Hirschsprung DiseaseUroSexHNCT07742436
Urinary and Sexual Symptoms in Patients With Hirschsprung Disease
An observational study of Hirschsprung Disease, run by University Hospital, Grenoble at 5 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 7 to 25 years
- Conditions the study is for
- Hirschsprung Disease
- What is being tested?
- Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).
- Type of treatment
- Surgery or procedure
- How many people
- 556 participants
- Where
- 5 sitesFrance
- Study dates
- Aug 2026to Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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.
- Aged 7 to 25 years at the time of study inclusion.
- 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.
Who cannot join
- 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).
- Deceased before study inclusion.
- 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.
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Pierre-Yves RABATTU, PH CHUGA contact
5 sites in 1 country
France5 sites
Chu Clermont Ferrand
Clermont-Ferrand
Chu Grenoble Alpes
Grenoble, 38000
Hfme Lyon
Lyon
APHM
Marseille
Chu Saint Etienne
Saint-Etienne
About this study
Official title: Medium- and Long-Term Urinary and Sexual Outcomes in Patients Who Underwent Surgery for Hirschsprung Disease in the Auvergne-Rhône-Alpes Region and at Marseille University Hospital Between 2000 and 2018
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.
Read more
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.
Read the detailed description
- Study Design This research is a Category 3 human research study (non-interventional research involving human participants). It is a multicenter, prospective, observational, and descriptive study combining a retrospective review of clinical and surgical data extracted from medical records with a prospective collection of patient-reported outcomes using standardized self-administered questionnaires. No additional procedures, examinations, or study visits are required. All clinical and surgical data are obtained from routine medical records, while the only study-specific procedure consists of completing online questionnaires. Eligible patients are identified from the databases of the five participating university hospitals (Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, and Marseille) using procedural codes for pull-through surgery (French CCAM codes including HJFA001, HJFA002, HJFA004, HJFA005, HJFA007, HJFA011, HJFA017, and HJFC031) together with the diagnosis code for Hirschsprung disease (ICD-10: Q43.1). Electronic medical records are subsequently reviewed to confirm eligibility based on histopathological findings, operative reports, and the absence of syndromic forms, total colonic aganglionosis, or small-bowel aganglionosis.
- Study Procedures The participant pathway consists of the following steps: An initial telephone call from the local investigator to provide oral information about the study (up to three contact attempts). For participants who provide oral agreement, an email containing the participant information sheet, a non-opposition form, and secure links to age- and sex-specific online questionnaires. Completion of the questionnaires through the secure REDCap platform during a clinically stable period, outside any acute episode that could influence symptom reporting. Up to three reminder emails sent at one-week intervals, followed by one additional telephone reminder after one month if no response has been received. Study inclusion is considered complete upon receipt of the completed questionnaires. No longitudinal follow-up is planned after this single assessment. No in-person study visits are scheduled.
- Data Collection Two complementary data sources are used: A- Retrospective data extracted from medical records: Demographic characteristics (sex, date of birth, weight, height) Surgical technique (Swenson, Duhamel, or Soave procedure) Surgical approach (open surgery, laparoscopic surgery, or transanal approach) Length of aganglionosis based on histopathological examination Date of surgery Other clinically relevant perioperative data
- Prospectively collected patient-reported outcomes: Questionnaire responses are automatically transferred into the REDCap electronic case report form (eCRF) without manual transcription and include: ICIQ questionnaires (urinary symptoms) IIEF-5 or FSFI questionnaires (sexual function) PedsQL 4.0 (health-related quality of life) Bowel Function Score (Rintala score) (bowel function)
- Data Management and Quality Assurance Data quality is ensured through manual verification, automated validation checks within the REDCap eCRF, and a final review before database lock. The database will be locked after complete validation by the Principal Investigator (Dr. Pierre-Yves Rabattu) and subsequently approved by the study sponsor. Each participating center designates a single local investigator responsible for data entry, identification of eligible patients, family contact, questionnaire distribution, and extraction of clinical data from medical records. Clinical data are entered into the eCRF using single data entry with source verification. Questionnaire responses are automatically imported into the database, eliminating transcription errors. Source documents include patients' medical records (operative reports, hospitalization records, consultation notes, complementary investigations, and medical correspondence) together with the original electronic questionnaire responses collected through REDCap, which constitute the source data for patient-reported outcomes. A local study coordinator is designated at each participating center to oversee study conduct. A centralized tracking log records questionnaire distribution, reminders, and responses for each participant. The eCRF is managed and monitored by the study coordinator (Amandine Juge). Reasons for study discontinuation (withdrawal of non-opposition, failure to meet eligibility criteria, or non-response despite reminders) are systematically documented in the eCRF, together with the date and reason. Individual participants will not be replaced; however, additional eligible participants may be recruited if necessary to achieve the target sample size.
