CAH - 21-Hydroxylase DeficiencyPARENT-HCSNCT06900153
Parenting and CAH - 21-hydroxylase Deficiency
An observational study of CAH - 21-Hydroxylase Deficiency, run by Assistance Publique - Hôpitaux de Paris at 7 sites in France.
Trial summary
Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive transmission, which is defined by a deficiency of one of the steroidogenesis enzymes. 21-hydroxylase deficiency (21OHD), related to mutations of the CYP21A2 gene, is involved in 90 to 95% of CAH cases. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- CAH - 21-Hydroxylase Deficiency
- What is being tested?
- phone questionnaire
- How many people
- 200 participants
- Where
- 7 sitesFrance
- Study dates
- 16 Mar 2026to 16 Mar 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Women with HCS due to 21-hydroxylase deficiency, confirmed genetically, and monitored in one of the participating Endocrinology departments affiliated with the CRMR of the FIRENDO network
Who may be able to join
- Patients aged 18 or over
- Patients with HCS due to 21-hydroxylase deficiency, confirmed genetically
- Patients who have been informed and do not object to participating in the research
Who cannot join
- Patients who do not speak French
- Patients who are not affiliated to a social security scheme or who are not entitled to it
- Patients under legal protection, or under guardianship or trusteeship.
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
France7 sites, 7 recruiting
- Recruiting
Hôpital Haut-Leveque-Service d'Endocrinologie
Bordeaux, 33000
Virginie GROUTHIER, DR, virginie.grouthier@chu-bordeaux.fr
Virginie GROUTHIER, Dr
- Recruiting
Hospices Civiles de Lyon - Hôpital Femme Mère Enfant, Service Endocrinologie
Bron
Aude BRAC DE LA PERRIERE, 04 27 85 66 66, aude.brac@chu-lyon.fr
- Recruiting
CHIC- Service d'Endocrinologie
Créteil, 94000
BRY GAUILLARD, Dr, 0145217300, Helene.Bry@chicreteil.fr
Bry GAUILLARD, Dr
- Recruiting
AP-HP Hôpital Bicêtre - Service gynécologie Médicale
Le Kremlin-Bicêtre, 94270
Lise DURANTEAU, Dr, 0672156341, lise.duranteau@aphp.fr
Lise Duranteau, Dr
- Recruiting
AP-HP Hôpital Bicêtre, Service Endocrinologie
Le Kremlin-Bicêtre
Lise DURANTEAU, 0145217300, lise.duranteau@aphp.fr
- Recruiting
Service d'endocrinologie, Hôpital Pitié Salpêtrière
Paris
Anne BACHELOT, 0142160246, anne.bachelot@aphp.fr
- Recruiting
Service d'endocrinologie, Hôpital Saint Antoine
Paris
Sophie CHRISTIN MAITRE, 0149282969, sophie.christin-maitre@aphp.fr
About this study
Official title: Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive transmission, which is defined by a deficiency of one of the steroidogenesis enzymes. 21-hydroxylase deficiency (21OHD), related to mutations of the CYP21A2 gene, is involved in 90 to 95% of CAH cases. Depending on the severity of the mutations of this gene, there are severe forms known as "classic" (FC), with neonatal onset, and moderate forms known as "non-classic" (FNC), with onset later in childhood or after puberty. The classic form includes the salt-wasting form and the pure virilizing form, depending on the degree of aldosterone deficiency. The sexuality and fertility of women with classic 21OHD deficiency are impaired by several factors such as disruption of the gonadotropic axis due to overproduction of androgens and progesterone by the adrenal glands, and mechanical and psychological factors related to genital surgery. The fertility of these women improves over time, largely due to earlier treatment of CAH, improved therapeutic compliance and surgical advances in genital reconstruction leading to an increase in the percentage of patients who are sexually active. However, there is little data available, and even less on the course of pregnancy, its complications and its outcomes.
- Conditions
- CAH - 21-Hydroxylase Deficiency
- Being tested
- phone questionnaire
- Keywords
- congenital adrenal hyperplasia due to 21, hydroxylase deficiency, fertility, pregnancy outcomes, pregnancy related, hormonal substitution, parental project
- Medical subject headings
- Adrenal Hyperplasia, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
phone questionnaireOther
the investigator calls the patient and asks her questions about her parental project and her pregnancies
What is being measured
The primary outcome is the main question the study is designed to answer.
to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique.
