Urinary and Sexual Symptoms in Patients With Hirschsprung Disease

NCT07742436 | Not Yet Recruiting

• 1 other identifier: IDRCB: 2026-A00942-49
• Study Type: observational
• Target: 556
• Locations: 1 country
• Sites: 5

Brief Summary

Hirschsprung disease is a rare congenital disorder affecting the gastrointestinal tract of newborns. It is caused by the absence of enteric ganglion cells in a segment of the large intestine, preventing normal bowel function and leading to intestinal obstruction. The only effective treatment is surgical, usually performed during the first months or years of life, and consists of resecting the affected bowel segment and reconnecting the healthy intestine. Advances in surgical techniques have enabled most children with Hirschsprung disease to achieve normal growth and development. However, surgery is performed in an anatomical region containing nerves and structures that are essential for normal bladder and sexual function. Although previous studies have demonstrated that some patients continue to experience long-term bowel dysfunction after surgery, the potential long-term effects on urinary function and sexual health during childhood, adolescence, and adulthood remain insufficiently investigated. The primary objective of this study is to determine the prevalence and characteristics of long-term urinary symptoms in patients who underwent surgery for Hirschsprung disease during early childhood. Secondary objectives are to assess sexual function, overall quality of life, and long-term bowel function. In addition, the investigators aim to compare these outcomes according to the surgical technique used, as several operative approaches are currently available and none has yet been shown to be superior in preventing long-term sequelae. the investigators hypothesize that a clinically relevant proportion of patients-approximately 10%-experience persistent urinary symptoms years after surgery, despite these symptoms being infrequently assessed and rarely included in routine long-term follow-up. This study is intended for individuals aged 7 to 25 years who underwent surgery for Hirschsprung disease between 2000 and 2018 at one of the five participating university hospitals: Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, and Marseille. Eligible participants will be contacted by telephone and invited to participate. Those who provide informed consent (and assent/parental consent when applicable) will receive a secure email link to complete online questionnaires assessing urinary symptoms, sexual function (when age-appropriate), quality of life, and bowel function. These validated questionnaires have been widely used in previous studies and require approximately 15-20 minutes to complete. No study visits, medical examinations, or additional follow-up are planned as part of this research; participation consists solely of completing the questionnaires. The findings of this study will improve our understanding of the long-term urinary and sexual sequelae associated with Hirschsprung disease surgery. Ultimately, they may contribute to the development of more systematic long-term postoperative follow-up strategies, enabling earlier identification and improved management of urinary and sexual dysfunction in children as they progress through adolescence and into adulthood.

Conditions

Hirschsprung Disease

Keywords

Hirschsprung Disease; Lower Urinary Tract Symptoms; Sexual Dysfunction; Quality of Life; Pediatric Surgery; Long-Term Outcome; Multicenter Study; Bowel Function

Outcome Measures

Primary Outcomes (1)

• To describe medium- and long-term urinary sequelae in patients aged 8-26 years who underwent surgery for Hirschsprung disease during early childhood.

  Primary Outcome Measure The primary outcome is the assessment of lower urinary tract symptoms (LUTS) using age- and sex-specific International Consultation on Incontinence Questionnaire (ICIQ) instruments. The following questionnaires will be used according to the participant's age and sex: ICIQ-CLUTS for children and adolescents (\<18 years); ICIQ-FLUTS for adult women; ICIQ-MLUTS for adult men. Children and Adolescents (\<18 years) Instrument: International Consultation on Incontinence Questionnaire - Children's Lower Urinary Tract Symptoms (ICIQ-CLUTS) Population: Children and adolescents. Questionnaire versions: Parent-proxy version for children younger than 9 years. Self-administered version for children aged 9 years or older. Number of items: 12. Completion time: Approximately 4-5 minutes. Scoring: Total score: 0-24. Filling symptoms subscore: 0-12. Voiding symptoms subscore: 0-4. Urinary incontinence subscore: 0-8.

  Day 1

Secondary Outcomes (9)

• To evaluate long-term erectile function in male patients aged 16-25 years who underwent surgery for Hirschsprung disease during childhood.

  Day 1.

• To evaluate long-term female sexual function in female patients aged 16-25 years who underwent surgery for Hirschsprung disease during childhood.

  Recall period: Previous 4 weeks. Time Frame: Day 1.

