Congenital Adrenal Hyperplasia (CAH)NCT00250159
Natural History Study of Patients With Excess Androgen
An observational study of Congenital Adrenal Hyperplasia (CAH) and Familial Male-Limited Precocious Puberty (FMPP), run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 2 sites in United States.
Trial summary
This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Read more about this study
- Who is it for?
- Ages 1 day to 99 years
- Conditions the study is for
- Congenital Adrenal Hyperplasia (CAH), Familial Male-Limited Precocious Puberty (FMPP)
- How many people
- 3,000 participants
- Where
- 2 sitesUnited States
- Study dates
- 2 Jan 2006to not given
- 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 1 day to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with excess androgen, CAH, FMPP as well as their parents.
Who may be able to join
- Males, ages 0 - 99 with known or suspected FMPP or
- Patients (males and females, ages 0 - 99) with known or suspected (based on hormonal, clinical and/or genetic testing) CAH of any type.
- Patients with excess androgen of unknown etiology or
- Relatives of patients in this protocol.
Who cannot join
- Females with isolated polycystic ovary syndrome. If, following a diagnostic work-up, a patient is determined to have PCOS as the only cause of her hyperandrogenism; she will no longer be followed on this protocol.
- Patients with significant non-endocrine medical conditions.
- Females who are pregnant at the time of initial enrollment.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
- Completed
Medstar Washington Hospital Center
Washington D.C., District of Columbia, 20010
About this study
This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Too much androgen in childhood, if untreated, results in rapid growth and early puberty with early cessation of growth and short stature in adulthood. Too much androgen in adulthood may result in infertility, and women may have excess facial hair, acne and a more male-like appearance. Excess androgen may also affect mood and behavior and possibly the secretion of other hormones, such as insulin. Two genetic diseases that result in early childhood androgen excess are congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP).
Patients with known or suspected CAH due to 21-hydroxylase deficiency, 11- hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency and males with known or suspected FMPP may be eligible for this study. Patients with both classic and non-classic CAH are eligible, and patients with androgen excess of unknown cause may be eligible.
Read more
Participants undergo the following procedures:
- Medical history and physical examination.
- Fasting blood tests for analysis of hormones, blood chemistries including blood sugar and cardiovascular risk factors such as lipids.
- Oral glucose tolerance test for patients with elevated insulin levels. For this test, a catheter (plastic tube) is placed in a vein in the patient's arm. The patient drinks a sugar-containing fluid and blood samples are collected through the catheter at intervals starting with drinking the solution, and then 30, 60 and 120 minutes after drinking the solution.
- 24-hour urine collection to measure hormone levels in the urine.
- DNA testing for patients with 21-hydroxylase deficiency to help identify the type of genetic mutation responsible for the disease.
- X-ray of the left hand to measure bone age in growing children. The x-ray is used to determine how far into puberty the child is and how much growth potential is left in the bones.
- A pelvic ultrasound in females and testicular ultrasound in males to evaluate the size and development of the gonads (ovaries in females and testes in males).
- Cognitive and psychological tests, including an IQ test and evaluation of memory, achievement and behavior.
- Other tests and evaluations based on medical need.
The schedule for these procedures varies. In a part of the study involving only patients with CAH, growing children are evaluated twice (once in childhood and once after reaching adult height), and adults are evaluated once. In another part of the study involving patients with CAH and FMPP, growing children are seen twice a year, and adults and children who have reached adult height may be seen annually. Additional visits may be scheduled if medically indicated. In this part of the study, females are asked to keep a record of their periods after their first menstrual cycle.
...
