The Intestinal Function in People With Prader-Willi Syndrome

The projects aim is to investigate the intestinal function of patients suffering from Prader-Willi Syndrome. The methods used are ultrasonographic measurement of the rectal diameter and gastrointestinal transit time

Study Overview

• Status: Completed
• Conditions: Constipation; Prader-Willi Syndrome; Incontinence

Detailed Description

Prader-Willi Syndrome (PWS) is a congenital genetical disease characterized by moderate retardation, food-seeking behavior and a serious risk of developing health threatening overweight, low stature, abnormal body composition and a lack of growth- and sex-hormones. They can not live an independent life and are reliant of help from care personnel.

People with PWS react abnormally to signals from their own bodies. E.g. they have a reduced sense of pain and can have a lacking urge to urination despite a full bladder. Most of the patients also have a relatively slow pulse, which can be consistent with a dysfunction in the nervous system (the parasympathetic nervous system) which also has large significance for the bladder- and bowel function.

The Intestinal function in people with PWS is a sparse described subject, which has not been systematically examined in scientific context. We therefore want to examine whether the bowel function in people with PWS are different from the bowel function in healthy people.

The subject is elucidated by a medical examination, a questionnaire, a registration of toilet habits, a measurement of the rectal diameter by an ultrasound scan and a measurement of the colonic transit time.

The results will be compared to findings in normal healthy people. Because no normal material exists for rectal diameter measured by ultrasound, we will establish one.

The result of the project will increase our knowledge of possible bowel dysfunctions such as constipation, in people with PWS and can immediately lead to improved care for and optimized treatment of the patients.

• Study Type: Observational
• Enrollment (Actual): 21

Contacts and Locations

Study Locations

• Denmark
  • Aarhus N
    • Aarhus, Aarhus N, Denmark, 8200
      • Centre of Rare Diseases, Pediatric department, Aarhus University Hospital Skejby

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with Prader-Willi Syndrome

Description

Inclusion Criteria:

• age above 18
• >14 days since last antibiotic treatment
• >14 days since last laxative treatment
• PWS confirmed genetically

Exclusion Criteria:

• previous abdominal surgery (except appendectomy or haemorrhoidectomy
• patient not capable of understanding the information
• treatment with eltroxin or antipsychotic medication
• pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Prader-Willi patients
Control group; Control group for ultrasound scan

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Colonic Transit time	Measured ad modum Göteborg	6 days
Rectal diameter	measured by ultrasound scan	1 day

Collaborators and Investigators

• Sponsor: Aarhus University Hospital
• Investigators: Principal Investigator: Louise K Frandsen, Stud.med, Centre of Rare Diseases, Pediatrics department, Aarhus University Hospital Skejby; Study Chair: Stense Farholt, Ph.D, Centre for Rare Diseases, Pediatrics department, Aarhus University Hospital Skejby; Study Chair: Klaus Krogh, DMSc, Medical Hepato-gastroenterological department, Aarhus University Hospital, Aarhus Sygehus; Study Chair: Iben M Jønsson, Ph.D, Pediatrics department, Aarhus University Hospital Skejby; Study Chair: Jens B Froekjaer, PhD, Department of Radiology, Aalborg Hospital

Study record dates

Study Major Dates

• Study Start: February 1, 2011
• Primary Completion (Actual): January 1, 2012
• Study Completion (Actual): January 1, 2012

Study Registration Dates

• First Submitted: January 30, 2012
• First Submitted That Met QC Criteria: January 31, 2012
• First Posted (Estimate): February 1, 2012

Study Record Updates

• Last Update Posted (Estimate): February 1, 2012
• Last Update Submitted That Met QC Criteria: January 31, 2012
• Last Verified: January 1, 2012

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Signs and Symptoms, Digestive; Overnutrition; Nutrition Disorders; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Obesity; Syndrome; Constipation; Prader-Willi Syndrome
• Other Study ID Numbers: PWS-1051