Clinical trial NCT02440984: Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function (ANOSPIN)
Official title: Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Spina Bifida
Keywords: enteric nervous system
anorectal disorder
barostat anorectal
physiology
spina bifida
Lead sponsor: Rennes University Hospital
Sponsor class: OTHER
First posted: 2015-05-12
Enrollment: 50
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.

Eligibility criteria: 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

Primary outcomes:
measure: number of enteric neurons per ganglia
timeFrame: data collected at the day of endoscopy
Secondary outcomes:
measure: anorectal symptoms
timeFrame: data collected at the day of endoscopy
measure: Rectal compliance
timeFrame: data collected at the day of endoscopy
measure: Likert scale
timeFrame: data collected at the day of endoscopy
measure: macroscopic and microscopic colonic inflammation
timeFrame: data collected at the day of endoscopy
measure: intestinal permeability marker
timeFrame: data collected at the day of endoscopy
measure: number of glia cells per ganglia
timeFrame: data collected at the day of endoscopy
Other outcomes:
Locations:
city: Rennes
country: France
facility: Rennes University Hospital
Study officials:
affiliation: Rennes University Hospital
name: Charlène Brochard, Md
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.