Heterotaxy SyndromeNCT01929967
Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data
An observational study of Heterotaxy Syndrome, run by Boston Children's Hospital at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 12 years
- Conditions the study is for
- Heterotaxy Syndrome
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2013to Jun 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 12 years
- All sexes
- No healthy volunteers
- Child
Study population: Patients with a diagnosis of heterotaxy syndrome from inpatient and outpatient Cardiology settings at Boston Children's Hospital
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hospital
Boston, Massachusetts, 02115
About this study
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.
- Conditions
- Heterotaxy Syndrome
- Keywords
- Heterotaxy syndrome, Asplenia, Polysplenia
- Medical subject headings
- Heterotaxy Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Howell Jolly Body quantification
Measured: At time of recruitment
IgM Memory B Cell quantification
Measured: At time of recruitment
Secondary outcomes (1)
Results of phone questionnaire of parents documenting infectious symptoms and sequelae
Measured: Once every 2 weeks for 12 weeks following enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2013 (estimated)
- Study startAug 2013
- Primary completionJun 2014
- Study completionJun 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Heterotaxy SyndromeStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Litron Laboratories
- Responsible party
- Principal investigator, Terence Prendiville, Boston Children's Hospital
- Investigators
- Terence Prendiville, MB BCh BAO, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01929967
- Sponsor's protocol ID
- IRB-P00007001
- Status last verified
- Jun 2014
- First submitted
- 23 Aug 2013
- Last updated
- 27 Jun 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data
- ClinicalTrials.gov ID
- NCT01929967
- Acronym / sponsor ID
- IRB-P00007001
- Conditions
- Heterotaxy Syndrome
- Keywords
- Heterotaxy syndrome, Asplenia, Polysplenia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Litron Laboratories
- Study start
- Aug 2013
- Primary completion
- Jun 2014 (actual)
- Study completion
- Jun 2014 (actual)
- First posted
- 28 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- Up to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Patients with a diagnosis of heterotaxy syndrome from inpatient and outpatient Cardiology settings at Boston Children's Hospital
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Howell Jolly Body quantification
Time frame: At time of recruitment
IgM Memory B Cell quantification
Time frame: At time of recruitment
1 secondary outcome
Results of phone questionnaire of parents documenting infectious symptoms and sequelae
Time frame: Once every 2 weeks for 12 weeks following enrollment
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2014.
Related trials for Heterotaxy Syndrome
RecruitingObservational study
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Heterotaxy Syndrome, Congenital Heart Defects
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Terence Prendiville, MB BCh BAO principal investigator
Boston Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Heterotaxy Syndrome, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Jun 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Howell Jolly Body quantification (time frame: At time of recruitment). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jun 2014.