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Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO Syndrome (Currarino)

This study has been completed.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: October 24, 2008
Last updated: July 25, 2012
Last verified: July 2012
Contribute to support hypothesis of relationships between genes involve in oncogenesis and those involve in embryological development.

Sacrococcygeal Teratoma
Presacral Mass

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study.

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Annual lumbar-sacral MRI is performed [ Time Frame: one year ]

Secondary Outcome Measures:
  • Pathological tumoral tissue analysis after surgical removal [ Time Frame: 3 years ]
  • Annual serum alpha-foeto protein level monitoring [ Time Frame: one year ]

Biospecimen Retention:   Samples With DNA
Pathological tumoral tissue analysis after surgical removal · Annual serum alpha-foeto protein level monitoring

Enrollment: 57
Study Start Date: June 2008
Study Completion Date: December 2011
Primary Completion Date: June 2011 (Final data collection date for primary outcome measure)
Detailed 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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
specialized consultations in the currarino syndrom network

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

  Contacts and Locations
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Please refer to this study by its identifier: NCT00780117

Hôpital Necker-Enfants Malades Pediatric Surgery Department
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Celia CRETOLLE, MD, PhD Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT00780117     History of Changes
Other Study ID Numbers: P070305
Study First Received: October 24, 2008
Last Updated: July 25, 2012

Keywords provided by Assistance Publique - Hôpitaux de Paris:
CURRARINO syndrome
Sacrococcygeal teratoma
HLXB9 (MNX1) gene
Alpha foeto protein
Prognosis factors

Additional relevant MeSH terms:
Digestive System Abnormalities
Pathologic Processes
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Digestive System Diseases
Congenital Abnormalities
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases processed this record on May 25, 2017