Trials / Completed
CompletedNCT02812511
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
- Status
- Completed
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 9 (actual)
- Sponsor
- University Hospital, Bordeaux · Academic / Other
- Sex
- All
- Age
- 2 Years – 17 Years
- Healthy volunteers
- Not accepted
Summary
The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy metabolism and mitochondrial physiology.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| PROCEDURE | Biopsy | Skin biopsy is performed at the arm with a punch of 3 mm in diameter or a scalpel under local anesthesia, and then preserved in low glucose DMEM at room temperature. |
Timeline
- Start date
- 2015-06-01
- Primary completion
- 2015-07-01
- Completion
- 2015-07-01
- First posted
- 2016-06-24
- Last updated
- 2016-06-24
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT02812511. Inclusion in this directory is not an endorsement.