyme in the body called acid alpha glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00025896
- Testing
- recombinant human acid alpha-glucosidase (rhGAA)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Congenital Sucrase-Isomaltase Deficiency, CSID
7-Day Trial of Sucraid for Alleviating CSID Symptoms in Subjects With Low, Moderate, and Normal Sucrase Levels
This is a Phase 4, U.S. only, multi-center study using a 7-day therapeutic response dose (TRD) of commercial Sucraid® to assess the response of treatment in 1100 symptomatic pediatric (6 months to 17 years old) subjects with low…
- Conditions
- Congenital Sucrase-Isomaltase Deficiency, CSID, Sucrase Isomaltase Deficiency
- Trial name
- NCT05480761
- Testing
- Sucraid (sacrosidase) Oral Solution 8500 IU/mL
- Where
- 20 sites in United States
- Volunteers
- 312 people
- Sponsor
- QOL Medical, LLC
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
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.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Irritable Bowel Syndrome (IBS), Sucrase Isomaltase Deficiency
Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity
Irritable bowel syndrome (IBS) affects one in seven people with gastrointestinal (GI) symptoms. IBS strongly impacts quality of life, is a leading cause of work absenteeism, and consumes 0.5% of the healthcare annual budget.
- Trial name
- GenMalCarb (NCT05795049)
- Testing
- Stool and saliva sample collection, Questionnaire completion
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Nottingham University Hospitals NHS Trust
Congenital Sucrase-Isomaltase Deficiency
Adult Pilot Study for Reference Ranges and Optimal Cut-offs for the Sucrose Challenge Test and Sucrose Breath Test
An adult pilot study to establish the normal reference range and optimal cutoffs for the oral 50g Sucrose Challenge Test (SCT) and the 50g 13C-Sucrose Breath Test (CBT) for patients with CSID and healthy controls.
- Trial name
- NCT05045495
- Testing
- Sucrose Hydrogen Methane Breath Test
- Where
- United States
- Volunteers
- 211 people, healthy volunteers welcome
- Sponsor
- QOL Medical, LLC
Glycogen Storage Disease Type II
A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00059280
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Diabetes Mellitus, Type 2, Metabolic Disease
The Effect on Metabolism, Food Intake and Preferences of a Knockout Gene Variant Involved in Carbohydrate Metabolism
Around 10% has type 2 diabetes in Greenland, despite being a practically unknown disease only six decades ago. The drastic increase is of great concern, especially considering the transition that have occurred during the same…
- Conditions
- Diabetes Mellitus, Type 2, Metabolic Disease, Sucrose Intolerance Congenital, Sucrase Isomaltase Deficiency
- Trial name
- NCT05375656
- Testing
- Cross-over study
- Where
- 2 sites in Greenland
- Volunteers
- 38 people
- Sponsor
- Steno Diabetes Center Copenhagen