Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)

NCT00392756 | Completed Phase 1 DMC

• 2 other identifiers: U54HD028138-0245U54HD028138
• Study Type: interventional
• Target: 624
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the study is to examine how Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) affect reproductive hormones. These disorders are caused by a defect in Gonadotropin Releasing Hormone (GnRH) secretion. GnRH is a hormone released by a small gland in the brain called the hypothalamus. When GnRH is released, it signals another gland in the brain, the pituitary, to secrete the reproductive hormones that influence sex hormone (testosterone, estrogen) levels and gamete (sperm, egg cell) production. This study involves a detailed evaluation and 24-48 hours stay at the hospital. In this study, males and females ages 16 and older with IHH have a detailed evaluation which involves an overnight study at the hospital. Some men (18 years and older) may continue on to receive treatment with pulsatile GnRH. This treatment replaces the hormone which is absent in IHH and results in normalized testosterone and typically is effective in developing fertility.

Conditions

Kallmann Syndrome; Hypogonadotropic Hypogonadism; GnRH Deficiency

Keywords

Kallmann Syndrome; Hypogonadotropic Hypogonadism; GnRH deficiency; Pulsatile GnRH

Outcome Measures

Primary Outcomes (1)

• endogenous LH secretion pattern

  8 to 24 hours

Secondary Outcomes (2)

• testicular volume

  up to 2 years

• sperm count

  up to 2 years

Study Arms (2)

off treatment

NO INTERVENTION

Subjects undergo the baseline evaluation off treatment

GnRH Treatment

EXPERIMENTAL

Subjects receive long term pulsatile GnRH therapy

Drug: gonadotropin releasing hormone (GnRH)

Interventions

gonadotropin releasing hormone (GnRH) DRUG

pulsatile GnRH is delivered to adult men (18+ yrs) via portable microinfusion pump. A small dose (30 microliters) is delivered subcutaneously every 120 minutes. The initial dose is 25 ng/Kg which is increased until normal serum testosterone levels are achieved.

GnRH Treatment

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• adolescent boys (age 16-17 years) and adult male individuals (age 18 years and older) with a single serum sample demonstrating low testosterone in association with low or inappropriately normal gonadotropin levels
• adolescent girls (age 16-17 years) and adult female individuals (age 18 years and older) with a single serum sample demonstrating low estradiol (estrogen) in association with low or inappropriately normal gonadotropin levels
• suitable male and female hypogonadotropic hypogonadal subjects

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114-2696, United States

Location

Related Publications (38)

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MeSH Terms

Conditions

Kallmann Syndrome; Hypogonadism

Interventions

Gonadotropin-Releasing Hormone

Condition Hierarchy (Ancestors)

Disorder of Sex Development, 46,XY; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Pituitary Hormone-Releasing Hormones; Hypothalamic Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Neuropeptides; Peptides; Amino Acids, Peptides, and Proteins; Oligopeptides; Nerve Tissue Proteins; Proteins

Study Officials

• Stephanie B Seminara, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, Harvard Reproductive Endocrine Sciences Center

Study Record Dates

• First Submitted: October 25, 2006
• First Posted: October 26, 2006
• Study Start: April 1, 1989
• Primary Completion: May 16, 2019
• Study Completion: May 16, 2019
• Last Updated: July 11, 2022

Record last verified: 2022-07

Locations

US (1)