Clinical trial NCT01523288: The Intestinal Function in People With Prader-Willi Syndrome
Official title: The Intestinal Function in People With Prader-Willi Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Prader-Willi Syndrome
Constipation
Incontinence
Lead sponsor: Aarhus University Hospital
Sponsor class: OTHER
First posted: 2012-02-01
Enrollment: 21
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Prader-Willi Syndrome

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Colonic Transit time
timeFrame: 6 days
measure: Rectal diameter
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Aarhus
country: Denmark
facility: Centre of Rare Diseases, Pediatric department, Aarhus University Hospital Skejby
state: Aarhus N
Study officials:
affiliation: Centre of Rare Diseases, Pediatrics department, Aarhus University Hospital Skejby
name: Louise K Frandsen, Stud.med
role: PRINCIPAL_INVESTIGATOR
affiliation: Centre for Rare Diseases, Pediatrics department, Aarhus University Hospital Skejby
name: Stense Farholt, Ph.D
role: STUDY_CHAIR
affiliation: Medical Hepato-gastroenterological department, Aarhus University Hospital, Aarhus Sygehus
name: Klaus Krogh, DMSc
role: STUDY_CHAIR
affiliation: Pediatrics department, Aarhus University Hospital Skejby
name: Iben M Jønsson, Ph.D
role: STUDY_CHAIR
affiliation: Department of Radiology, Aalborg Hospital
name: Jens B Froekjaer, PhD
role: STUDY_CHAIR
References: