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Protocol Details

A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children with Classic 21-Hydroxylase Deficiency

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: 9 Years

Referral Letter Required


Population Exclusion(s)



Adrenocortical Hyperfunction;
Adrenogenital Syndrome;
Adrenal Hyperplasia, Congenital;
Metabolism, Inborn Errors;
Abiraterone Acetate

Recruitment Keyword(s)



Metabolic Diseases;
Adrenal Gland Diseases;
Endocrine System Diseases;
Gonadal Disorders;
Genetic Diseases, Inborn

Investigational Drug(s)

Abiraterone acetate

Investigational Device(s)



Drug: Abiraterone acetate

Supporting Site

National Institute of Child Health and Human Development


Children with Congenital Adrenal Hyperplasia (CAH) can have too many male sex hormones called androgens in their blood. Usual treatment is daily medicines to keep the body from making too many androgens. This can cause unwanted side effects. The drug abiraterone acetate (ZYTIGA ) also blocks androgen making. Researchers want to see if it helps children with CAH.


To see if adding abiraterone acetate to standard drugs (hydrocortisone and fludrocortisone) is safe and more effective for treating CAH in children.


Prepubescent girls (ages 2 8) and boys (ages 2 9) weighing at least 26 pounds, and currently taking standard drugs for their CAH


Participants will be screened with:

-Medical history

-Physical exam

-Blood, urine, and heart tests

-Wrist x-ray

-Cataract exam

Participants will have up to 6 in-person visits and 3 phone calls. At visits, they will repeat some screening tests. They will have to fast before some visits. They may have to repeat some visits.

Participants will reduce their daily hydrocortisone dose based on body size.

At one visit, participants will get the first study drug dose. They will have blood drawn before and after through an IV catheter.

Participants will take the study drug once a day for 7 days. The drug capsules must be opened and sprinkled over low-fat food like applesauce.

Participants parents will keep a diary of the medicine doses.

Some participants may join the next phase of the study. They will take the study drug over 2 years. They will sign a separate consent form.

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Each subject must satisfy all of the following criteria to advance to the Treatment Phase of the study.

1. Pre-pubescent girls (age 2 years [12 kg minimum] to 8 years inclusive (i.e.,prior to the 9th birthday); skeletal age <11 years (Phase 1) or <10 years (Phase 2) or boys (age 2 years [12 kg] to 9 years inclusive; skeletal age <12 years (Phase 1) or <11 years(Phase 2)). The broader bone age criterion in Phase 1 is to assist with recruitment.

2. Confirmed classic 21-hydroxylase deficiency evident by genotype groups A, A1 or B or clinical course (e.g., adrenal crisis with documented hyperkalemia and hyponatremia, at diagnosis or during a later evaluation; ambiguous genitalia in females). Documentation of one or both parents genotypes may be required to confirm the subject s genotype.

3. Requirement for standard of care fludrocortisone (any dose) and greater than or equal to10 mg/m2/day of hydrocortisone for at least 1 month prior to the study consent.

4. Morning serum androstenedione concentrations >1.5 x ULN after 7 days of dosing with doses of hydrocortisone required for physiologic replacement.

5. Both parents must sign the informed consent form unless one parent is deceased, unknown, incompetent, or not reasonably available or when only one parent has legal responsibility for the care and custody of the child. Children who are capable of providing assent (typicall 10 years of age and older) must sign an assent form before the performance of any study procedures


To advance to the Treatment Phase of the study a subject must not meet any of the following criteria.

1. Evidence of central puberty: Tanner Stage >2 for breast development in girls or testicular volume >4 mL in boys, or random LH >0.3 mIU/mL. Subjects with pubic and/or axillary hair as the only sign of puberty onset will be allowed.

2. Current or history of hepatitis from any etiology, including history of active viral hepatitis A, B, or C.

3. Patients with baseline hepatic impairment are excluded from this trial. To be eligible for this protocol, patients must meet all of the following criteria:

-AST, ALT and Total bilirubin < ULN

-Albumin > LLN

-No evidence of ascites

-No evidence of encephalopathy

4. Abnormalities of liver function developing during the study

5. Abnormal renal function tests, defined as BUN or creatinine >1.5 ULN for age.

6. Significant anemia (hemoglobin < 12 g/dl). If documented to be due to iron deficiency, subjects may be rescreened 3 months after this has been treated.

7. Clinically significant abnormality in the 12-lead electrocardiogram (ECG)

8. A history of a malabsorption syndrome.

9. Evidence of active malignancy.

10. Serious or uncontrolled co-existent disease, including active or uncontrolled infection. Subjects may be rescreened after resolution of any such condition.

11. Concurrent medical condition or disease other than 21-hydroxylase deficiency that may interfere with linear growth or that requires concomitant therapy that is likely to interfere with study procedures or results.

12. Asthma or other condition requiring treatment with systemic corticosteroids within the past 3 months. Asthma treatment with inhaled corticosteroids is permitted.

13. Treatment with potentially hepatotoxic medications (statins); strong inhibitors of CYP3A4 (ketoconazole, itraconazole, clarithromycin, atazanavir, nefazodone, saquinavir, telithromycin, ritonavir, indinavir, nelfinavir, voriconazole), or CYP3A4 inducers (e.g., phenytoin, carbamazepine, rifampin, rifabutin, rifapentine, phenobarbital). CYP2C8 substrates (rosiglitazone, pioglitazone, rapaglinide) and CYP2D6 substrates (dextromethorphan, thioridazine) should be avoided.

14. Treatment with medications to affect puberty or synthesis of sex steroids, including gonadotropin releasing hormone agonists, aromatase inhibitors, or androgen receptor blockers (e.g., flutamide, spironolactone). However, a gonadotropin releasing hormone agonist may be started during the study for treatment-emergent central puberty without disqualifying the subject

15. Treatment with growth hormone at enrollment or during the course of the study.

16. Known allergies, hypersensitivity, or intolerance to abiraterone acetate or its excipients

17. Has received an investigational drug within 4 weeks of the planned first dose of study drug or is currently enrolled in an investigational interventional study.

18. Any condition that, in the opinion of the investigator, would make participation not be in the best interest (eg, compromise the well-being) of the subject or that could prevent, limit, or confound the protocol-specified assessments.

19. Presence or history of cataracts.

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Auchus RJ, Buschur EO, Chang AY, Hammer GD, Ramm C, Madrigal D, Wang G, Gonzalez M, Xu XS, Smit JW, Jiao J, Yu MK. Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014 Aug;99(8):2763-70. doi: 10.1210/jc.2014-1258. Epub 2014 Apr 29.

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Principal Investigator

Referral Contact

For more information:

Deborah P. Merke, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 3-2740
(301) 496-0718

Amy E. Moon
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Building 10
Room 3-2740
10 Center Drive
Bethesda, Maryland 20892
(301) 827-0224

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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