- Sample Size The sample size calculation is based on the primary descriptive objective of estimating the prevalence of urinary symptoms. Assuming a prevalence of 10%, consistent with published estimates ranging from 7% to 25%, a precision of ±5%, and a two-sided 95% confidence interval, 556 evaluable participants are required. The source population is estimated at approximately 720 patients who underwent surgery between 2000 and 2018 across the five participating centers. Assuming an 80% response rate (20% expected non-response), the required sample size is expected to be achieved.
- Missing Data Participants who do not return the questionnaires despite the planned reminders will be considered non-responders rather than withdrawals. The primary analysis will be conducted as a complete-case analysis, including only participants who completed the questionnaires.
- Statistical Analysis
Statistical analyses will be performed once, at the end of the study, after all questionnaires have been received. No interim analyses are planned.
Continuous variables will be summarized using means and standard deviations or medians and interquartile ranges, depending on data distribution. Categorical variables will be presented as frequencies and percentages.
The primary outcome, the overall ICIQ score (age- and sex-specific version), will be analyzed as a continuous variable.
Overall descriptive analyses will be complemented by subgroup analyses according to surgical technique (Swenson, Duhamel, or Soave), with adjustment for the length of aganglionosis determined from histopathological findings.
Comparisons of continuous variables will be performed using the Student's t-test or the Mann-Whitney U test, depending on distribution. Comparisons of categorical variables will use the Chi-square test or Fisher's exact test, as appropriate. Multivariable analyses (linear or logistic regression models) may be conducted where appropriate after verification of statistical assumptions.
Statistical significance will be defined as a two-sided p-value < 0.05. Where multiple comparisons are performed, Bonferroni or Holm corrections may be applied.
A participant flow diagram will describe all patients who underwent surgery between 2000 and 2018, exclusions (total colonic aganglionosis, small-bowel aganglionosis, syndromic forms), the telephone contact and reminder process, and the final number of participants included in the analyses.
All statistical analyses will be performed at Grenoble Alpes University Hospital by Amandine Juge, with methodological review by Dr. Alexandre Bellier, using R and/or SPSS or Stata software.
- Conditions
- Hirschsprung Disease
- Being tested
- Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).
- Keywords
- Hirschsprung Disease, Lower Urinary Tract Symptoms, Sexual Dysfunction, Quality of Life, Pediatric Surgery, Long-Term Outcome, Multicenter Study, Bowel Function
- Medical subject headings
- Hirschsprung Disease, Lower Urinary Tract Symptoms, Sexual Dysfunction, Physiological
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).Procedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Procedure: Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave). |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Erectile Function
Erectile function will be assessed using the validated French version of the International Index of Erectile Function-5 (IIEF-5).
Population: Sexually active males aged 16-25 years.
Administration: Self-administered questionnaire.
Number of items: 5.
Completion time: Approximately 2-3 minutes.
Recall period: Previous 6 months.
Total score: 5-25.
Interpretation: Lower scores indicate more severe erectile dysfunction.
Validation: Validated French version.
Time Frame: Day 1.
Measured: Day 1.
To evaluate long-term female sexual function in female patients aged 16-25 years who underwent surgery for Hirschsprung disease during childhood.
Female Sexual Function
Female sexual function will be assessed using the validated French version of the Female Sexual Function Index (FSFI).
Population: Sexually active females aged 16-25 years.
Administration: Self-administered questionnaire.
Number of items: 19.
Completion time: Approximately 5-10 minutes.
Recall period: Previous 4 weeks.
Domains assessed: Sexual desire, arousal, lubrication, orgasm, satisfaction, and pain.
Total score: 2-36.
Interpretation: Lower scores indicate poorer sexual function.
Validation: Validated French version.
Time Frame: Day 1.
Measured: 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..
