Congenital AbnormalitiesNCT00766571
Clinical and Genetic Studies of VACTERL Association
An observational study of Congenital Abnormalities and Birth Defects, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and… Read more about this study
- Who is it for?
- Ages Up to 100 years
- Conditions the study is for
- Congenital Abnormalities, Birth Defects, Congenital Defects
- How many people
- 304 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Sep 2008to 29 Jun 2017
- 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 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- For affected individuals, determination of clinical criteria for inclusion will be determined by prior medical record review before participation. Inclusion criteria may be met in 1 of 3 ways:
- At least 3 features of VACTERL association in an index case OR
- Two features of VACTERL association in an index case plus at least 1 feature of VACTERL association in a relative OR
- At least 2 features of VACTERL association in an index case plus at least 1 other anomaly.
- First degree relatives (parents and/or siblings of affected individuals) of patients with VACTERL association are also eligible to participate in portions of the protocol even if they have no features of VACTERL association.
Who cannot join
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
- Cases that are clearly not in the spectrum of VACTERL association or related to our direct research interests (e.g. referred VACTERL cases that are felt to be related to other syndromes, such as Feingold syndrome, Townes-Brocks syndrome, or Pallister-Hall syndrome, would not be included). In such instances, we would attempt to make referrals to a more appropriate investigator.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling.
Patients with VACTERL association and their parents and siblings may be eligible for this study.
Read more
Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures:
- Physical examination, medical history, electrocardiogram (EKG), blood and urine tests
- Eye examination
- Imaging studies (echocardiogram, x-rays and ultrasound tests)
- Other specialized tests or consultations as indicated
- Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes
- Optional return visit after 2 years for repeat testing and to look for changes over time
Parents of patients have the following procedures:
- Physical examination, medical history, blood tests and x-rays, if needed
- Specialty consultations as indicated
- Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes
- Questionnaires about their child s medical history, growth, behavior and development, therapy and medication
Siblings of patients have the following procedures:
- Physical examination, medical history and blood tests
Read the detailed description
The combination of vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, radial dysplasia and limb anomalies, and renal anomalies, termed VACTERL association, has been used as a clinical descriptor for a specific group of phenotypic manifestations that have been observed to occur together. Depending upon the diagnostic criteria used, the prevalence may be as high as 1 in 6000 live births. VACTERL association is felt to be due to defects in early embryogenesis, and is likely to be genetically heterogeneous. The purpose of the present study is to increase the understanding of the clinical manifestations and genetic causes of VACTERL association through detailed physical, laboratory, and radiological studies. We also plan to examine the spectrum of clinical characteristics in VACTERL association to facilitate early diagnosis and clinical management, including genetic counseling. To accomplish this, we plan to enroll approximately 25-50affected individuals along with their family members for a total of 75-150 total individuals each year, with an enrollment ceiling of 500 affected individuals. Patients and their families will be seen at the NIH clinical center.
- Conditions
- Congenital Abnormalities, Birth Defects, Congenital Defects
- Keywords
- VACTERL Association, VATER Association, Multiple Congenital Anomalies, VACTERL, Congenital Defects, Birth Defects, Congenital Abnormalities
- Medical subject headings
- Congenital Abnormalities, VACTERL association, VATER association, Abnormalities, Multiple
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2008 (estimated)
- Study start29 Sep 2008
- Study completion29 Jun 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Congenital AbnormalitiesStudies 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
- Time perspective
- Other
- Enrolment
- 304 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Maximilian Muenke, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00766571
- Sponsor's protocol ID
- 080224
- Other IDs
- 08-HG-0224
- Status last verified
- 29 Jun 2017
- First submitted
- 3 Oct 2008
- Last updated
- 15 Nov 2019
- Results posted
- No
Publications
Arsic D, Beasley SW, Sullivan MJ. Switched-on Sonic hedgehog: a gene whose activity extends beyond fetal development--to oncogenesis. J Paediatr Child Health. 2007 Jun;43(6):421-3. doi: 10.1111/j.1440-1754.2007.01104.x.
PubMed 17535169Arsic D, Qi BQ, Beasley SW. Hedgehog in the human: a possible explanation for the VATER association. J Paediatr Child Health. 2002 Apr;38(2):117-21. doi: 10.1046/j.1440-1754.2002.00813.x.
