Genetic and Physical Characteristics of Rett Syndrome
Public ClinicalTrials.gov record NCT00299312. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral features, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments. Expanded studies include individuals with MECP2 Duplication disorder, and RTT-related disorders including individuals with MECP2 mutations, but not meeting obligatory criteria for the diagnosis of RTT and individuals with mutations in CDKL5 and FOXG1 some of whom meet criteria for atypical RTT.
Study identification
- NCT ID
- NCT00299312
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 10 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 28, 2006
- Primary completion
- Sep 30, 2015
- Completion
- Sep 30, 2015
- Last update posted
- Mar 15, 2017
2006 – 2015
United States locations
- U.S. sites
- 11
- U.S. states
- 10
- U.S. cities
- 11
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| University of Alabama at Birmingham | Birmingham | Alabama | 35294 | — |
| Children's Hospital of Oakland | Oakland | California | 94709 | — |
| University of California San Diego | San Diego | California | 92123 | — |
| University of Colorado Denver | Denver | Colorado | 80045-2571 | — |
| Rush University Medical Center | Chicago | Illinois | 60612 | — |
| Children's Hospital Boston | Boston | Massachusetts | 02115 | — |
| University of Rochester | Rochester | New York | 14627-0140 | — |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104-4318 | — |
| Greenwood Genetic Center | Greenwood | South Carolina | 29646 | — |
| Vanderbilt University | Nashville | Tennessee | 37212 | — |
| Baylor College of Medicine | Houston | Texas | 77030 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00299312, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Mar 15, 2017 · Synced Sep 8, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00299312 live on ClinicalTrials.gov.