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

Rennes University Hospital

Status: Unknown

Conditions: Spina Bifida

Treatments: Procedure: Colonic biopsies during endoscopy

Study type: Interventional

Funder types: Other

Identifiers

NCT02440984

2015-A00082-47

35RC15_8926 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18 to 65 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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50 participants in 1 patient group

Enteric nervous system dysfunction

Other group

Description:

colonic biopsies and usual care

Treatment:

Procedure: Colonic biopsies during endoscopy