Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

June 26, 2014 updated by: Terence Prendiville, Boston Children's Hospital

The investigators aim with this study is to investigate the mechanisms of immune deficiency in patients with heterotaxy syndrome through the use of novel biomarkers and a prospective questionnaire survey documenting the burden of infectious sequelae following enrollment. It is known that patients with under-active spleens (functional asplenia or hyposplenia) secondary to other (non-cardiac) conditions such as Sickle Cell Disease or Inflammatory Bowel Disease have a characteristic paucity of a B cell sub-class known as IgM memory B cell. This specific sub-class of B cell normally matures in the spleen and in those with an improperly functioning spleen a significant deficiency of this B cell class is seen on flow cytometry.

Similarly, these same patients are noted to have increased amounts of 'junk' DNA / nuclear remnant in their red cells. This is seen on microscopy as a dark particle inside the red cell and is termed a Howell Jolly Body (normally less than 2% of red cells have these dark particles present). Part of a functioning spleen's normal task is to rid the blood of red cells that contain nuclear remnants and an under-active spleen gets behind on this task with a build-up of Howell Jolly Bodies in red cells present in the bloodstream. Flow cytometry can very quickly and accurately quantify Howell Jolly Bodies as well as IgM memory B cells from a small (~1.5cc) sample of blood. Normal IgM memory B cell ranges are known for healthy children from infancy onwards allowing interpretation of results against normative data ranges.

The investigators aim to enroll 10 patients in this pilot study who have a diagnosis of heterotaxy syndrome (both asplenia and polysplenia) and to prospectively follow them after obtaining the initial biomarker sample. The family will be contacted once every two weeks for a period of 12 weeks and asked a series of simple questions taking approximately 5 minutes on any recent infectious sequelae or symptoms. The questions will elucidate history of minor illness such as low-grade fever or cough to more significant events such as admission for in-patient antibiotic therapy of bacterial sepsis. Ultimately, with this pilot study, the investigators hope to obtain sufficient data to support funding applications for a larger, multi-center trial that will allow us to develop biomarker thresholds for future risk of sepsis.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

No older than 8 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with a diagnosis of heterotaxy syndrome from inpatient and outpatient Cardiology settings at Boston Children's Hospital

Description

Inclusion Criteria:

  • Diagnosis of heterotaxy syndrome, as objectively defined by visceral heterotaxy (malrotation, interrupted inferior vena cava) with either documented polysplenia or asplenia by radiological imaging.
  • 0-12 years old.

Exclusion Criteria:

  • Other known immunodeficiency or hyposplenic states (22q11, hypogammaglobulinemia, sickle hemoglobinopathy, liver cirrhosis or portal hypertension, organ transplantation, Fanconi syndrome, HIV or AIDS, chronic corticosteroid use, cancer, chemotherapy or other immunomodulating drug exposure, Addison's disease or pan-hypopituitarism, surgical splenectomy).
  • Red blood cell transfusion within the last 90 days as the donated red blood cells may interfere with calculation of the subject's Howell Jolly Body count. Patient enrollment will be deferred until 90 days has elapsed, assuming other eligibility requirements are met.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Heterotaxy syndrome
Patients with a diagnosis of heterotaxy syndrome, as objectively defined by visceral heterotaxy (malrotation, interrupted inferior vena cava) with either documented polysplenia or asplenia by radiological imaging

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Howell Jolly Body quantification
Time Frame: At time of recruitment
At time of recruitment
IgM Memory B Cell quantification
Time Frame: At time of recruitment
At time of recruitment

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Results of phone questionnaire of parents documenting infectious symptoms and sequelae
Time Frame: Once every 2 weeks for 12 weeks following enrollment
Once every 2 weeks for 12 weeks following enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Boston Children's Hospital

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Litron Laboratories

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Terence Prendiville, MB BCh BAO, Boston Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 1, 2013

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 1, 2014

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
June 1, 2014

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 23, 2013

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 27, 2013

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
August 28, 2013

Study Record Updates

Last Update Posted (Estimate)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 27, 2014

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 26, 2014

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • IRB-P00007001

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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