Read the detailed description
Study Description:
Androgen excess in childhood results in pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, adult short stature, and unknown metabolic and psychological perturbations. Congenital Adrenal Hyperplasia (CAH) and familial male-limited precocious puberty (FMPP) are two genetic diseases that result in early childhood androgen excess, and CAH due to 21-hydroxylase deficiency is the most common cause of hyperandrogenism in childhood. This protocol will elucidate a comprehensive phenotypic profile for patients with CAH and FMPP. Data will be collected in a large cohort of patients regarding growth and development, hormonal and metabolic factors and psychological characteristics. This protocol will allow investigators to compare patients with androgen excess of different etiologies, elucidate androgen-mediated and disease-specific phenotypic characterizations, and allow the investigators to acquire further knowledge for use in the design of future
therapeutic interventions.
Objective:
To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP.
- Keywords
- Congenital Adrenal Hyperplasia (CAH), Familial Male Precocious Puberty (FMPP), 21-Hydroxylase Deficiency, Adrenal Insufficiency, Natural History, Congenital Adrenal Hyperplasia, CAH, Familial Male Precocious Puberty, FMPP
- Medical subject headings
- Adrenal Hyperplasia, Congenital, Familial Testotoxicosis, Puberty, Precocious, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency, Adrenal Insufficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1/CAH Patients Managed at the NIH | Patients with Congenital Adrenal Hyperplasia (CAH). | |
| 2/CAH Patients Managed by Outside Physicians | Patients with Congenital Adrenal Hyperplasia (CAH) followed by home physician post visit at NIH. | |
| 3/Relatives of Patients | Relatives (mostly parents) of patients will be genotyped. This is often necessary to establish the genotype of the patient. | |
| 4/FMPP Patients | Patients with Familial Male-Limited Precocious Puberty (FMPP). | |
| 5/Patients with Androgen Excess of Unknown Etiology | Patients with Androgen Excess of Unknown Etiology followed by home physician post visit at NIH. |
What is being measured
The primary outcome is the main question the study is designed to answer.
To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP
Better understanding of CAH and FMPP
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2005 (estimated)
- Study start2 Jan 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Congenital Adrenal Hyperplasia (CAH)Studies of the same condition, open and under way.
- 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
- 3,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Deborah P Merke, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00250159
- Sponsor's protocol ID
- 060011
- Other IDs
- 06-CH-0011
- Status last verified
- 18 Aug 2026
- First submitted
- 5 Nov 2005
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0.
PubMed 15964450Grumbach MM, Shaw EB. Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism, by John F. Crigler Jr, MD, Samuel H. Silverman, MD, and Lawson Wilkins, MD, Pediatrics, 1952;10:397-413. Pediatrics. 1998 Jul;102(1 Pt 2):215-21. No abstract available.
PubMed 9651433Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab. 2004 Feb;89(2):591-7. doi: 10.1210/jc.2003-030634.
PubMed 14764767Javaid R, Sinaii N, Kollender S, Desai J, Moon A, Merke DP. Course of COVID-19 infection in patients with congenital adrenal hyperplasia. Front Endocrinol (Lausanne). 2024 Feb 9;15:1348130. doi: 10.3389/fendo.2024.1348130. eCollection 2024.
PubMed 38405151Lao Q, Zhou K, Parker M, Faucz FR, Merke DP. Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X. Genes (Basel). 2023 Jan 19;14(2):265. doi: 10.3390/genes14020265.
PubMed 36833192Torky A, Sinaii N, Jha S, Desai J, El-Maouche D, Mallappa A, Merke DP. Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5247-e5257. doi: 10.1210/clinem/dgab133.
PubMed 33677504Lao Q, Jardin MD, Jayakrishnan R, Ernst M, Merke DP. Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet. 2018 Dec;137(11-12):955-960. doi: 10.1007/s00439-018-1959-z. Epub 2018 Nov 21.
PubMed 30465166Turcu AF, Mallappa A, Elman MS, Avila NA, Marko J, Rao H, Tsodikov A, Auchus RJ, Merke DP. 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2701-2710. doi: 10.1210/jc.2016-3989.
PubMed 28472487Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP. Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2015 Aug;100(8):E1143-52. doi: 10.1210/jc.2015-2232. Epub 2015 Jun 15.
