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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT00780117
Other study ID # P070305
Secondary ID
Status Completed
Phase N/A
First received October 24, 2008
Last updated July 25, 2012
Start date June 2008
Est. completion date December 2011

Study information

Verified date July 2012
Source Assistance Publique - Hôpitaux de Paris
Contact n/a
Is FDA regulated No
Health authority France: Ministry of Health
Study type Observational

Clinical Trial Summary

Contribute to support hypothesis of relationships between genes involve in oncogenesis and those involve in embryological development.


Description:

CURRARINO syndrome (CS) (OMIM 176450) is a rare congenital disease described in 1981, as the association of, at least, three main clinical features: typical sacral malformation (sickled-shape sacrum or total sacral agenesis below S2), hindgut anomalies and pre-sacral tumor. To date, neurological defects, as tethered cord and/or lipoma of the filum or the conus, are up lighted to be as a fourth major clinical sign.In half of cases, CS is ascribed to heterozygous mutations of the HLXB9 gene (or MNX1 gene, OMIM 142994) located at 7q36, with an autosomal dominant mode of inheritance. The HLXB9 gene is involved in motoneurons and caudal development of the embryo. However, genetic heterogeneity is suspected, since patients without HLXB9 mutation harbour subtle phenotypic variations. Presently, no other locus has been identified. The pre-sacral tumor develops in almost 80% of CS. When it is a teratoma (30% of cases), it may turn into malignancy in 1 to 4 % of cases, according to literature. As far as we know, no clinical, molecular or pathological marker is operational to predict tumoral evolution and give any prognosis. Major aim of this study is to find out any correlation between clinical signs, constitutional and somatic genetic anomalies of HLXB9 gene and other candidate genes, and/or pathological features and tumoral evolution in CS. Evaluation of the pre-sacral tumor evolution is based on local recurrence or distance metastasis after surgical removal. Annual serum alpha-foeto-protein level monitoring is also performed, as the unique marker of teratoma.This study specifically required annual clinical examination and lumbar-sacral MRI imaging, three blood samples at inclusion and an annual blood sample.This multicentric study will last for at least 6 years. Eighty patients will be included and follow up for at least 3 years. Finally, this study may help identify a group of at-risk patients for tumor development and malignant transformation if pre-sacral teratoma. It will also help define objective clinical, radiological, molecular, pathological and/or biological criteria for long lasting survey. In general, it may also contribute to support hypothesis of close relationships between genes involve in oncogenesis and those involve in embryological development.


Recruitment information / eligibility

Status Completed
Enrollment 57
Est. completion date December 2011
Est. primary completion date June 2011
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility Inclusion Criteria:

- At least 1 out of the 4 major signs of CURRARINO syndrome:

1. Sacral agenesis

2. Hindgut malformation or chronic constipation

3. Presacral tumor and/or

4. TETHECORD syndrome and/or lipoma of the filum or the conus

- Anomaly genotyping HLXB9 without clinical expression

Exclusion Criteria:

- Opposition to sign informed consent agreement

Study Design

Observational Model: Cohort, Time Perspective: Prospective


Locations

Country Name City State
France Hôpital Necker-Enfants Malades Pediatric Surgery Department Paris

Sponsors (1)

Lead Sponsor Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary Annual lumbar-sacral MRI is performed one year No
Secondary Pathological tumoral tissue analysis after surgical removal 3 years No
Secondary Annual serum alpha-foeto protein level monitoring one year No
See also
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Completed NCT05182853 - Voiding Disorders in Children After Sacrococcygeal Teratoma Resection