Clinical trial NCT02029248: National Study on the Quality of Life of Patients With Anorectal Malformation
Official title: National Study on the Quality of Life of Patients With Anorectal Malformation (MARQOL)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Anorectal Malformation
Keywords: Anorectal malformation
fecal incontinence
quality of life
child
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: MAREP ( Center For Rare Diseases Center Ano-Rectal And Pelvic Abnormalities)
First posted: 2014-01-07
Enrollment: 762
Sex: ALL
Minimum age (years): 6
Maximum age (years): 30
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients initially treated in a french pediatric surgery service for anorectal malformation

Brief summary: Anorectal malformations, occurring approximately 1 in 5000 live births, mainly involve the distal anus and rectum, but also sometimes the urinary and genital tracts. Defects range from the minor and easily treated with an excellent functional prognosis, to those that are complex and often associated with a poor functional prognosis.

Despite the better knowledge of the anatomy and physiology and the improvement of surgical management after birth, fecal and urinary incontinence can occur, due mainly to deficient nerve supply.

The quality of life of such patients is largely unknown in this country. The aim of the investigators study is to propose specific and generic questionnaires to the patients registered in the national database, correlated to their anatomical and functional status. A better understanding of such correlations should allow improvements in their medical and social management.

Detailed description: Anorectal malformations (ARM), occurring approximately 1 in 5000 live births, mainly involve the distal anus and rectum, but also sometimes the urinary and genital tracts. Defects range from the minor and easily treated with an excellent functional prognosis, to those that are complex and often associated with a poor functional prognosis. Despite the better knowledge of the anatomy and physiology and the improvement of surgical management after birth, fecal and urinary incontinence can occur, due mainly to deficient nerve supply. A few studies and clinical practice have shown that disease-specific problems of ARM have an effect on somatic function, mental health and psychosocial functioning.

The assessment of quality of life requires a self-report questionnaire composed of items related to physical, emotional and social functioning, and disease-related symptoms. A specific ARM questionnaire, the HAQL, was developed by a Dutch team and published in 2001. Associated with generic questionnaire, it allowed quality of life assessment in Dutch population.

The quality of life of such patients is largely unknown in this larger country. The aim of the investigators study is to propose specific (HAQL translated from Dutch to French) and generic questionnaires to the patients registered in the national database, correlated to their anatomical and functional status.

A better understanding of such correlations should allow improvements in their medical and social management.

Eligibility criteria: Inclusion Criteria:

* Patients who are between 6 and 30 years old
* Patients initially treated in a french pediatric surgery service for anorectal malformation

Exclusion Criteria:

* Patients lost from sight or dead
* Patients with concomitant malformations that can modify sphincter functions besides anorectal malformation (spina bifida, )
* Patients whose brain functions do not allow to reply to a questionnaire (mental retardation)

Primary outcomes:
measure: Quality of life measured by HAQL specific questionnaire and two generic questionnaires: VSPA for children or WHOQOL-BREF for adults; functional status measured by Krickenbeck score
timeFrame: At the time of the inclusion
Secondary outcomes:
measure: Kind of malformation, associated malformation, sequelas, handicap degree, social integration
timeFrame: At the time of the inclusion
Other outcomes:
Locations:
city: Amiens
country: France
facility: CHU Amiens
city: Angers
country: France
facility: CHU Angers
city: Besançon
country: France
facility: CHU Besançon
city: Bordeaux
country: France
facility: CHU Bordeaux
city: Brest
country: France
facility: CHU Brest
city: Bron
country: France
facility: Hospices Civils de Lyon
city: Caen
country: France
facility: CHU Caen
city: Clermont-Ferrand
country: France
facility: CHU Clermont-Ferrand
city: Colmar
country: France
facility: Hôpitaux Civils de Colmar
city: Dijon
country: France
facility: CHU Dijon
city: Fort-de-France (Martinique)
country: France
facility: CHU Fort-de-France
city: Grenoble
country: France
facility: CHU Grenoble
city: Kremlin-Bicêtre
country: France
facility: AP-HP Hôpital Bicêtre
city: Le Mans
country: France
facility: CH Le Mans
city: Lille
country: France
facility: CHRU Lille
city: Limoges
country: France
facility: CHU Limoges
city: Marseille
country: France
facility: AP-HM La Timone
city: Marseille
country: France
facility: AP-HM Hôpital Nord
city: Montpellier
country: France
facility: CHU Montpellier
city: Nantes
country: France
facility: CHU de Nantes
city: Nice
country: France
facility: CHU Nice
city: Orléans
country: France
facility: CHR Orléans
city: Paris
country: France
facility: AP-HP Hôpital Trousseau
city: Paris
country: France
facility: AP-HP Hôpital Necker
city: Paris
country: France
facility: AP-HP Hôpital Robert Debré
city: Pointe-à-Pitre (Guadeloupe)
country: France
facility: CHU Pointe-à-Pitre
city: Poitiers
country: France
facility: CHU Poitiers
city: Reims
country: France
facility: CHU Reims
city: Rennes
country: France
facility: CHU Rennes
city: Rouen
country: France
facility: CHU Rouen
city: Saint Brieuc
country: France
facility: CH Saint Brieuc
city: Saint Denis (La Réunion)
country: France
facility: CHR La Réunion
city: Saint Etienne
country: France
facility: CHU Saint Etienne
city: Strasbourg
country: France
facility: CHRU Strasbourg
city: Toulouse
country: France
facility: CHU Toulouse
city: Tours
country: France
facility: CHRU Tours
city: Vandoeuvre-les-Nancy
country: France
facility: CHU Nancy
Study officials:
affiliation: CHU d'Angers (France)
name: Guillaume Podevin, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Clermidi P, Podevin G, Cretolle C, Sarnacki S, Hardouin JB. The challenge of measuring quality of life in children with Hirschsprung's disease or anorectal malformation. J Pediatr Surg. 2013 Oct;48(10):2118-27. doi: 10.1016/j.jpedsurg.2013.03.071.
citation: Mantoo S, Meurette G, Wyart V, Hardouin J, Cretolle C, Capito C, Sarnacki S, Podevin G, Lehur PA. The impact of anorectal malformations on anorectal function and social integration in adulthood: report from a national database. Colorectal Dis. 2013 Jun;15(6):e330-5. doi: 10.1111/codi.12186.
citation: Podevin G, Petit T, Mure PY, Gelas T, Demarche M, Allal H, Becmeur F, Varlet F, Philippe P, Weil D, Heloury Y. Minimally invasive surgery for anorectal malformation in boys: a multicenter study. J Laparoendosc Adv Surg Tech A. 2009 Apr;19 Suppl 1:S233-5. doi: 10.1089/lap.2008.0137.supp.
citation: Fleury J, Picherot G, Cretolle C, Podevin G, David A, Caillon J, Roze JC, Gras-le Guen C. Currarino syndrome as an etiology of a neonatal Escherichia coli meningitis. J Perinatol. 2007 Sep;27(9):589-91. doi: 10.1038/sj.jp.7211783.