Molecular basis of Pierpont syndrome

Molecular basis of Pierpont syndrome - Molecular basis of Pierpont syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38587

Enrollment

Registered

2013-07-19

Start date

2013-09-03

Completion date

Unknown

Last updated

2024-04-23

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

Conditions

Pierpont syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients: clinical diagnosis Pierpont syndrome Parents: having a child with clinically diagnosed Pierpont syndrome; able to read and understand the written information

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
Detection of the gene causing Pierpont syndrome.	—

Secondary

Measure	Time frame
- Understanding the molecular and cellular mechanisms leading to the various manifestations of Pierpont syndrome. - better understanding of the regulation of subcutaneous fatdepositions	—

Countries

Netherlands

Outcome results