• To evaluate medium- and long-term health-related quality of life in patients aged 8-25 years..

  Day 1

• To evaluate medium- and long-term bowel function in patients aged 8-26 years who underwent surgery for Hirschsprung disease during childhood

  Day 1

• Lower urinary tract symptoms assessed using age- and sex-appropriate International Consultation on Incontinence Questionnaire (ICIQ) according to surgical technique

  Day 1

Study Arms (1)

1 groupe unique

Patients aged 7 to 25 years who underwent surgery for biopsy-confirmed Hirschsprung disease between 2000 and 2018 at one of the five participating university hospitals, regardless of the surgical technique used, and who are evaluated for long-term urinary, sexual, and bowel symptoms, as well as health-related quality of life.

Procedure: Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).

Interventions

Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave). PROCEDURE

Swenson, Duhamel, or Soave pull-through procedure, retrospectively collected from the operative report. No intervention or modification of clinical management is performed as part of this study.

1 groupe unique

Eligibility Criteria

• Age: 7 Years - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Hospital-based source population consisting of patients treated in the pediatric surgery departments of five French university hospitals (Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, and Marseille) who underwent surgery for Hirschsprung disease between 2000 and 2018. Patients received their initial surgical management at specialized centers, followed by routine postoperative hospital and community-based follow-up. Eligible participants are identified through each center's administrative databases using surgical procedure and diagnostic codes, with eligibility confirmed by review of electronic medical records.

You may qualify if:

• Biopsy-confirmed Hirschsprung disease treated surgically between 2000 and 2018, regardless of the pull-through technique used.
• Surgery performed at one of the five participating university hospitals (Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, or Marseille).
• Male or female participants.
• No objection to participation obtained from the participant or, for minors, from the legal representative, in accordance with French regulations.
• Affiliation with the French national health insurance system.

You may not qualify if:

• Syndromic Hirschsprung disease (e.g., Down syndrome, Waardenburg syndrome, or Multiple Endocrine Neoplasia type 2).
• Total colonic aganglionosis.
• Small-bowel aganglionosis.
• Major congenital urogenital malformation unrelated to Hirschsprung disease (e.g., bladder exstrophy or posterior urethral valves).
• Unable to be contacted despite repeated attempts.
• Individuals not eligible for biomedical research under Articles L1121-5 to L1121-8 of the French Public Health Code.

Sponsors & Collaborators

• University Hospital, Grenoble: lead
• Centre Hospitalier Universitaire de Saint Etienne: collaborator
• Assistance Publique Hopitaux De Marseille: collaborator
• Hospices Civils de Lyon: collaborator
• CHU Gabriel Montpied, Clermont Ferrand, FRANCE: collaborator

Study Sites (5)

Chu Clermont Ferrand

Clermont-Ferrand, France

Location

Chu Grenoble Alpes

Grenoble, 38000, France

Location

Hfme Lyon

Lyon, France

Location

APHM

Marseille, France

Location

Chu Saint Etienne

Saint-Etienne, France

Location

Related Publications (2)