Health-Related Quality of Life
Health-related quality of life will be assessed using the validated French version of the Pediatric Quality of Life Inventory (PedsQL™ 4.0 Short Form 15).
Instrument: PedsQL™ 4.0 SF-15 (Short Form 15) Population: Participants aged 7-25 years (children, adolescents, and young adults) Administration: Self-administered questionnaire Versions: Age-specific versions (5-7, 8-12, 13-18, and 18-25 years) Number of items: 15 Completion time: Approximately 5 minutes Interpretation: Higher scores indicate better health-related quality of life. Validation: Validated French version.
Measured: Day 1
To evaluate medium- and long-term bowel function in patients aged 8-26 years who underwent surgery for Hirschsprung disease during childhood
Bowel Function
Bowel function will be assessed using the Bowel Function Score (BFS, Rintala Score).
Population: Children, adolescents, and young adults. Administration: Self-administered questionnaire (parent-proxy version used according to the participant's age).
Number of items: 7. Completion time: Approximately 3-5 minutes. Recall period: Previous weeks. Scoring: Each item is scored from 0 to 3 (one item scored from 1 to 2), yielding a total score ranging from 0 to 20.
Interpretation:
18-20: Normal bowel function. 12-17: Moderate bowel dysfunction.
≤11: Severe bowel dysfunction. Validation: No officially validated French version is available; a French translation was developed for this study.
The BFS is primarily used in children and adolescents and will be extended to young adults in the present study.
Measured: Day 1
Lower urinary tract symptoms assessed using age- and sex-appropriate International Consultation on Incontinence Questionnaire (ICIQ) according to surgical technique
Comparison of lower urinary tract symptoms according to surgical technique using the age- and sex-appropriate International Consultation on Incontinence Questionnaire (ICIQ). The outcome measure is the total score of the corresponding questionnaire (ICIQ-CLUTS for participants <18 years, ICIQ-FLUTS for adult women, and ICIQ-MLUTS for adult men). Higher scores indicate more severe lower urinary tract symptoms.
Measured: Day 1
Bowel Function Score (BFS) according to surgical technique (Swenson, Soave, or Duhamel pull-through procedure)
Comparison of bowel function according to surgical technique using the Bowel Function Score (BFS, Rintala Score). Total score ranges from 0 to 20, with higher scores indicating better bowel function.
Measured: Day 1
Pediatric Quality of Life Inventory Version 4.0 Short Form 15 (PedsQL™ 4.0 SF15) total score according to surgical technique (Swenson, Soave, or Duhamel pull-through procedure)
Comparison of health-related quality of life according to surgical technique using the Pediatric Quality of Life Inventory Version 4.0 Short Form 15 (PedsQL™ 4.0 SF15). Total score ranges from 0 to 100, with higher scores indicating better health-related quality of life.
Measured: Day 1
International Index of Erectile Function-5 (IIEF-5) total score according to surgical technique
Comparison of erectile function according to surgical technique in sexually active male participants using the International Index of Erectile Function-5 (IIEF-5). Total score ranges from 5 to 25, with higher scores indicating better erectile function.
