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Clinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MS

Clinical study on the diagnosis of Smith Lemli Opitz syndrome by GC-MS

Status
Active, not recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2000035477
Enrollment
Unknown
Registered
2020-08-12
Start date
2020-08-11
Completion date
Unknown
Last updated
2020-08-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Smith-Lemli-Opitz syndrome

Interventions

Gold Standard:Quantitative detection of 7-DHC
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GC-MS

Sponsors

Obstetrics and Gynecology Hospital Affiliated to Fudan University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 1 Years

Inclusion criteria

Inclusion criteria: Newborns with suspected clinical manifestations of SLOS

Exclusion criteria

Exclusion criteria: Except for the control group, the newborns do not with SLOS

Design outcomes

Primary

MeasureTime frame
7-DHC;—

Secondary

MeasureTime frame
Cholesterol;—

Countries

China

Contacts

Public ContactZhang Cheng-Qiang

Obstetrics and Gynecology Hospital Affiliated to Fudan University

z13869270818@163.com+86 15710196785

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026