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

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

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.

Study Overview

• Status: Completed
• Conditions: Spina Bifida
• Intervention / Treatment: Procedure: Colonic biopsies during endoscopy

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.

• Study Type: Interventional
• Enrollment (Actual): 36
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Rennes, France
    • Rennes University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Enteric nervous system dysfunction; colonic biopsies and usual care	Procedure: Colonic biopsies during endoscopy; eligible patients will have physical examination, colonic biopsies during endoscopy and anal manometry with barostat. these investigations are part of the usual healthcare. Colonic biopsies will be used to study intestinal permeability, colonic inflammation and enteric nervous system.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
number of enteric neurons per ganglia	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	data collected at the day of endoscopy

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
anorectal symptoms		data collected at the day of endoscopy
Rectal compliance	Rectal compliance is defined by a volume variation during ascending pressure (phasic distension). It will be performed with a bag connected to electronic barostat.	data collected at the day of endoscopy
Likert scale	Sensation intensity will be measured at each pressure step, by using 6-point Likert scale ranging from 0 (no sensation) to 6 (intolerable pain)	data collected at the day of endoscopy
macroscopic and microscopic colonic inflammation		data collected at the day of endoscopy
intestinal permeability marker	Intestinal permeability will be measured using Ussing chamber.	data collected at the day of endoscopy
number of glia cells per ganglia		data collected at the day of endoscopy

Collaborators and Investigators

• Sponsor: Rennes University Hospital
• Investigators: Principal Investigator: Charlène Brochard, Md, Rennes University Hospital

Publications and helpful links

General Publications

• Brochard C, Bouguen G, Olivier R, Durand T, Henno S, Peyronnet B, Pagenault M, Lefevre C, Boudry G, Croyal M, Fautrel A, Esvan M, Ropert A, Dariel A, Siproudhis L, Neunlist M. Altered epithelial barrier functions in the colon of patients with spina bifida. Sci Rep. 2022 May 3;12(1):7196. doi: 10.1038/s41598-022-11289-3.

Study record dates

Study Major Dates

• Study Start (Actual): June 15, 2015
• Primary Completion (Actual): May 22, 2017
• Study Completion (Actual): May 22, 2017

Study Registration Dates

• First Submitted: April 28, 2015
• First Submitted That Met QC Criteria: May 11, 2015
• First Posted (Estimated): May 12, 2015

Study Record Updates

• Last Update Posted (Actual): March 30, 2026
• Last Update Submitted That Met QC Criteria: March 27, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: spina bifida; physiology; enteric nervous system; anorectal disorder; barostat anorectal
• Additional Relevant MeSH Terms: Nervous System Diseases; Intestinal Diseases; Digestive System Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Nervous System Malformations; Neural Tube Defects; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Spinal Dysraphism; Rectal Diseases
• Other Study ID Numbers: 2015-A00082-47; 35RC15_8926 (Other Identifier: CHU Rennes)