Adrenal Hyperplasia, Congenital Clinical Trial
— CAH-MaSOfficial title:
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.
Status | Recruiting |
Enrollment | 61 |
Est. completion date | February 1, 2024 |
Est. primary completion date | February 1, 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 16 Years to 100 Years |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United Kingdom | Manchester University NHS Foundation trust | Manchester |
Lead Sponsor | Collaborator |
---|---|
Manchester University NHS Foundation Trust |
United Kingdom,
Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH. Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4089-4096. doi: 10.1210/jc.2018-01863. — View Citation
Baskin LS, Erol A, Li YW, Liu WH, Kurzrock E, Cunha GR. Anatomical studies of the human clitoris. J Urol. 1999 Sep;162(3 Pt 2):1015-20. doi: 10.1016/S0022-5347(01)68052-2. — View Citation
Binet A, Lardy H, Geslin D, Francois-Fiquet C, Poli-Merol ML. Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype? J Pediatr Surg. 2016 Mar;51(3):465-8. doi: 10.1016/j.jpedsurg.2015.10.004. Epub 2015 Oct 22. — View Citation
Fagerholm R, Santtila P, Miettinen PJ, Mattila A, Rintala R, Taskinen S. Sexual function and attitudes toward surgery after feminizing genitoplasty. J Urol. 2011 May;185(5):1900-4. doi: 10.1016/j.juro.2010.12.099. — View Citation
Frost-Arner L, Aberg M, Jacobsson S. Clitoral sensitivity after surgical correction in women with adrenogenital syndrome: a long term follow-up. Scand J Plast Reconstr Surg Hand Surg. 2003;37(6):356-9. doi: 10.1080/02844310310007863. — View Citation
Lee PA, Witchel SF. Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades. J Pediatr Endocrinol Metab. 2002 Nov-Dec;15(9):1473-7. doi: 10.1515/jpem.2002.15.9.1473. — View Citation
Lesma A, Bocciardi A, Corti S, Chiumello G, Rigatti P, Montorsi F. Sexual function in adult life following Passerini-Glazel feminizing genitoplasty in patients with congenital adrenal hyperplasia. J Urol. 2014 Jan;191(1):206-11. doi: 10.1016/j.juro.2013.07.097. Epub 2013 Aug 6. — View Citation
O'Connell HE, Sanjeevan KV, Hutson JM. Anatomy of the clitoris. J Urol. 2005 Oct;174(4 Pt 1):1189-95. doi: 10.1097/01.ju.0000173639.38898.cd. — View Citation
Schnitzer JJ, Donahoe PK. Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001 Mar;30(1):137-54. doi: 10.1016/s0889-8529(08)70023-9. — View Citation
Shalaby M, Chandran H, Elford S, Kirk J, McCarthy L. Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery. Pediatr Surg Int. 2021 Jan;37(1):137-143. doi: 10.1007/s00383-020-04780-3. Epub 2020 Nov 23. — View Citation
Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003 Aug 21;349(8):776-88. doi: 10.1056/NEJMra021561. No abstract available. — View Citation
* Note: There are 11 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | To assess Individual's and parental view regarding their management using a specific questionnaire | CAH affected individual's and parental satisfaction with the choice and the outcome of their management over the years. | 2 years | |
Secondary | Impact of the condition on individuals | To assess the impact of CAH upon the affected individual's life using a specific questionnaire | 2 years | |
Secondary | The impact of the individual's condition on parents | To assess the impact of CAH upon the parents of affected individual using a specific questionnaire | 2 years | |
Secondary | The impact of the genital appearance on individuals | To assess the impact of genital appearance upon the CAH affected individual's development using a specific questionnaire | 2 years | |
Secondary | The impact of the genital appearance of the individuals on parents | To assess the impact of genital appearance of the CAH affected individual on parents using a specific questionnaire | 2 years | |
Secondary | Impact of the condition on the family. | Parental views on the effect of CAH condition upon the family using a specific questionnaire | 2 years | |
Secondary | Opinion on early childhood surgery. | Parental perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire | 2 years | |
Secondary | Opinion on early childhood surgery. | Individual perspective towards the NHS England proposal to take away the option of early childhood surgery using a specific questionnaire | 2 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT03162172 -
Growth Hormone (GH) in Congenital Adrenal Hyperplasia
|
N/A | |
Recruiting |
NCT00617292 -
Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
|
N/A | |
Completed |
NCT00529841 -
Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia
|
N/A | |
Recruiting |
NCT01771328 -
Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
|
Phase 2 | |
Active, not recruiting |
NCT01862380 -
Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.
|
N/A | |
Completed |
NCT03589144 -
LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT)
|
||
Completed |
NCT01488721 -
Clinical Evaluation of NeoPlex4 Assay and NeoPlex System
|
N/A | |
Recruiting |
NCT00694525 -
Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia
|
N/A | |
Completed |
NCT00621985 -
Dexamethasone Treatment of Congenital Adrenal Hyperplasia
|
Phase 2 |