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(352) 733-0111

TECPR2 Obs

  • Status
    Accepting Candidates
  • Age
    18 Months - 12 Years
  • Sexes
    All
  • Healthy Volunteers
    No
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Objective

The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.

Description

A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.

Details

Full study title A Natural History Study in Children with a TECPR2 Mutation
Protocol number OCR38784
ClinicalTrials.gov ID NCT04485221

Eligibility

Inclusion Criteria:

  • Written informed consent (and assent where appropriate) before any study procedures take place;

  • Male or female;

  • 18 months to 12 years old, at enrollment; and

  • Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.

Exclusion Criteria:

  • Subject is unable to comply with study requirements; or

  • Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.

Lead researcher

Participate in a study

Here are some general steps to consider when participating in a research study:

  1. Step
    1

    Contact the research team

    Call or email the research team listed within the specific clinical trial or study to let them know that you're interested. A member of the research team, such as the researcher or study coordinator, will be available to tell you more about the study and to answer any questions or concerns you may have.

    Primary contact

    Barry Byrne
  2. Step
    2

    Get screened to confirm eligibility

    You may be asked to take part in prescreening to make sure you are eligible for a study. The prescreening process ensures it is safe for you to participate. During the prescreening process, you will be asked some questions and you may also be asked to schedule tests or procedures to confirm your eligibility.

  3. Step
    3

    Provide your consent to participate

    If you are eligible and want to join the clinical trial or study, a member of the research team will ask for your consent to participate. To give consent, you will be asked to read and sign a consent form for the study. This consent form explains the study's purpose, procedures, risks, benefits and provides other important information, such as the study team's contact information.

  4. Step
    4

    Participate

    If you decide to participate in a clinical trial or study, the research team will keep you informed of the study requirements and what you will need to do to throughout the study. For some trials or studies, your health care provider may work with the research team to ensure there are no conflicts with other medications or treatments.