An observational study in Hirschsprung Disease, sponsored by University Hospital, Grenoble. Not yet recruiting at 5 sites in France. Open to participants aged 7 Years to 25 Years. Per ClinicalTrials.gov, last updated 2026-08-03.
Sponsored by University Hospital, Grenoble · Observational
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.
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
B. 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 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.
63 studies on the registry are indexed under Hirschsprung Disease; 24 are open to participants now.
This study's planned enrollment of 556 is above the median of 300 across 31 observational studies indexed under Hirschsprung Disease.
Browse Hirschsprung Disease studies →University Hospital, Grenoble is the lead sponsor of 837 studies on the registry; 207 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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).
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.
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.
Time frame: Day 1
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.
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.
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.
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..
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.
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
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.
Time frame: 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.
Time frame: 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.
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)
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.
Time frame: 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.
Time frame: 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.
Time frame: Day 1
Plan to share: No
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