Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
NCT00299312 · ClinicalTrials.gov registry record
Genetic and Physical Characteristics of Rett Syndrome
A clinical trial, sponsored by University of Alabama at Birmingham.
- Completed
- Registry status
- 10
- Enrollment target
NCT00299312: Completed study, sponsored by University of Alabama at Birmingham.
NCT00299312 is a clinical trial that has completed, run by University of Alabama at Birmingham. The registered enrollment target is 10 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00299312 has completed, sponsored by University of Alabama at Birmingham.
- COMPLETED
- Registry status
- 10 participants
- Enrollment target
Study Summary
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.
Primary Outcome
The primary endpoint is to determine the variables related to clinical outcome in terms of genotype and phenotype. The variables include growth, head circumference, stereotypic movements, periodic breathing, epilepsy, scoliosis, and longevity. Summative data are provided by the Clinical Severity Scale (CSS) and the Motor Behavioral Assessment (MBA) and specific neurophysiologic and neuroimaging studies in selected participants.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 10 participants |
| Start Date | 2006-03 |
| Est. Completion | 2015-10 |
What the finished NCT00299312 record still lists
NCT00299312 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 10 participants, a relatively small participant target.
The record links to 0 conditions, and to 0 interventions.
NCT00299312 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT00299312 about?
NCT00299312 is a clinical study titled "Genetic and Physical Characteristics of Rett Syndrome". 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, i...
What is the current status of trial NCT00299312?
This trial is currently completed. The enrollment target is 10 participants. The study started on 2006-03. Estimated completion is 2015-10.
Who is sponsoring clinical trial NCT00299312?
This trial is sponsored by University of Alabama at Birmingham, which has 1,160 total clinical trials registered on ClinicalTrials.gov.
Learn More About Clinical Trials
Nationwide trials with similar profiles
Cross-condition peers matched on enrollment target and registry start date, not the same-condition list above.
Similar enrollment target
- NCT00623389 · 10 participants · NA
Evaluation of an Advanced Lower Extremity Neuroprostheses
- NCT01241864 · 10 participants · Phase 2
Islet Transplantation in Type 1 Diabetic Kidney Allograft
- NCT01293214 · 10 participants · NA
Vascularized Composite Allotransplantation for Multiple Extremity Amputations
- NCT01474148 · 10 participants · NA
A Neuroprosthesis for Seated Posture and Balance
Similar registry start date
- NCT05988463 · started 2027-01-01 · Phase 1
Dose-Escalation Study of Artesunate Patients With IPF
- NCT07219706 · started 2026-12-10 · NA
Dietary Fiber and Time Restricted Eating
- NCT02831335 · started 2026-12-01
Technical Development of Multi-Parametric Renocerebral MRI
- NCT05962346 · started 2026-12 · NA
Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia