Incidence of cCPHD in Denmark - a National Observational Study

NCT05334563 | Unknown DMC

• 1 other identifier: IcCPHD
• Study Type: observational
• Target: 127
• Locations: 1 country
• Sites: 1

Brief Summary

The pituitary gland is a small pea-sized gland that produces a variety of important hormones. Some children are born with a deficient production of two or more pituitary hormones. This rare and potentially severe disease is called congenital combined pituitary hormone deficiency (cCPHD). cCPHD can cause many different symptoms, some of which appear shortly after birth and others later in childhood. Symptoms that appear shortly after birth are e.g., development of very low blood sugar, disturbances in the salt balance, and severe dehydration, whereas symptoms that appear later in life are short stature, missing pubertal development, fatigue, and sensitiveness to cold. Fortunately, it is possible to replace the missing hormones. Currently, it is unknown how common cCPHD is. Therefore, the investigators wish to examine 1) how many children are diagnosed with cCPHD before the age of 18 years, 2) how many children are diagnosed with cCPHD at age \<1 year, 1-8 years, 9-17 years, and 3) the patients' hormone deficiency characteristics and brain MRI scans. The investigators will identify the patients by searching for diagnosis codes used for pituitary disease and pituitary malformations in the Danish National Patient Registry and locally at the four hospitals approved for the treatment of cCPHD in children. Through the searches, the investigators expect to identify approximately 1500 patients. The investigators will then review the hospital files of all identified patients to exclude patients with only one hormone deficiency and patients with an acquired cause of the disease. The investigators aim to include all cCPHD patients in Denmark born in the period 1996 and 2020.

Conditions

Combined Pituitary Hormone Deficiency Genetic Form; Combined Pituitary Hormone Deficiency

Keywords

Combined pituitary hormone deficiency; Congenital combined pituitary hormone deficiency; Congenital multiple pituitary hormone deficiency; Incidence of pituitary hormone deficiency

Outcome Measures

Primary Outcomes (1)

• The incidence of congenital combined pituitary hormone deficiency in Denmark diagnosed before age 18 years.

  Incidence per 100.000 live births and incidence rate per 1 million live births per year

  1996 to 2020

Secondary Outcomes (2)

• The incidence of congenital combined pituitary hormone deficiency in Denmark diagnosed at age <1 year, 1-8 years, and 9-17 years.

  1996 to 2020

• Hormone deficiency characteristics and brain MRI abnormalities in the congenital combined pituitary hormone deficiency patients

  1996 to 2020

Eligibility Criteria

• Age: 1 Day - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study aims to include all congenital combined pituitary hormone deficiency patients in Denmark born between January 1, 1996, and December 31, 2020, identified through the ICD-10 diagnosis code searches in the Danish National Patient Registry and locally at the four highly specialized hospitals.

You may qualify if:

• Born between January 1, 1996, and December 31, 2020.
• Registered in Danish National Patient Registry or locally at Hans Christian Andersen Children´s Hospital, Odense University Hospital, Department of Growth and Reproduction, Rigshospitalet, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital or Department of Pediatrics, Aalborg University Hospital with an ICD-10 diagnosis code E23·0-E23·9 (hypofunction and other disorders of pituitary) and/or Q89·2G (congenital malformation of pituitary) before age 15 years.
• Validated secondary/tertiary deficiency of two pituitary hormones before age 18 years.

You may not qualify if:

• ICD-10 diagnosis codes indicating acquired PHD.
• No available hospital files.
• Less than two documented secondary/tertiary hormone deficiencies.
• Acquired CPHD.

Sponsors & Collaborators

• Odense University Hospital: lead
• Rigshospitalet, Denmark: collaborator
• Aalborg University Hospital: collaborator
• Aarhus University Hospital: collaborator

Study Sites (1)

HCA Research, Odense University Hospital

Odense, 5000, Denmark

Location

Related Publications (16)

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  PMID: 19837867 BACKGROUND

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  PMID: 9006427 BACKGROUND

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  PMID: 18226739 BACKGROUND

• Jakobsen LK, Jensen RB, Birkebaek NH, Hansen D, Christensen AR, Bjerrum MC, Christesen HT. Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark-A National Observational Study. J Clin Endocrinol Metab. 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198.

  PMID: 37043518 DERIVED

MeSH Terms

Conditions

Combined Pituitary Hormone Deficiency

Study Officials

• Henrik T Christesen, ph.d.

  Hans Christian Andersen Children´s Hospital, Odense University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical professor of Medicine

Study Record Dates

• First Submitted: April 12, 2022
• First Posted: April 19, 2022
• Study Start: February 1, 2021
• Primary Completion: March 8, 2022
• Study Completion: August 1, 2022
• Last Updated: July 7, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Proposals can be submitted up to three years following article publication and should be directed to henrik.christesen@rsyd.dk.
• Access Criteria: Approval by the Region of Southern Denmark.

Locations

DK (1)