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NCT06306521 · Rady Pediatric Genomics & Systems Medicine Institute

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

(BeginNGS)

What this study is about

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings.

View original scientific description

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.

Interventions

GENETIC

BeginNGS Test

Genomic sequencing that screens for over 400 genetic diseases.

Primary outcome measures

Comparison of the clinical utility of BeginNGS and standard of care (state NBS), defined by the proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention

Time frame: 5 years

The proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention (as per an electronic clinical management system, Genome-to-Treatment, GTRx)

Who can participate

This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.

Inclusion criteria

  • Neonates (\<28 days old) at enrollment sites.
  • Parents must have identified a primary care provider (or group).

Exclusion criteria

  • Neonates whose mother is less than 18 years of age.
  • Neonates who are wards of the state.
  • Neonates whose parent/legal guardian is unable to provide consent.
  • Parents with a home address outside the US or jurisdiction of the enrollment sites.
  • Neonates or fetuses who are ill and in whom enrollment or sampling is anticipated to interfere with healthcare provision at delivery. For example, fetuses or neonates who are likely to require transfer to a higher level of care, such as to a Level IV NICU upon delivery.
  • Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing.
  • Neonates who are not expected to survive the neonatal period.

Where

  • San Diego, California

Related conditions & keywords

Genetic Diseasenewborn screening

Frequently asked questions

What is a clinical trial?

A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.

Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.

Will I be compensated?

Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.

Will I receive a placebo instead of treatment?

When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.

Can I leave a trial if I change my mind?

Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.

How long does a clinical trial last?

Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.

Data: ClinicalTrials.gov · synced Mar 12, 2024 · Source of record for eligibility and locations

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1 of 10000 participants interested
0% interest

See if this study fits

A short prescreen based on this study's listed criteria. A coordinator confirms eligibility — this is not a medical assessment.

Preparing your pre-screening questions…

Study locations

Choose your preferred location, or select flexible during enrollment.

RECRUITING

San Diego

California

Location available

Express your interest

Share your contact details and a study coordinator can follow up about screening.

Secure & Confidential

Your information is protected and will only be shared with the research team.

What participation can include

  • Study-related care provided by the research team
  • Close monitoring by medical professionals
  • Possible compensation for time and travel*
  • The option to withdraw at any time
  • Contributing to medical research that may help future patients

*Compensation varies by study. Confirm details with coordinator.

Typical next steps

  1. 1.Submit this form
  2. 2.Phone screening
  3. 3.In-person assessment if eligible
  4. 4.Begin participation

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Looking for Genetic Disease Treatment in San Diego?

Join others in California exploring innovative treatment options through clinical research

Genetic Disease Treatment Options in San Diego, California

If you're searching for Genetic Disease treatment in San Diego, participating in a clinical research study may provide access to innovative approaches under expert medical supervision. This study is actively recruiting participants in San Diego and surrounding areas.

Clinical trials offer participants the opportunity to receive cutting-edge treatments while contributing to medical research that may help future patients with Genetic Disease. All study-related care is provided at no cost to participants.

Local Sites
1 locations in California
Now Enrolling
Up to 10000 participants
Quick Start
Screening available now

Why Consider a Clinical Trial for Genetic Disease?

Potential Benefits

  • Access to new treatment approaches before public availability
  • Close monitoring by experienced medical professionals
  • Study-related care provided at no cost
  • Contribute to medical research for Genetic Disease

What to Expect

  • Initial screening to determine eligibility
  • Regular check-ups and monitoring visits
  • Possible compensation for time and travel
  • You can withdraw at any time

Frequently Asked Questions About This Genetic Disease Study

Important Clinical Trial Information

This information is provided for educational purposes and does not constitute medical advice. Clinical trial participation involves potential risks and benefits. Eligibility requirements apply and will be assessed during the screening process.

Study identifier: NCT06306521. For complete study details, visit ClinicalTrials.gov. Always consult with your healthcare provider before making decisions about your medical care or participating in clinical research.