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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00780117
First received: October 24, 2008
Last updated: July 25, 2012
Last verified: July 2012
  Purpose

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


Condition
CURRARINO Syndrome
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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Pathological tumoral tissue analysis after surgical removal [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  • Annual serum alpha-foeto protein level monitoring [ Time Frame: one year ] [ Designated as safety issue: No ]

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

specialized consultations in the currarino syndrom network

Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00780117

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

No publications provided

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

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

Additional relevant MeSH terms:
Teratoma
Digestive System Abnormalities
Syringomyelia
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms
Digestive System Diseases
Congenital Abnormalities
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on July 20, 2014