Congenital DisordersNCT00268060
Infant Medical Records: Case Report Proposal
An observational study of Congenital Disorders, run by Children's Healthcare of Atlanta at 1 site in United States.
Trial summary
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. The purpose of this study is to describe the clinical course and outcome of a patient with congenital long QT syndrome (LQTS). Read more about this study
- Who is it for?
- Ages Up to 21 years, men only
- Conditions the study is for
- Congenital Disorders
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2004to not given
- 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 21 years
- Men only
- No healthy volunteers
- Child, Adult
Who may be able to join
- Congenital long QT Syndrome single case report
Who cannot join
- Single case report
Trial locations and contacts
1 site in 1 country.
United States1 site
Chldren's Healthcare of Atlanta
Atlanta, Georgia, 30322
About this study
Official title: Baby R. Case Report Proposal
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS.
The purpose of this study is to describe the clinical course and outcome of a patient with congenital long QT syndrome (LQTS).
Read the detailed description
It has been previously reported that 2:1 AVB in neonatal LQTS seems preferentially associated with HERG mutations . It has also been reported in association with the SCN5A gene. We report on a neonate with congenital LQTS and congenital complete heart block who experienced frequent episodes of torades des pointe and ventricular tachycardia, which, over the first 2 days of life, was recalcitrant to traditional therapy of beta-blockers and other antiarrhythmics. Eventually hypotension necessitated the use of an epinephrine infusion, which halted the ventricular tachyarrhythmias. A pacemaker was implanted once the infant was stable and, currently, he is thriving. Genetic analysis revealed a HERG mutation.
For this study, we will need access to the infant's inpatient and outpatient medical records at Children's Healthcare of Atlanta at Egleston Children's Hospital and Sibley Heart Center Cardiology to include his age, date of birth, medical record number, inpatient labs, inpatient echo reports, outpatient echo reports, inpatient and outpatient EKG's, inpatient pharmacy records, the results of his genetic analysis, his history and physical, transfer notes, daily progress notes, consultation reports and operative reports from his admission beginning 9/30/04.
- Conditions
- Congenital Disorders
- Keywords
- pediatric, cardiac, Long QT Syndrome, Pacemaker, Herg mutation
- Medical subject headings
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Long QT Syndrome
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Dec 2005 (estimated)
- Study startSep 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital DisordersStudies of the same condition, open and under way.
- 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
- Defined population
- Time perspective
- Retrospective
- Enrolment
- 1 participants
Sponsor and investigators
- Lead sponsor
- Children's Healthcare of Atlanta
- Sponsor type
- University, hospital or other
- Investigators
- Tracy Froehlich, MD, Principal investigator, Children's Healthcare of Atlanta
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00268060
- Sponsor's protocol ID
- 05-050
- Status last verified
- May 2007
- First submitted
- 20 Dec 2005
- Last updated
- 7 May 2007
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 May 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Baby R. Case Report Proposal
- ClinicalTrials.gov ID
- NCT00268060
- Acronym / sponsor ID
- 05-050
- Conditions
- Congenital Disorders
- Keywords
- pediatric, cardiac, Long QT Syndrome, Pacemaker, Herg mutation
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 1 participants
- Lead sponsor
- Children's Healthcare of AtlantaUniversity, hospital or other
- Study start
- Sep 2004
- First posted
- 22 Dec 2005 (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.
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS.
The purpose of this study is to describe the clinical course and outcome of a patient with congenital long QT syndrome (LQTS).
Detailed description
It has been previously reported that 2:1 AVB in neonatal LQTS seems preferentially associated with HERG mutations . It has also been reported in association with the SCN5A gene. We report on a neonate with congenital LQTS and congenital complete heart block who experienced frequent episodes of torades des pointe and ventricular tachycardia, which, over the first 2 days of life, was recalcitrant to traditional therapy of beta-blockers and other antiarrhythmics. Eventually hypotension necessitated the use of an epinephrine infusion, which halted the ventricular tachyarrhythmias. A pacemaker was implanted once the infant was stable and, currently, he is thriving. Genetic analysis revealed a HERG mutation.
For this study, we will need access to the infant's inpatient and outpatient medical records at Children's Healthcare of Atlanta at Egleston Children's Hospital and Sibley Heart Center Cardiology to include his age, date of birth, medical record number, inpatient labs, inpatient echo reports, outpatient echo reports, inpatient and outpatient EKG's, inpatient pharmacy records, the results of his genetic analysis, his history and physical, transfer notes, daily progress notes, consultation reports and operative reports from his admission beginning 9/30/04.
Study design
- Observational model
- Defined population
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 21 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- Congenital long QT Syndrome single case report
Key exclusion criteria (1 listed)
- Single case report
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
Not reported in the source record.
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 May 2007.
Related trials for Congenital Disorders
RecruitingPhase 1
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Not yet recruiting
Executive Function Play Opportunities for Children With Down Syndrome
Down Syndrome, Trisomy 21
Not yet recruitingPhase 1/2
4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma
Neuroblastoma
RecruitingObservational study
Southeast Asian Brugada Syndrome Cohort
Brugada Syndrome
Not yet recruitingObservational study
Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
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.
Tracy Froehlich, MD principal investigator
Children's Healthcare of Atlanta
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 Congenital Disorders, run by Children's Healthcare of Atlanta 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 1 inclusion and 1 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: stopped early, as of the sponsor's last update on 7 May 2007. 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 was stopped early. Results are not available in the source record.
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.
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 7 May 2007.