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The Intestinal Function in People With Prader-Willi Syndrome

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ClinicalTrials.gov Identifier: NCT01523288
Recruitment Status : Completed
First Posted : February 1, 2012
Last Update Posted : February 1, 2012
Information provided by (Responsible Party):
Louise Kuhlmann Frandsen, Aarhus University Hospital

Brief Summary:
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

Condition or disease
Prader-Willi Syndrome Constipation 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
Actual Enrollment : 21 participants
Observational Model: Case Control
Official Title: The Intestinal Function in People With Prader-Willi Syndrome
Study Start Date : February 2011
Primary Completion Date : January 2012
Study Completion Date : January 2012

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Prader-Willi patients
Control group
Control group for ultrasound scan

Primary Outcome Measures :
  1. Colonic Transit time [ Time Frame: 6 days ]
    Measured ad modum Göteborg

  2. Rectal diameter [ Time Frame: 1 day ]
    measured by ultrasound scan

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients with Prader-Willi Syndrome

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01523288

Centre of Rare Diseases, Pediatric department, Aarhus University Hospital Skejby
Aarhus, Aarhus N, Denmark, 8200
Sponsors and Collaborators
Aarhus University Hospital
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

Responsible Party: Louise Kuhlmann Frandsen, Principal Investigator, Aarhus University Hospital
ClinicalTrials.gov Identifier: NCT01523288     History of Changes
Other Study ID Numbers: PWS-1051
First Posted: February 1, 2012    Key Record Dates
Last Update Posted: February 1, 2012
Last Verified: January 2012

Additional relevant MeSH terms:
Prader-Willi Syndrome
Pathologic Processes
Signs and Symptoms, Digestive
Signs and Symptoms
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Nutrition Disorders