Measured: Day 1
Female Sexual Function Index (FSFI) total score according to surgical technique
Comparison of female sexual function according to surgical technique in sexually active female participants using the Female Sexual Function Index (FSFI). Total score ranges from 2 to 36, with higher scores indicating better sexual function.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2026
- Study startAug 2026 (estimated)
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Hirschsprung DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, GrenobleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 556 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Collaborators
- Centre Hospitalier Universitaire de Saint Etienne, Assistance Publique Hopitaux De Marseille, Hospices Civils de Lyon, CHU Gabriel Montpied, Clermont Ferrand, FRANCE
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07742436
- Sponsor's protocol ID
- IDRCB: 2026-A00942-49
- Acronym
- UroSexH
- Status last verified
- Jul 2026
- First submitted
- 16 Jul 2026
- Last updated
- 3 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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
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
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Medium- and Long-Term Urinary and Sexual Outcomes in Patients Who Underwent Surgery for Hirschsprung Disease in the Auvergne-Rhône-Alpes Region and at Marseille University Hospital Between 2000 and 2018
- ClinicalTrials.gov ID
- NCT07742436
- Acronym / sponsor ID
- UroSexH / IDRCB: 2026-A00942-49
- Conditions
- Hirschsprung Disease
- Keywords
- Hirschsprung Disease, Lower Urinary Tract Symptoms, Sexual Dysfunction, Quality of Life, Pediatric Surgery, Long-Term Outcome, Multicenter Study, Bowel Function
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 556 participants (estimated)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Collaborators
- Centre Hospitalier Universitaire de Saint Etienne, Assistance Publique Hopitaux De Marseille, Hospices Civils de Lyon, CHU Gabriel Montpied, Clermont Ferrand, FRANCE
- Study start
- Aug 2026 (estimated)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 3 Aug 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
- Study Design This research is a Category 3 human research study (non-interventional research involving human participants). It is a multicenter, prospective, observational, and descriptive study combining a retrospective review of clinical and surgical data extracted from medical records with a prospective collection of patient-reported outcomes using standardized self-administered questionnaires. No additional procedures, examinations, or study visits are required. All clinical and surgical data are obtained from routine medical records, while the only study-specific procedure consists of completing online questionnaires. Eligible patients are identified from the databases of the five participating university hospitals (Grenoble, Lyon, Saint-Étienne, Clermont-Ferrand, and Marseille) using procedural codes for pull-through surgery (French CCAM codes including HJFA001, HJFA002, HJFA004, HJFA005, HJFA007, HJFA011, HJFA017, and HJFC031) together with the diagnosis code for Hirschsprung disease (ICD-10: Q43.1). Electronic medical records are subsequently reviewed to confirm eligibility based on histopathological findings, operative reports, and the absence of syndromic forms, total colonic aganglionosis, or small-bowel aganglionosis.
- Study Procedures The participant pathway consists of the following steps: An initial telephone call from the local investigator to provide oral information about the study (up to three contact attempts). For participants who provide oral agreement, an email containing the participant information sheet, a non-opposition form, and secure links to age- and sex-specific online questionnaires. Completion of the questionnaires through the secure REDCap platform during a clinically stable period, outside any acute episode that could influence symptom reporting. Up to three reminder emails sent at one-week intervals, followed by one additional telephone reminder after one month if no response has been received. Study inclusion is considered complete upon receipt of the completed questionnaires. No longitudinal follow-up is planned after this single assessment. No in-person study visits are scheduled.
- Data Collection Two complementary data sources are used: A- Retrospective data extracted from medical records: Demographic characteristics (sex, date of birth, weight, height) Surgical technique (Swenson, Duhamel, or Soave procedure) Surgical approach (open surgery, laparoscopic surgery, or transanal approach) Length of aganglionosis based on histopathological examination Date of surgery Other clinically relevant perioperative data
- Prospectively collected patient-reported outcomes: Questionnaire responses are automatically transferred into the REDCap electronic case report form (eCRF) without manual transcription and include: ICIQ questionnaires (urinary symptoms) IIEF-5 or FSFI questionnaires (sexual function) PedsQL 4.0 (health-related quality of life) Bowel Function Score (Rintala score) (bowel function)
- Data Management and Quality Assurance Data quality is ensured through manual verification, automated validation checks within the REDCap eCRF, and a final review before database lock. The database will be locked after complete validation by the Principal Investigator (Dr. Pierre-Yves Rabattu) and subsequently approved by the study sponsor. Each participating center designates a single local investigator responsible for data entry, identification of eligible patients, family contact, questionnaire distribution, and extraction of clinical data from medical records. Clinical data are entered into the eCRF using single data entry with source verification. Questionnaire responses are automatically imported into the database, eliminating transcription errors. Source documents include patients' medical records (operative reports, hospitalization records, consultation notes, complementary investigations, and medical correspondence) together with the original electronic questionnaire responses collected through REDCap, which constitute the source data for patient-reported outcomes. A local study coordinator is designated at each participating center to oversee study conduct. A centralized tracking log records questionnaire distribution, reminders, and responses for each participant. The eCRF is managed and monitored by the study coordinator (Amandine Juge). Reasons for study discontinuation (withdrawal of non-opposition, failure to meet eligibility criteria, or non-response despite reminders) are systematically documented in the eCRF, together with the date and reason. Individual participants will not be replaced; however, additional eligible participants may be recruited if necessary to achieve the target sample size.