PubMed 12030989Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997 Jul 11;71(1):8-15. doi: 10.1002/(sici)1096-8628(19970711)71:13.0.co;2-v.
PubMed 9215761
Study at a glance
From the registry record, last updated by the sponsor on 15 Nov 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Studies of VACTERL Association
- ClinicalTrials.gov ID
- NCT00766571
- Acronym / sponsor ID
- 080224
- Conditions
- Congenital Abnormalities, Birth Defects, Congenital Defects
- Keywords
- VACTERL Association, VATER Association, Multiple Congenital Anomalies, VACTERL, Congenital Defects, Birth Defects, Congenital Abnormalities
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 304 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 29 Sep 2008
- Study completion
- 29 Jun 2017
- First posted
- 6 Oct 2008 (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.
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling.
Patients with VACTERL association and their parents and siblings may be eligible for this study.
Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures:
- Physical examination, medical history, electrocardiogram (EKG), blood and urine tests
- Eye examination
- Imaging studies (echocardiogram, x-rays and ultrasound tests)
- Other specialized tests or consultations as indicated
- Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes
- Optional return visit after 2 years for repeat testing and to look for changes over time
Parents of patients have the following procedures:
- Physical examination, medical history, blood tests and x-rays, if needed
- Specialty consultations as indicated
- Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes
- Questionnaires about their child s medical history, growth, behavior and development, therapy and medication
Siblings of patients have the following procedures:
- Physical examination, medical history and blood tests
Detailed description
The combination of vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, radial dysplasia and limb anomalies, and renal anomalies, termed VACTERL association, has been used as a clinical descriptor for a specific group of phenotypic manifestations that have been observed to occur together. Depending upon the diagnostic criteria used, the prevalence may be as high as 1 in 6000 live births. VACTERL association is felt to be due to defects in early embryogenesis, and is likely to be genetically heterogeneous. The purpose of the present study is to increase the understanding of the clinical manifestations and genetic causes of VACTERL association through detailed physical, laboratory, and radiological studies. We also plan to examine the spectrum of clinical characteristics in VACTERL association to facilitate early diagnosis and clinical management, including genetic counseling. To accomplish this, we plan to enroll approximately 25-50affected individuals along with their family members for a total of 75-150 total individuals each year, with an enrollment ceiling of 500 affected individuals. Patients and their families will be seen at the NIH clinical center.
Study design
- Time perspective
- Other
Who may qualify
- Ages
- Up to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- For affected individuals, determination of clinical criteria for inclusion will be determined by prior medical record review before participation. Inclusion criteria may be met in 1 of 3 ways:
- At least 3 features of VACTERL association in an index case OR
- Two features of VACTERL association in an index case plus at least 1 feature of VACTERL association in a relative OR
- At least 2 features of VACTERL association in an index case plus at least 1 other anomaly.
- First degree relatives (parents and/or siblings of affected individuals) of patients with VACTERL association are also eligible to participate in portions of the protocol even if they have no features of VACTERL association.
Key exclusion criteria (2 listed)
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
- Cases that are clearly not in the spectrum of VACTERL association or related to our direct research interests (e.g. referred VACTERL cases that are felt to be related to other syndromes, such as Feingold syndrome, Townes-Brocks syndrome, or Pallister-Hall syndrome, would not be included). In such instances, we would attempt to make referrals to a more appropriate investigator.
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 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 15 Nov 2019.
- Background: PubMed 17535169Arsic D, Beasley SW, Sullivan MJ. Switched-on Sonic hedgehog: a gene whose activity extends beyond fetal development--to oncogenesis. J Paediatr Child Health. 2007 Jun;43(6):421-3. doi: 10.1111/j.1440-1754.2007.01104.x.
- Background: PubMed 12030989Arsic D, Qi BQ, Beasley SW. Hedgehog in the human: a possible explanation for the VATER association. J Paediatr Child Health. 2002 Apr;38(2):117-21. doi: 10.1046/j.1440-1754.2002.00813.x.
- Background: PubMed 9215761Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997 Jul 11;71(1):8-15. doi: 10.1002/(sici)1096-8628(19970711)71:13.0.co;2-v.
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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.
Maximilian Muenke, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
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 Abnormalities and Birth Defects, run by National Human Genome Research Institute (NHGRI) 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 5 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 15 Nov 2019. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00766571, which also lists 3 linked publications.
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 15 Nov 2019.