Trial record 1 of 6 for:    heterotaxy
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Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

This study is currently recruiting participants.
Verified February 2014 by Children's Hospital Boston
Sponsor:
Collaborator:
Litron Laboratories
Information provided by (Responsible Party):
Terence Prendiville, Children's Hospital Boston
ClinicalTrials.gov Identifier:
NCT01929967
First received: August 23, 2013
Last updated: February 2, 2014
Last verified: February 2014
  Purpose

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.


Condition
Heterotaxy Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

Resource links provided by NLM:


Further study details as provided by Children's Hospital Boston:

Primary Outcome Measures:
  • Howell Jolly Body quantification [ Time Frame: At time of recruitment ] [ Designated as safety issue: No ]
  • IgM Memory B Cell quantification [ Time Frame: At time of recruitment ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Results of phone questionnaire of parents documenting infectious symptoms and sequelae [ Time Frame: Once every 2 weeks for 12 weeks following enrollment ] [ Designated as safety issue: No ]

Estimated Enrollment: 10
Study Start Date: August 2013
Estimated Study Completion Date: July 2014
Estimated Primary Completion Date: July 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

  Eligibility

Ages Eligible for Study:   up to 12 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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

Criteria

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.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01929967

Contacts
Contact: Terence Prendiville, MB, BCh, BAO 410-624-8987 terence.prendiville@cardio.chboston.org
Contact: Jennifer Kupiec, MPH 617-919-4756 jennifer.kupiec@cardio.chboston.org

Locations
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Terence Prendiville, MB, BCh, BAO    410-624-8987    terence.prendiville@cardio.chboston.org   
Contact: Jennifer Kupiec, MPH    617-919-4756    jennifer.kupiec@cardio.chboston.org   
Principal Investigator: Terence Prendiville, MB, BCh, BAO         
Sponsors and Collaborators
Children's Hospital Boston
Litron Laboratories
Investigators
Principal Investigator: Terence Prendiville, MB BCh BAO Boston Children's Hospital
  More Information

No publications provided

Responsible Party: Terence Prendiville, Pediatric Cardiology Fellow, Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT01929967     History of Changes
Other Study ID Numbers: IRB-P00007001
Study First Received: August 23, 2013
Last Updated: February 2, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Children's Hospital Boston:
Heterotaxy syndrome
Asplenia
Polysplenia

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases

ClinicalTrials.gov processed this record on April 16, 2014