• 10. L. Ali, A. Bonnard. Traitement chirurgical de la maldie de Hischsprung : Technique de Swenson. In: La maladie de Hischsprung. Sauramps medical. 11. Duhamel B. A New Operation for the Treatment of Hirschsprung's Disease [Internet]. 1 févr 1960. doi:10.1136/adc.35.179.38 12. Saysoo MR, Dewi FST, Gunadi. Quality of life of patients with Hirschsprung disease after Duhamel and Soave pull-through procedures: A mixed-methods sequential explanatory cohort study. Ann Med Surg. 1 août 2020;56:34-7. doi:10.1016/j.amsu.2020.05.043 13. Soave F. A NEW SURGICAL TECHNIQUE FOR TREATMENT OF HIRSCHSPRUNG'S DISEASE. Surgery. nov 1964;56:1007-14. PubMed PMID: 14224580. 14. Hoel AT, Karlsen RA, Fosby MV, Bjørnland K. Sexual function and lower urinary tract symptoms after minimally invasive endorectal pull-through in adolescent males with Hirschsprung disease. J Pediatr Surg. mars 2023;58(3):490-5. doi:10.1016/j.jpedsurg.2022.09.017 15. Versteegh HP, Johal NS, De Blaauw I, Stanton MP. Urological and sexual outcome in patients with Hirschsprung disease: A systematic review. J Pediatr Urol. déc 2016;12(6):352-60. doi:10.1016/j.jpurol.2016.07.019 16. M. Peycelon. Troubles mictionnels associées à la maldie de Hischsprung. In: La maladie de Hischsprung. 17. ICIQ-MLUTS | ICIQ [Internet]. [cité 23 janv 2026]. Disponible sur: https://iciq.net/iciq-mluts 18. Nipa SI, Cooper D, Mostafa A, Hagen S, Abdel-Fattah M. Novel clinically meaningful scores for the ICIQ-UI-SF and ICIQ-FLUTS questionnaires in women with stress incontinence. Int Urogynecology J. déc 2023;34(12):3033-40. doi:10.1007/s00192-023-05657-4 PubMed PMID: 37819367; PubMed Central PMCID: PMC10756866. 19. ICIQ-FLUTS | ICIQ [Internet]. [cité 19 janv 2026]. Disponible sur: https://iciq.net/iciq-fluts 20. ICIQ-MLUTS | ICIQ [Internet]. [cité 19 janv 2026]. Disponible sur: https://iciq.net/iciq-mluts 21. ICIQ-FLUTS | ICIQ [Internet]. [cité 23 janv 2026]. Disponible sur: https://iciq.net/iciq-fluts 22. Abrams P, Avery K, Gardener N, Donova

  BACKGROUND

• 1. Pan S, Li W, Shi C, Tang W, Lu C. Features of defecation dysfunction among patients with Hirschsprung disease in early childhood. BMC Gastroenterol. 9 juill 2025;25(1):510. doi:10.1186/s12876-025-04106-4 2. van der Steeg HJJ, van Rooij IALM, Iacobelli BD, Sloots CEJ, Morandi A, Broens PMA, et al. Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study. J Pediatr Surg. sept 2022;57(9):89-96. doi:10.1016/j.jpedsurg.2022.02.015 PubMed PMID: 35317943. 3. Kenny SE, Tam PKH, Garcia-Barcelo M. Hirschsprung's disease. Semin Pediatr Surg. août 2010;19(3):194-200. doi:10.1053/j.sempedsurg.2010.03.004 PubMed PMID: 20610192. 4. Guirguis E. Hirschsprung's Disease: A Review. Can Fam Physician Med Fam Can. juill 1986;32:1521-3. PubMed PMID: 21267104; PubMed Central PMCID: PMC2327428. 5. Jiang R, Kelly MS, Routh JC. Assessment of Pediatric Bowel and Bladder Dysfunction: a Critical Appraisal of the Literature. J Pediatr Urol. déc 2018;14(6):494-501. doi:10.1016/j.jpurol.2018.08.010 PubMed PMID: 30297226; PubMed Central PMCID: PMC6295280. 6. Gertler J, Granström AL, Oddsberg J, Gunnarsdóttir A, Svenningsson A, Wester T, et al. Bowel function, urinary tract function, and health-related quality of life in males with anorectal malformations. Pediatr Surg Int. 27 juin 2024;40(1):164. doi:10.1007/s00383-024-05746-5 PubMed PMID: 38935149; PubMed Central PMCID: PMC11211194. 7. Avery K, Donovan J, Peters TJ, Shaw C, Gotoh M, Abrams P. ICIQ: a brief and robust measure for evaluating the symptoms and impact of urinary incontinence. Neurourol Urodyn. 2004;23(4):322-30. doi:10.1002/nau.20041 PubMed PMID: 15227649. 8. Ali L, Bonnard A. Traitement chirurgical de la maladie de Hirschsprung : Technique de Swenson. In : La maladie de Hirschsprung. Sauramps Médical ; 2015 :95-103. In. 9. Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of the sphincter

  BACKGROUND

MeSH Terms

Conditions

Hirschsprung Disease; Lower Urinary Tract Symptoms; Sexual Dysfunction, Physiological

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Megacolon; Colonic Diseases; Intestinal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Urological Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Genital Diseases; Urogenital Diseases

Central Study Contacts

Amandine MIRKOVIC JUGE, interne en chirurgie

CONTACT

+33669523539; a.juge@icloud.com

Pierre-Yves RABATTU, PH CHUGA

CONTACT

PYRabattu@chu-grenoble.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 16, 2026
• First Posted: August 3, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: August 3, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (5)