NCT00070850

Brief Summary

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,800

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Apr 2001

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2001

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

October 8, 2003

Completed
5 days until next milestone

First Posted

Study publicly available on registry

October 13, 2003

Completed
1.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2005

Completed
Last Updated

July 2, 2007

Status Verified

August 1, 2005

First QC Date

October 8, 2003

Last Update Submit

June 28, 2007

Conditions

Smith-Lemli-Opitz SyndromePregnancy

Keywords

ScreeningPrenatalAmniocentesis

Eligibility Criteria

Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Pregnant, second trimester
  • Singleton pregnancy
  • Positive second trimester maternal serum screen for Smith-Lemli-Opitz Syndrome (using the Foundation for Blood Research screening algorithm )

You may not qualify if:

  • Gestational age at time of serum collection outside the range accepted for Down Syndrome screening
  • Not pregnant
  • Twin/multiple pregnancy
  • Sample/clerical/assay error
  • Physician not participating in study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Foundation for Blood Research

Scarborough, Maine, 04074, United States

Location

Related Publications (1)

  • Palomaki GE, Bradley LA, Knight GJ, Craig WY, Haddow JE. Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen. 2002;9(1):43-4. doi: 10.1136/jms.9.1.43.

    PMID: 11943798BACKGROUND

MeSH Terms

Conditions

Smith-Lemli-Opitz Syndrome

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornSteroid Metabolism, Inborn ErrorsDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • James E. Haddow, M.D.

    Foundation for Blood Research

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
DEFINED POPULATION
Time Perspective
PROSPECTIVE
Sponsor Type
NIH

Study Record Dates

First Submitted

October 8, 2003

First Posted

October 13, 2003

Study Start

April 1, 2001

Study Completion

July 1, 2005

Last Updated

July 2, 2007

Record last verified: 2005-08

Locations

US(1)