PubMed 26075496Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.
PubMed 22990093Crocker MK, Barak S, Millo CM, Beall SA, Niyyati M, Chang R, Avila NA, Van Ryzin C, Segars J, Quezado M, Merke DP. Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Nov;97(11):E2084-9. doi: 10.1210/jc.2012-2298. Epub 2012 Aug 17.
PubMed 22904181
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Patients With Excess Androgen
- ClinicalTrials.gov ID
- NCT00250159
- Acronym / sponsor ID
- 060011
- Keywords
- Congenital Adrenal Hyperplasia (CAH), Familial Male Precocious Puberty (FMPP), 21-Hydroxylase Deficiency, Adrenal Insufficiency, Natural History, Congenital Adrenal Hyperplasia, CAH, Familial Male Precocious Puberty
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 2 Jan 2006 (actual)
- First posted
- 7 Nov 2005 (estimated)
- 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.
This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Too much androgen in childhood, if untreated, results in rapid growth and early puberty with early cessation of growth and short stature in adulthood. Too much androgen in adulthood may result in infertility, and women may have excess facial hair, acne and a more male-like appearance. Excess androgen may also affect mood and behavior and possibly the secretion of other hormones, such as insulin. Two genetic diseases that result in early childhood androgen excess are congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP).
Patients with known or suspected CAH due to 21-hydroxylase deficiency, 11- hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency and males with known or suspected FMPP may be eligible for this study. Patients with both classic and non-classic CAH are eligible, and patients with androgen excess of unknown cause may be eligible.
Participants undergo the following procedures:
- Medical history and physical examination.
- Fasting blood tests for analysis of hormones, blood chemistries including blood sugar and cardiovascular risk factors such as lipids.
- Oral glucose tolerance test for patients with elevated insulin levels. For this test, a catheter (plastic tube) is placed in a vein in the patient's arm. The patient drinks a sugar-containing fluid and blood samples are collected through the catheter at intervals starting with drinking the solution, and then 30, 60 and 120 minutes after drinking the solution.
- 24-hour urine collection to measure hormone levels in the urine.
- DNA testing for patients with 21-hydroxylase deficiency to help identify the type of genetic mutation responsible for the disease.
- X-ray of the left hand to measure bone age in growing children. The x-ray is used to determine how far into puberty the child is and how much growth potential is left in the bones.
- A pelvic ultrasound in females and testicular ultrasound in males to evaluate the size and development of the gonads (ovaries in females and testes in males).
- Cognitive and psychological tests, including an IQ test and evaluation of memory, achievement and behavior.
- Other tests and evaluations based on medical need.
The schedule for these procedures varies. In a part of the study involving only patients with CAH, growing children are evaluated twice (once in childhood and once after reaching adult height), and adults are evaluated once. In another part of the study involving patients with CAH and FMPP, growing children are seen twice a year, and adults and children who have reached adult height may be seen annually. Additional visits may be scheduled if medically indicated. In this part of the study, females are asked to keep a record of their periods after their first menstrual cycle.
...
Detailed description
Study Description:
Androgen excess in childhood results in pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, adult short stature, and unknown metabolic and psychological perturbations. Congenital Adrenal Hyperplasia (CAH) and familial male-limited precocious puberty (FMPP) are two genetic diseases that result in early childhood androgen excess, and CAH due to 21-hydroxylase deficiency is the most common cause of hyperandrogenism in childhood. This protocol will elucidate a comprehensive phenotypic profile for patients with CAH and FMPP. Data will be collected in a large cohort of patients regarding growth and development, hormonal and metabolic factors and psychological characteristics. This protocol will allow investigators to compare patients with androgen excess of different etiologies, elucidate androgen-mediated and disease-specific phenotypic characterizations, and allow the investigators to acquire further knowledge for use in the design of future
therapeutic interventions.
