Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study

NCT04831099 | Unknown Phase 3

• 1 other identifier: N-of-1 DSD
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

A 38-year old women with a 46,XY disorder of sex development (DSD) based on a 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3) was seen at the department of Internal Medicine-Endocrinology at the Erasmus MC, Rotterdam, the Netherlands. The patient presented with fatigue, concentration problems and feelings of restlessness. In the past, the patient had undergone a gonadectomy at 9 months of age. In a follow-up visit at the outpatient clinic, the patient mentioned that friends with DSD had successfully been treated with testosterone and the patient requested testosterone treatment for her complaints. In the literature, nothing is known about the usefulness of testosterone treatment for women with 17β-HSD3. For other forms of 46,XY DSD like complete androgen insensitivity syndrome (CAIS), limited data are available about testosterone treatment. Two studies have compared the effects of estrogen and testosterone replacement therapy on psychological wellbeing, quality of life (QoL) and sexual function in women with CAIS. The results were not conclusive, as one of them found a positive effect of testosterone replacement therapy on sexual function compared to estrogen, whereas the other study found no differences. In order to evaluate the effect of testosterone treatment independent of a possible placebo effect, the usefulness of testosterone treatment in this individual patient with 17β-HSD3 will be investigated in an N-of-1 trial in order to improve the clinical care for this patient. The primary objective is to determine the efficacy of testosterone treatment for fatigue on an individual level in a patient with 17β-HSD3 as assessed with the Checklist Individual Strength (CIS-20).

Conditions

Disorder of Sex Development, 46,XY

Keywords

17-beta-hydroxysteroid dehydrogenase type 3 deficiency

Outcome Measures

Primary Outcomes (1)

• Fatigue (Checklist of Individual Strength)

  Fatigue is measured with the Checklist of Individual Strength (CIS-20). The CIS-20 consists of 20 questions. The score ranges from 20 - 140. A score of 27-35 means increased fatigue. A score \>35 means extreme fatigue.

  Baseline to 420 days

Secondary Outcomes (5)

• Quality of Life (5-level EQ-5D)

  Baseline to 420 days

• Laboratory levels

  Baseline to 420 days

• Bone density

  Baseline to 420 days

• Goal attainment scaling

  Baseline to 420 days

• Number of adverse events

  Baseline to 450 days

Study Arms (2)

Testosterone

EXPERIMENTAL

Testosterone gel (20 mg/day) for 8 weeks per period.

Drug: Testosterone gel

Placebo

PLACEBO COMPARATOR

Placebo gel (20 mg/day) for 8 weeks per period.

Drug: Placebo

Interventions

Testosterone gel DRUG

The route of administration is transdermal.

Also known as: AndroGel

Testosterone

Placebo DRUG

The route of administration is transdermal

Placebo

Eligibility Criteria

• Age: 38 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• \- N/A

You may not qualify if:

• \- N/A

Sponsors & Collaborators

• Erasmus Medical Center: lead

Study Sites (1)

Erasmus MC

Rotterdam, South Holland, 3015GD, Netherlands

Location

MeSH Terms

Conditions

Disorder of Sex Development, 46,XY

Interventions

Testosterone

Condition Hierarchy (Ancestors)

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; Gonadal Disorders; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Androstenols; Androstenes; Androstanes; Steroids; Fused-Ring Compounds; Polycyclic Compounds; Testosterone Congeners; Gonadal Steroid Hormones; Gonadal Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists

Study Officials

• Laura de Graaff, MD, PhD

  Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laura de Graaff, MD, PhD

CONTACT

+31618843010; l.degraaff@erasmusmc.nl

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: The participant and investigator are blinded. The investigator is also the care provider and investigator.
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Model Details: N-of-1 study: cross-over study in 1 patient with 2 cycles that each consists of 2 periods (one period of placebo and one period of active treatment).

Study Record Dates

• First Submitted: March 26, 2021
• First Posted: April 5, 2021
• Study Start: June 1, 2021
• Primary Completion: July 26, 2022
• Study Completion: July 26, 2022
• Last Updated: April 5, 2021

Record last verified: 2021-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: The data will become available after completion of the study and only upon reasonable request and with permission of the participant.
• Access Criteria: A motivated request.

Locations

NL (1)