Uronephrological Complications Risk Factors in Spinal Dysraphism (RUD)

Individualisation of Uronephrological Complications Risk Factors in Spinal Dysraphism

Spinal dysraphism consist of congenital malformations resulting of abnormalities in the formation of neural tube and/or surrounding structures during embryogenesis. The aim of this study is to assess if there are specific clinical and paraclinical patterns of pelvic (urinary, bowel, sexual) disorders depending on the dysraphism's type and level of injury.

This description will help to determine a prognosis on symptoms and the risk of complication depending on the dysraphism's type and level of injury. It will provide targeted evaluation and cares: identifying patients who will be at risk of complications and needing acute monitoring or preventing cares on the symptoms' onset.

Pelvic disorders have an important impact on morbi-mortality (urinary dysfunction is the first cause of mortality in adults by renal failure or infection) and also on patients' quality of life.

Study Overview

• Status: Recruiting
• Conditions: Spinal Dysraphism
• Intervention / Treatment: Other: Individualisation of uronephrological complications risk factors

Detailed Description

Spinal dysraphism consist of congenital malformations resulting of abnormalities in the formation of neural tube and/or surrounding structures during embryogenesis. The aim of this study is to assess if there are specific clinical and paraclinical patterns of pelvic (urinary, bowel, sexual) disorders depending on the dysraphism's type and level of injury.

This description will help to determine a prognosis on symptoms and the risk of complication depending on the dysraphism's type and level of injury. It will provide targeted evaluation and cares: identifying patients who will be at risk of complications and needing acute monitoring or preventing cares on the symptoms' onset.

Pelvic disorders have an important impact on morbi-mortality (urinary dysfunction is the first cause of mortality in adults by renal failure or infection) and also on patients' quality of life.

This is an observational descriptive study with prospective inclusions of patients over 18 years old with spinal dysraphism, evaluated for urinary, anorectal, sexual dysfunctions in a one-day hospitalization.

Inclusions will be recorded during this one-day hospitalization. On this day, patients will have a medical consultation and data concerning medical history, treatments, pelvic disorders' characteristics and physical examination will be recorded. They will answer questionnaires on pelvic dysfunctions, quality of life, anxiety and depression, cognitive disorders and self-catheterizations' adherence or difficulties. They will also undergo urodynamics. In case of peripheral neurological pattern, a perineal electrophysiology will be done with recording of bulbocavernosus reflex latency and somatosensory evoked potentials.

Outpatient examinations (urinary ultrasound, urethrocystography, anorectal manometry, defecography blood test with serum creatinine, glycemia, TSH, lipids) will be collected at the next consultation.

Patients' participation will last 12 months maximum (time period between the one-day hospitalization (inclusion) and the follow up consultation where the outpatients' examinations results will be recorded).

A better understanding of pelvic dysfunctions, according to neurological systematization and type of spinal dysraphism, will help to focus the evaluation and therapeutic managements on patients with spinal dysraphism at risk of uronephrological complications.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Maelys Teng, MD, MSc; Phone Number: 0156017954; Email: maelys.teng@aphp.fr
• Study Contact Backup: Name: Claire Hentzen, MD, MSc; Phone Number: +33 0156017954; Email: claire.hentzen@aphp.fr

Study Locations

• France
  • Paris, France, 75020
    • Recruiting
    • Tenon Hospital
    • Contact: Claire Hentzen, MD, MSc; Phone Number: +33 0156017954; Email: claire.hentzen@aphp.fr
    • Contact: Maelys Teng, MD, MSc; Phone Number: +33 0156017954; Email: maelys.teng@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Men and women over 18 years old with spinal dysraphism

Description

Inclusion Criteria:

• men and women over 18 years old with spinal dysraphism,
• urinary and/or bowel and/or sexual dysfunction,
• evaluated in a one day consultation in a neuro-urology department.
• Informed consent is required from the patient or his tutor/curator if he is under legal protection

Exclusion Criteria:

• language barrier with non-understanding of French language,
• other neurologic pathologies except syringomyelia, Chiari malformation or hydrocephalus who are often associated to spinal dysraphism.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

patient with spinal dysraphism

Other: Individualisation of uronephrological complications risk factors; description of pelvic disorders in terms of clinical presentation, electrophysiology/urodynamics/anorectal manometry patterns, urethrocystography/urinary ultrasound/defecography results and urinary complications (infections, vesicoureteral reflux), depending on the dysraphim's type and level of injury and to correlate these parameters to the uronephrological risk factors and complications recorded.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
sexual dysfunctions in term of spinal dysraphisms	Sexual dysfonctions according the scale Men Health Sexual Questionnaire (MHSQ) score between 5 to 125 (no problem)	1 day
patient quality of life	questionnaire "Qualiveen" (quality of life linked to health) to be completed by patient (score between 0 (no problem) to 4)	1 day
Urinary disorders	Urinary Symptom Profile (USP) questionnaire (score between 0 (no problem) to 39)	1 day
cognitive disorders	Montreal Cognitive Assessment (MOCA) scale (score between 0 to 30, normal between >=26)	1 day
pelvic disorders description thanks to exams	urinary echography, anorectal manometry and defecography will be performed in order to described pelvic disorders n.	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
urinary complications	number of infections, vesicoureteral reflux	1 day

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): November 6, 2023
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): November 1, 2028

Study Registration Dates

• First Submitted: January 12, 2023
• First Submitted That Met QC Criteria: February 6, 2023
• First Posted (Actual): February 8, 2023

Study Record Updates

• Last Update Posted (Actual): April 12, 2024
• Last Update Submitted That Met QC Criteria: April 11, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: risk factors; sexual dysfunction; spinal dysraphism; bowel dysfunction; uronephrological complications; urinary dysfunction
• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Nervous System Malformations; Neural Tube Defects; Spinal Dysraphism
• Other Study ID Numbers: APHP221008

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No