Objective:
To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| 1/CAH Patients Managed at the NIH | – | –Patients with Congenital Adrenal Hyperplasia (CAH). |
| 2/CAH Patients Managed by Outside Physicians | – | –Patients with Congenital Adrenal Hyperplasia (CAH) followed by home physician post visit at NIH. |
| 3/Relatives of Patients | – | –Relatives (mostly parents) of patients will be genotyped. This is often necessary to establish the genotype of the patient. |
| 4/FMPP Patients | – | –Patients with Familial Male-Limited Precocious Puberty (FMPP). |
| 5/Patients with Androgen Excess of Unknown Etiology | – | –Patients with Androgen Excess of Unknown Etiology followed by home physician post visit at NIH. |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with excess androgen, CAH, FMPP as well as their parents.
Key inclusion criteria (4 listed)
Key exclusion criteria (3 listed)
- Females with isolated polycystic ovary syndrome. If, following a diagnostic work-up, a patient is determined to have PCOS as the only cause of her hyperandrogenism; she will no longer be followed on this protocol.
- Patients with significant non-endocrine medical conditions.
- Females who are pregnant at the time of initial enrollment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP
Time frame: Ongoing
Better understanding of CAH and FMPP
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 5 Nov 2026.
- Background: PubMed 15964450Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0.
- Background: PubMed 9651433Grumbach MM, Shaw EB. Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism, by John F. Crigler Jr, MD, Samuel H. Silverman, MD, and Lawson Wilkins, MD, Pediatrics, 1952;10:397-413. Pediatrics. 1998 Jul;102(1 Pt 2):215-21. No abstract available.
- Background: PubMed 14764767Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab. 2004 Feb;89(2):591-7. doi: 10.1210/jc.2003-030634.
- Derived from this study: PubMed 38405151Javaid R, Sinaii N, Kollender S, Desai J, Moon A, Merke DP. Course of COVID-19 infection in patients with congenital adrenal hyperplasia. Front Endocrinol (Lausanne). 2024 Feb 9;15:1348130. doi: 10.3389/fendo.2024.1348130. eCollection 2024.
- Derived from this study: PubMed 36833192Lao Q, Zhou K, Parker M, Faucz FR, Merke DP. Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X. Genes (Basel). 2023 Jan 19;14(2):265. doi: 10.3390/genes14020265.
- Derived from this study: PubMed 33677504Torky A, Sinaii N, Jha S, Desai J, El-Maouche D, Mallappa A, Merke DP. Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5247-e5257. doi: 10.1210/clinem/dgab133.
- Derived from this study: PubMed 30465166Lao Q, Jardin MD, Jayakrishnan R, Ernst M, Merke DP. Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet. 2018 Dec;137(11-12):955-960. doi: 10.1007/s00439-018-1959-z. Epub 2018 Nov 21.
- Derived from this study: PubMed 28472487Turcu AF, Mallappa A, Elman MS, Avila NA, Marko J, Rao H, Tsodikov A, Auchus RJ, Merke DP. 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2701-2710. doi: 10.1210/jc.2016-3989.
- Derived from this study: PubMed 26075496Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP. Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2015 Aug;100(8):E1143-52. doi: 10.1210/jc.2015-2232. Epub 2015 Jun 15.
- Derived from this study: PubMed 22990093Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.
- Derived from this study: PubMed 22904181Crocker MK, Barak S, Millo CM, Beall SA, Niyyati M, Chang R, Avila NA, Van Ryzin C, Segars J, Quezado M, Merke DP. Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012 Nov;97(11):E2084-9. doi: 10.1210/jc.2012-2298. Epub 2012 Aug 17.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
Deborah P Merke, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Adrenal Hyperplasia (CAH) and Familial Male-Limited Precocious Puberty (FMPP), run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 2 sites in United States.
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 4 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 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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 Deborah P Merke, M.D. ((301) 496-0718, dmerke@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00250159, which also lists 11 linked publications.
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 5 Nov 2026.