Urinary and Sexual Symptoms in Patients With Hirschsprung Disease
ConditionHirschsprung Disease
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age7-25
SponsorUniversity Hospital, Grenoble
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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).
Trial 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.
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Type of pull-through procedure performed as part of routine clinical care (Swenson, Duhamel, or Soave).
Procedure/SurgerySwenson, 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.
Treatment groups
556 Participants
are divided into 1 treatment groupGroup A: 1 groupe unique1 intervention
Trial outcomes
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.
Time frame
Day 1Secondary outcomes
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 1.2
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 1.3
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 14
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 1Sponsors and contacts
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University Hospital, Grenoble
Lead sponsor
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
Source ClinicalTrials.gov
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