Genetic Results for Intersex Conditions

Overseen By Sarah Schlegel, MD

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Boston Children's Hospital

Disqualifiers: Inability to provide informed consent

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

300 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This study seeks to identify genetic causes of conditions that affect the gonads and genitals, and to study the impact on families of receiving genetic results.

Do I need to stop taking my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications.

How does this treatment for intersex conditions differ from other treatments?

This treatment is unique because it focuses on genetic diagnosis and potential gene replacement therapy, which can provide a more personalized approach compared to traditional hormone replacement or surgical interventions. It aims to address the underlying genetic causes of intersex conditions, offering a more targeted and potentially effective solution. ^{1 2 3 4 5}

What data supports the effectiveness of the treatment Return of Genetic Results for intersex conditions?

Research shows that using next-generation sequencing (NGS) for genetic testing in intersex conditions can improve diagnosis and management by identifying specific genetic causes, which helps tailor patient care. This approach has been effective in confirming diagnoses in a significant number of patients, leading to better management strategies. ^{1 5 6 7 8}

Who Is on the Research Team?

Yee-Ming Chan, MD, PhD

Principal Investigator

Boston Children's Hospital

Are You a Good Fit for This Trial?

This trial is for individuals with unexplained abnormalities of the genitals or gonads, such as hypospadias or ambiguous genitalia. Participants must have had these conditions confirmed by physical exam or imaging and lack a diagnosis from standard clinical evaluations.

Inclusion Criteria

I have unexplained abnormalities in my reproductive organs.

Exclusion Criteria

Inability to provide informed consent

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Sample Collection and Genetic Testing

Participants provide DNA samples for genetic testing related to DSD/hypospadias. Clinical records are reviewed, and a tissue bank is built.

Ongoing

Return of Genetic Results and Questionnaire Completion

Genetic results are returned to parents/guardians, who complete questionnaires at enrollment, immediately after receiving results, and 3 months later.

3 months

Follow-up

Participants are monitored for psychological and relational outcomes, such as decision regret, anxiety, and quality of life, 3 months after receiving genetic results.

3 months

What Are the Treatments Tested in This Trial?

Interventions

• Return of Genetic Results

Trial Overview The study aims to find genetic reasons behind different sex development conditions and hypospadias. It also looks at how families are affected when they receive genetic information about these conditions.

How Is the Trial Designed?

Group I: Genetic Testing Experimental Treatment 1 Intervention

Subjects will provide a DNA sample, which will be screened for variants in genes related to DSD/hypospadias. Probands/parents who wish to receive results of genetic testing related to DSD/hypospadias will receive these results directly from the research study. Parents who receive results of genetic testing for probands 17 years old or younger will complete questionnaires at the time of enrollment, right after receiving genetic results, and 3 months after receiving genetic results.

Who Is Running the Clinical Trial?

Boston Children's Hospital

Lead Sponsor

Trials

801

Recruited

5,584,000+

Citations

1. England pubmed.ncbi.nlm.nih.gov

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). [2020]

2. England pubmed.ncbi.nlm.nih.gov

XY females: revisiting the diagnosis. [2006]

3. United States pubmed.ncbi.nlm.nih.gov

High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach. [2022]

4. Australia pubmed.ncbi.nlm.nih.gov

Advances and challenges with intersex disorders. [2019]

5. United States pubmed.ncbi.nlm.nih.gov

Ambiguous genitalia--etiology, diagnosis, and therapy. [2010]

6. Spain pubmed.ncbi.nlm.nih.gov

[Diagnosis and surgical treatment for male pseudohermaphroditism in a multidisciplinary unit of intersexual conditions]. [2010]

7. Germany pubmed.ncbi.nlm.nih.gov

True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. [2019]

8. Germany pubmed.ncbi.nlm.nih.gov

Aetiological diagnosis of male sex ambiguity: a collaborative study. [2019]