- Sample Size The sample size calculation is based on the primary descriptive objective of estimating the prevalence of urinary symptoms. Assuming a prevalence of 10%, consistent with published estimates ranging from 7% to 25%, a precision of ±5%, and a two-sided 95% confidence interval, 556 evaluable participants are required. The source population is estimated at approximately 720 patients who underwent surgery between 2000 and 2018 across the five participating centers. Assuming an 80% response rate (20% expected non-response), the required sample size is expected to be achieved.
- Missing Data Participants who do not return the questionnaires despite the planned reminders will be considered non-responders rather than withdrawals. The primary analysis will be conducted as a complete-case analysis, including only participants who completed the questionnaires.
- Statistical Analysis
Statistical analyses will be performed once, at the end of the study, after all questionnaires have been received. No interim analyses are planned.
Continuous variables will be summarized using means and standard deviations or medians and interquartile ranges, depending on data distribution. Categorical variables will be presented as frequencies and percentages.
The primary outcome, the overall ICIQ score (age- and sex-specific version), will be analyzed as a continuous variable.
Overall descriptive analyses will be complemented by subgroup analyses according to surgical technique (Swenson, Duhamel, or Soave), with adjustment for the length of aganglionosis determined from histopathological findings.
Comparisons of continuous variables will be performed using the Student's t-test or the Mann-Whitney U test, depending on distribution. Comparisons of categorical variables will use the Chi-square test or Fisher's exact test, as appropriate. Multivariable analyses (linear or logistic regression models) may be conducted where appropriate after verification of statistical assumptions.
Statistical significance will be defined as a two-sided p-value < 0.05. Where multiple comparisons are performed, Bonferroni or Holm corrections may be applied.
A participant flow diagram will describe all patients who underwent surgery between 2000 and 2018, exclusions (total colonic aganglionosis, small-bowel aganglionosis, syndromic forms), the telephone contact and reminder process, and the final number of participants included in the analyses.
All statistical analyses will be performed at Grenoble Alpes University Hospital by Amandine Juge, with methodological review by Dr. Alexandre Bellier, using R and/or SPSS or Stata software.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 groupe unique | – | Procedure: Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).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. |
Who may qualify
- Ages
- 7 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (6 listed)
- 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.
- Aged 7 to 25 years at the time of study inclusion.
- No objection to participation obtained from the participant or, for minors, from the legal representative, in accordance with French regulations.
Key exclusion criteria (7 listed)
- 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).
- Deceased before study inclusion.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).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. | Procedure or surgery | 1 groupe unique |
Primary outcome
To describe medium- and long-term urinary sequelae in patients aged 8-26 years who underwent surgery for Hirschsprung disease during early childhood.
Time frame: Day 1
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.
9 secondary outcomes
To evaluate long-term erectile function in male patients aged 16-25 years who underwent surgery for Hirschsprung disease during childhood.
Time frame: Day 1.
To evaluate long-term female sexual function in female patients aged 16-25 years who underwent surgery for Hirschsprung disease during childhood.
Time frame: 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..
Time frame: Day 1
To evaluate medium- and long-term bowel function in patients aged 8-26 years who underwent surgery for Hirschsprung disease during childhood
Time frame: Day 1
Lower urinary tract symptoms assessed using age- and sex-appropriate International Consultation on Incontinence Questionnaire (ICIQ) according to surgical technique
Time frame: Day 1
Bowel Function Score (BFS) according to surgical technique (Swenson, Soave, or Duhamel pull-through procedure)
Time frame: Day 1
Pediatric Quality of Life Inventory Version 4.0 Short Form 15 (PedsQL™ 4.0 SF15) total score according to surgical technique (Swenson, Soave, or Duhamel pull-through procedure)
Time frame: Day 1
International Index of Erectile Function-5 (IIEF-5) total score according to surgical technique
Time frame: Day 1
Female Sexual Function Index (FSFI) total score according to surgical technique
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2026.
- Background10. 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
- Background1. 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
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Pierre-Yves RABATTU, PH CHUGA contact
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hirschsprung Disease, run by University Hospital, Grenoble at 5 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 3 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amandine MIRKOVIC JUGE, interne en chirurgie (+33669523539, a.juge@icloud.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To describe medium- and long-term urinary sequelae in patients aged 8-26 years who underwent surgery for Hirschsprung disease during early childhood. (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07742436, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2026.