Information on how the pregnancy was achieved will be collected from the medical file and will be supplemented on the day of inclusion by a telephone questionnaire to the patient, if the data in the file do not provide answers to the study's questions.
Measured: Day 1
Secondary outcomes (3)
Describe the existence of a parental project among the women in the cohort
The description of the parental project will be based on the patients' declaration of the presence or absence of a desire to have children, and if not, what the reasons were
Measured: Day 1
Describe obstetric complications
The description of obstetrical complications (GEU, miscarriages, in utero fetal death, IUGR, gestational diabetes, hypertension, pre-eclampsia, HELLP syndrome, cholestasis gravidarum, term of delivery, spontaneous or induced labor, birth weight, breastfeeding if desired) will be based on data from pregnancy and childbirth follow-up reports.
Measured: Day 1
Describe the hormonal substitution adjustments.
The description of hormone replacement adjustments will be based on the prescription of Hydrocortisone and Fludrocortisone.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2025
- Study start16 Mar 2026
- Primary completion16 Mar 2027 (estimated)
- Study completion16 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CAH - 21-Hydroxylase DeficiencyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06900153
- Sponsor's protocol ID
- APHP250491
- Acronym
- PARENT-HCS
- Status last verified
- Aug 2026
- First submitted
- 21 Mar 2025
- Last updated
- 31 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Description of Parental Projects, Pregnancies and Pregnancy Outcomes in Patients With a Classic Form of 21-hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT06900153
- Acronym / sponsor ID
- PARENT-HCS / APHP250491
- Conditions
- CAH - 21-Hydroxylase Deficiency
- Keywords
- congenital adrenal hyperplasia due to 21, hydroxylase deficiency, fertility, pregnancy outcomes, pregnancy related, hormonal substitution, parental project
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 16 Mar 2026 (actual)
- Primary completion
- 16 Mar 2027 (estimated)
- Study completion
- 16 Mar 2027 (estimated)
- First posted
- 28 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive transmission, which is defined by a deficiency of one of the steroidogenesis enzymes. 21-hydroxylase deficiency (21OHD), related to mutations of the CYP21A2 gene, is involved in 90 to 95% of CAH cases. Depending on the severity of the mutations of this gene, there are severe forms known as "classic" (FC), with neonatal onset, and moderate forms known as "non-classic" (FNC), with onset later in childhood or after puberty. The classic form includes the salt-wasting form and the pure virilizing form, depending on the degree of aldosterone deficiency. The sexuality and fertility of women with classic 21OHD deficiency are impaired by several factors such as disruption of the gonadotropic axis due to overproduction of androgens and progesterone by the adrenal glands, and mechanical and psychological factors related to genital surgery. The fertility of these women improves over time, largely due to earlier treatment of CAH, improved therapeutic compliance and surgical advances in genital reconstruction leading to an increase in the percentage of patients who are sexually active. However, there is little data available, and even less on the course of pregnancy, its complications and its outcomes.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Women with HCS due to 21-hydroxylase deficiency, confirmed genetically, and monitored in one of the participating Endocrinology departments affiliated with the CRMR of the FIRENDO network
Key inclusion criteria (3 listed)
- Patients aged 18 or over
- Patients with HCS due to 21-hydroxylase deficiency, confirmed genetically
- Patients who have been informed and do not object to participating in the research
Key exclusion criteria (3 listed)
- Patients who do not speak French
- Patients who are not affiliated to a social security scheme or who are not entitled to it
- Patients under legal protection, or under guardianship or trusteeship.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| phone questionnairethe investigator calls the patient and asks her questions about her parental project and her pregnancies | Other | – |
Primary outcome
to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique.
Time frame: Day 1
Information on how the pregnancy was achieved will be collected from the medical file and will be supplemented on the day of inclusion by a telephone questionnaire to the patient, if the data in the file do not provide answers to the study's questions.
3 secondary outcomes
Describe the existence of a parental project among the women in the cohort
Time frame: Day 1
Describe obstetric complications
Time frame: Day 1
Describe the hormonal substitution adjustments.
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2026.
- Individual participant dataSharing planned: Yes. The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CAH - 21-Hydroxylase Deficiency, run by Assistance Publique - Hôpitaux de Paris at 7 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 31 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anne BACHELOT (01 42 16 02 46, anne.bachelot@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
to describe how pregnancies are achieved: spontaneous or induced, if induced by which ART technique. (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2026.