Status:

TERMINATED

Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population

Lead Sponsor:

National Human Genome Research Institute (NHGRI)

Conditions:

Neural Tube Defects (NTDs)

Facial Cleft Defect

Eligibility:

All Genders

Up to 85 years

Brief Summary

In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects...

Detailed Description

In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA:
  • Eligible participants are children and adults with an NTD and their parents residing in the Republic of Ireland, Northern Ireland and the United Kingdom
  • NTDs are defined to include all forms of spina bifida aperta (meningocele, meningomyelocele), encephalocele, anencephaly, rachischisis, iniencephaly and lipomeningocele. Hydrocephalus, hydranencephaly, dermal sinus and spina bifida occulta do not qualify as NTDs.
  • For oral clefts, eligible participants are children and adults with a facial cleft in Ireland and their parents.
  • All families with NTDs or clefts will be recruited for the study.
  • EXCLUSION CRITERIA:
  • Those with known syndromes will be excluded or analyzed separately.
  • Cases for whom both biologic parents are not available will be excluded from some components of triad (case, mother and father) analysis, although the data from the NTD case may be useful for other study components.

Exclusion

    Key Trial Info

    Start Date :

    January 1 2000

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ACTUAL

    End Date :

    December 2 2019

    Estimated Enrollment :

    7451 Patients enrolled

    Trial Details

    Trial ID

    NCT00341068

    Start Date

    January 1 2000

    End Date

    December 2 2019

    Last Update

    December 5 2019

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

    Bethesda, Maryland, United States, 20892