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The Intestinal Function in People With Prader-Willi Syndrome

This study has been completed.
Information provided by (Responsible Party):
Louise Kuhlmann Frandsen, Aarhus University Hospital Identifier:
First received: January 30, 2012
Last updated: January 31, 2012
Last verified: January 2012
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

Prader-Willi Syndrome

Study Type: Observational
Study Design: Observational Model: Case Control
Official Title: The Intestinal Function in People With Prader-Willi Syndrome

Resource links provided by NLM:

Further study details as provided by Aarhus University Hospital:

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

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

Enrollment: 21
Study Start Date: February 2011
Study Completion Date: January 2012
Primary Completion Date: January 2012 (Final data collection date for primary outcome measure)
Prader-Willi patients
Control group
Control group for ultrasound scan

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.


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
  Contacts and Locations
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Please refer to this study by its identifier: 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, 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
  More Information

Responsible Party: Louise Kuhlmann Frandsen, Principal Investigator, Aarhus University Hospital Identifier: NCT01523288     History of Changes
Other Study ID Numbers: PWS-1051
Study First Received: January 30, 2012
Last Updated: January 31, 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 processed this record on May 25, 2017