Long-Term Follow-Up of Survivors of Pediatric Cushing Disease

NCT03831958 | Recruiting

• 2 other identifiers: 19005119-CH-0051
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

Background: The pituitary gland produces hormones. A tumor in this gland can cause it to produce too much of the hormone cortisol. Too much cortisol in the body causes Cushing disease. This disease causes many problems. Some of these problems might persist after the disease is cured. Objective: To find out the long-term effects of exposure to high levels of cortisol during childhood and adolescence. Eligibility: People ages 10-42years who were diagnosed with Cushing disease before age 21 and are now cured and have normal or low cortisol levels People related to someone with Cushing disease Design: Participants will be screened with a medical history. Participants will complete an online survey. This will include questions about their or their child s physical and mental health. All participants will be seen at 5 -year intervals after cure of Cushing disease (5yr, 10yr, 15yr, 20yr (last visit)) Participants who have a relative with Cushing disease will have a medical history and blood tests or cheek swabs. Participants who have the disease will have: Physical exam Blood tests Cheek swab DXA scan: A machine will x-ray the participant s body to measure bone mineral content. For participants who are still growing, a hand x-ray Participants with the disease may also have: Hormone stimulation test: Participants will get a hormone or another substance that will be measured. Serial hormone sampling: Participants blood will be measured several times through a thin plastic tube in an arm vein. Urine tests: Participants urine may be collected over 24 hours. MRI: Participants may have a dye injected into a vein. They will lie on a table that slides into a machine. The machine will take pictures of the body.

Conditions

Cushing Disease

Keywords

Body Mass Index Z Score; Adult Height; Endocrine Function; Neuropsychological Outcome; Metabolic Syndrome; Natural History

Outcome Measures

Primary Outcomes (1)

• Difference in body mass index z-score of subjects previously treated for Cushing disease compared to general population

  The primary outcome measure of the study is the difference in the Body Mass Index (BMI) z-score of the patients previously treated for pediatric CD compared to the general population, as calculated by data derived from the NHANES study.

  baseline, 5, 10, 15, 20 years

Secondary Outcomes (1)

• Prevalence of endocrine and non-endocrine abnormalities

  baseline, 5, 10, 15, 20 years

Study Arms (2)

Family member

Family member of survivor of pediatric Cushing disease

Subjects

survivor of pediatric Cushing disease

Eligibility Criteria

• Age: 2 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population will consist of patients that were previously successfully treated for CD before the age of 21 years. We aim to identify these patients through review of our current protocol 97-CH-0076 on Clinical and genetic investigation of pituitary and hypothalamic tumors , which has been recruiting patients since 1997. We will also accept patients who have been diagnosed and successfully treated for pediatric CD at outside institutions after reviewing the medical records and confirming their diagnosis. The patients must be normocortisolemic at the time of their recruitment. Family members of subjects who are survivors of pediatric Cushing disease will be invited to participate in the DNA/linkage analysis study.

You may qualify if:

• Males and females 10-42 years old (subjects) who were previously diagnosed and had successful treatment of CD before the age of 21 years old. Patients who have undergone therapies other than surgical resection (such as radiation or medical treatment) will be eligible to participate.
• Normocortisolemia or hypocortisolemia at the time of the study (as documented within past 6 months of recruitment) documented as urine free cortisol or midnight/afternoon serum or salivary cortisol levels within or below the normal range or documented panhypopituitarism (on glucocorticoid replacement).
• Patients or a legal guardian (in case of cognitively impaired adults or children) must provide assent/consent at the time of the recruitment.
• Family members (2- 90 yrs.) of patients with a family history of pituitary tumors and who agree to participate in the DNA/linkage analysis study.

You may not qualify if:

• Pregnancy
• Patients with any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in their best interest, will be excluded from the on-site visit of the study. Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded. They will still be offered the opportunity to participate in the online questionnaire part of the study.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• Stratakis CA. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics. Endocrinol Metab Clin North Am. 2016 Jun;45(2):311-28. doi: 10.1016/j.ecl.2016.01.006.

  PMID: 27241967 BACKGROUND

• Davies JH, Storr HL, Davies K, Monson JP, Besser GM, Afshar F, Plowman PN, Grossman AB, Savage MO. Final adult height and body mass index after cure of paediatric Cushing's disease. Clin Endocrinol (Oxf). 2005 Apr;62(4):466-72. doi: 10.1111/j.1365-2265.2005.02244.x.

  PMID: 15807878 BACKGROUND

• Keil MF, Graf J, Gokarn N, Stratakis CA. Anthropometric measures and fasting insulin levels in children before and after cure of Cushing syndrome. Clin Nutr. 2012 Jun;31(3):359-63. doi: 10.1016/j.clnu.2011.11.007. Epub 2011 Dec 7.

  PMID: 22154461 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Pituitary ACTH Hypersecretion; Metabolic Syndrome

Condition Hierarchy (Ancestors)

Hyperpituitarism; Pituitary Diseases; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Endocrine System Diseases; Insulin Resistance; Hyperinsulinism; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Deborah P Merke, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Deborah P Merke, M.D.

CONTACT

(301) 496-0718; dmerke@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 5, 2019
• First Posted: February 6, 2019
• Study Start: March 4, 2019
• Primary Completion (Estimated): January 3, 2040
• Study Completion (Estimated): January 3, 2040
• Last Updated: April 21, 2026

Record last verified: 2026-04-14

Locations

US (1)