Using next generation sequencing to find causative genes in patients with severe microcephaly

Using next generation sequencing to find causative genes in patients with severe microcephaly - Genetics of microcephaly

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON35505

Enrollment

750

Registered

2011-12-27

Start date

2011-01-10

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

microcephaly small head size

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: A head circumference below -3 SD at birth or below -4 SD at other ages

Exclusion criteria

Exclusion criteria: Causative chromosomal abnormality identified by array CGH

Design outcomes

Primary

Measure	Time frame
Number of pathogenic mutations in known genes and newly identified genes causing severe microcephaly	—

Secondary

Measure	Time frame
Estimated increase in diagnostic yield and speed compared to currently used diagnostic evaluations and sequential genetic testing in patients with severe microcephaly.	—

Countries

Netherlands

Outcome results