New York, NYNCT06555965Now EnrollingIRB Ready

Genetic Disease Clinical Trial in New York, NY

Access cutting-edge genetic disease treatment through this clinical trial at a research site in New York. Study-provided care at no cost to qualified participants.

Sponsored by Children's Hospital of Philadelphia

Quick Self-Assessment

See if you qualify for this New York location

Preparing your pre-screening questions…

Expert Care in New York

Access genetic disease specialists at no cost

IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related genetic disease treatment provided free

Apply for This New York Location

Check if you qualify for this genetic disease clinical trial in New York, NY

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

Why Participate?

  • No-Cost Study Care

  • Local to New York

    Convenient for NY residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit New York site if eligible
  4. 4Begin participation

About This Genetic Disease Study in New York

The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.

Sponsor: Children's Hospital of Philadelphia

Who Can Participate

Inclusion Criteria

Male or female of any age.
Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory.

Exclusion Criteria

The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1.
The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study.
History of intraventricular hemorrhage, structural brain deficit or congenital heart disease
The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.
Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in New York?

Yes, this clinical trial (NCT06555965) has an active research site in New York, NY that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Genetic Disease Treatment Options in New York, NY

If you're searching for genetic disease treatment options in New York, NY, this clinical trial (NCT06555965) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our New York research site is actively enrolling participants for this clinical trial. You'll receive care from experienced genetic disease specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all genetic disease clinical trials near you to find additional studies recruiting in your area.

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Secure · Expert Care · New York, NY