Ignite Creation Date:
2024-05-05 @ 12:08 PM
Last Modification Date:
2024-10-26 @ 9:20 AM
Study NCT ID:
NCT00250159
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2005-11-05
Brief Title:
Natural History Study of Patients With Excess Androgen
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History Study of Patients With Excess Androgen
Status:
RECRUITING
Status Verified Date:
2024-08-19
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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 patients 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
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 patients 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 06-CH-0011 | None | None | None |