Questionnaire Study to Assess the Outcomes of the Management of Congenital Adrenal Hyperplasia Individuals (CAH-MaS)

March 10, 2023 updated by: Arianna Mariotto, Manchester University NHS Foundation Trust

Questionnaire Study to Assess Long-term Psychosocial and Functional Outcomes in Individuals With Virilising Form of Congenital Adrenal Hyperplasia

This is a questionnaire study involving women and young girls affected by Congenital Adrenal Hyperplasia (CAH) and their parents. The aim is to obtain information regarding the outcomes of conservative or surgical management of CAH at the Royal Manchester Children's Hospital (RMCH) in the last 50 years, with specific reference to genital appearance and its impact on patient's social/physical/emotional/sexual outcomes. The study wants also investigate on the individuals and parental perspectives on the proposal to take away the option of early childhood surgery for girls with this condition.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal-recessive disorders that results in virilisation of the female child due to intrauterine exposure to androgens at a critical phase of differentiation. Female infants may present with a variable degree of genital virilisation, and depending on it and on parental wishes, genital surgery (also called genitoplasty) is offered in infancy/early childhood. Some patients do not undergo surgery in infancy or early childhood, some of these patients may present at a later stage for consideration of genitoplasty, some may request further genitoplasty.

In current practice, most clitoral procedures involve dorsal neurovascular bundle preservation. However, damage to the clitoral innervation through incision could lead to disruption of neurological pathways, compromising clitoral sensitivity, erotic sensation and pleasure.

There is limited and controversial data measuring qualitative outcomes of sexual function and genital sensitivity following feminizing genitoplasty in childhood and it is very important to assess modern surgical and functional outcomes.

Another controversial topic is the timing of surgery, early infancy versus delayed to adolescence/adulthood, when the patient is able to give her opinion.

Currently there is extensive debate at national and international level about the best timing of such surgery and there are proposals to stop funding for all childhood surgery in the above group of children until they are old enough to make a decision.

It is therefore imperative that this decision is informed by evidence, highlighting the importance and necessity of a study that aims to evaluate psychosocial and functional outcomes.

An objective evaluation of outcome of those patients who have been managed under our care - either conservatively or surgically (early or delayed) - would give us data which will be helpful in assessing whether genitoplasty surgery is felt to be necessary by individuals/families and if so, when is the right time to perform it.

It will also usefull to inform NHS England policy and also our consultation with children and their families thus aiding in the decision-making process.

The main objective of this study is to obtain information on psychosocial and functional outcomes and to assess parental and patients' satisfaction with the current approach where parents are given the option of either conservative or surgical management. CAH affected individuals with virilisation of external genitalia raised as females and treated under the care of the team/co-investigators over the last 50 years at RMCH will be identified from the departmental prospective CAH database. They will ask to fill study-specific questionnaires that have been developed by the study committee to explore the study objectives. The questionnaires are directed to CAH affected individuals aged 16 years and over and the parents of CAH affected girls aged 2 years and over. The research will run over a period of 12 months.

The completed questionnaires will be reviewed by a research team member to ensure that the questionnaire is complete and that participants have fully understood the questions. The analysis of the questionnaires will be done by the research team.

Study Type

Observational

Enrollment (Anticipated)

61

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United Kingdom
      • Manchester, United Kingdom, M13 OHY
        • Recruiting
        • Manchester University NHS Foundation Trust
        • Contact:
          • Arianna Mariotto
          • Phone Number: 11635 0161 701 1635

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years to 100 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

CAH affected individuals aged 16 years and over and parents/guardians of CAH affected girls aged 2 years are eligible for the study.

All individuals will be considered for inclusion in this study regardless of age, disability, gender reassignment, marriage and civil partnership, pregnancy and maternity, race, religion and belief, sex, and sexual orientation except where the study inclusion and exclusion criteria EXPLICITLY state otherwise.

Description

Inclusion Criteria:

  • Parents of CAH affected 46XX individuals aged 2 years and over who were born with virilised genitalia
  • CAH affected 46XX individuals who were born with virilised genitalia, 16 years of age and over.

Exclusion Criteria:

  • Female DSD children with virilisation which is not due to CAH
  • Non-virilised CAH patients
  • CAH patients raised as male
  • Parents of individuals excluded as above
  • Participants who cannot understand questionnaires in English

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Affected Individuals
Virilised 46XX CAH individuals aged 16 years or above
Other: Questionnaire
Three different questionnaires have been developed. They consist of multiple-choice questions and some open-ended questions.
Other Names:
  • Q1: CAH Management Assessment Questionnaire - Parent
  • Q2: CAH Management Assessment Questionnaire - Affected Individuals
  • Q3: Further Questionnaire for Affected Individuals
Parents of affected individuals
Parents of virilised 46XX CAH individuals aged 2 years and over.
Other: Questionnaire
Three different questionnaires have been developed. They consist of multiple-choice questions and some open-ended questions.
Other Names:
  • Q1: CAH Management Assessment Questionnaire - Parent
  • Q2: CAH Management Assessment Questionnaire - Affected Individuals
  • Q3: Further Questionnaire for Affected Individuals

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To assess Individual's and parental view regarding their management using a specific questionnaire
Time Frame: 2 years
CAH affected individual's and parental satisfaction with the choice and the outcome of their management over the years.
2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Impact of the condition on individuals
Time Frame: 2 years
To assess the impact of CAH upon the affected individual's life using a specific questionnaire
2 years
The impact of the individual's condition on parents
Time Frame: 2 years
To assess the impact of CAH upon the parents of affected individual using a specific questionnaire
2 years
The impact of the genital appearance on individuals
Time Frame: 2 years
To assess the impact of genital appearance upon the CAH affected individual's development using a specific questionnaire
2 years
The impact of the genital appearance of the individuals on parents
Time Frame: 2 years
To assess the impact of genital appearance of the CAH affected individual on parents using a specific questionnaire
2 years
Impact of the condition on the family.
Time Frame: 2 years
Parental views on the effect of CAH condition upon the family using a specific questionnaire
2 years
Opinion on early childhood surgery.
Time Frame: 2 years
Parental perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire
2 years
Opinion on early childhood surgery.
Time Frame: 2 years
Individual perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Manchester University NHS Foundation Trust

Investigators

  • Principal Investigator: Arianna Mariotto, Royal Manchester Children's Hospital Manchester University NHS Foundation Trust

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 28, 2022

Primary Completion (Anticipated)

February 1, 2024

Study Completion (Anticipated)

February 1, 2024

Study Registration Dates

First Submitted

January 7, 2022

First Submitted That Met QC Criteria

January 27, 2022

First Posted (Actual)

February 8, 2022

Study Record Updates

Last Update Posted (Actual)

March 13, 2023

Last Update Submitted That Met QC Criteria

March 10, 2023

Last Verified

March 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • B01259
  • 296826 (Other Identifier: IRAS)

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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