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Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function (ANOSPIN)

Not Applicable
Conditions
Spina Bifida
Interventions
Procedure: Colonic biopsies during endoscopy
Registration Number
NCT02440984
Lead Sponsor
Rennes University Hospital
Brief Summary

The purpose of this study is to assess and explain (at least apart) anorectal disorders of patients with Spina Bifida by an automatic neuropathy responsive of enteric nervous system and epithelial barrier dysfunctions. The investigators' aim hypothetics is that autonomic neuropathy of patients with Spina Bifida induce enteric nervous sytem and epithelial barrier dysfunctions which explain anorectal disorders of these patients. Thexpect to show a decreased of 5% of enteric neurons per ganglia.

Detailed Description

Spina Bifida is rare disease related to a failure of the closure of neural tube during the embryonic period. This malformation results in a variety of clinical disorders (neurologic, urologic, orthopedic, anorectal), depending on the level of the spinal cord lesion. Anorectal functional disorders remain underestimated and unknown from a pathophysiological point of view with subsequent uncodified therapeutic strategy.

Patients with Spina Bifida always present autonomic neuropathy that contributes partially to the anorectal disorders. These disorders may be related to a closed relationship between autonomic and enteric nervous system. Both nervous systems play a key role in anorectal disorders during others neurological disaeses have a common and simultaneous development from neural crest and induce colonic epithelial changes related to the closed connection between epithelial barrier and enteric nervous system. All of this remains hypothetic because no data regarding the impairment of enteric nervous system and epithelial barrier are available and no study are ongoing on this topic.

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
50
Inclusion Criteria
  • patient aged between 18 and 65 years old
  • patient who consulted to the national Spina Bifida Center for multidisciplinary assessment or for a proctology/urologic clinic
  • need of colonic biopsies during endoscopy
  • free, written and informed consent
Exclusion Criteria
  • pregnancy or breastfeeding
  • protected adults (judicial protection, guardianship and truesteeship) and persons deprived of liberty
  • patient unable to giving their consent
  • anticoagulants therapy or coagulation disorders

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Enteric nervous system dysfunctionColonic biopsies during endoscopycolonic biopsies and usual care
Primary Outcome Measures
NameTimeMethod
number of enteric neurons per gangliadata collected at the day of endoscopy

all data will be collected in the Spina Bifida database for further analyses. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system

Secondary Outcome Measures
NameTimeMethod
macroscopic and microscopic colonic inflammationdata collected at the day of endoscopy
number of glia cells per gangliadata collected at the day of endoscopy
Rectal compliancedata collected at the day of endoscopy

Rectal compliance is defined by a volume variation during ascending pressure (phasic distension). It will be performed with a bag connected to electronic barostat.

intestinal permeability markerdata collected at the day of endoscopy

Intestinal permeability will be measured using Ussing chamber.

anorectal symptomsdata collected at the day of endoscopy
Likert scaledata collected at the day of endoscopy

Sensation intensity will be measured at each pressure step, by using 6-point Likert scale ranging from 0 (no sensation) to 6 (intolerable pain)

Trial Locations

Locations (1)

Rennes University Hospital

🇫🇷

Rennes, France

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