Actively Recruiting

Age: 0Years - 99Years
All Genders
ID05432349

Rett Syndrome Real World Data Observational Registry

Led by International Rett Syndrome Foundation · Updated on 2023-01-11

3000

Participants Needed

18

Research Sites

52 weeks

Total Duration

On this page

Sponsors

I

International Rett Syndrome Foundation

Lead Sponsor

B

Boston Children's Hospital

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are conducting a long-term observational study called the Rett Syndrome Registry to gather detailed information about individuals diagnosed with Rett syndrome who have MECP2 mutations. This study aims to collect data from Rett syndrome experts and caregivers about the signs and symptoms experienced by those with this condition. The goal is to help develop standardized care guidelines and support the creation of better clinical trials and drug development focused on Rett syndrome. This study does not involve treatments or drugs but focuses on observing and recording real-world data over time. Participants include males and females with a loss of function mutation in the MECP2 gene. The study collects information continuously to understand the natural history of Rett syndrome over a 5-year period. Participants and their caregivers will provide data about symptoms and experiences related to Rett syndrome. This may involve regular assessments and reporting to help researchers monitor changes and progression. The study measures the natural history of the condition and aims to improve future care and research. Participation may last up to five years, with ongoing data collection and observation.

CONDITIONS

Brief Title

Rett Syndrome Registry

Who Can Participate

Age: 0Years - 99Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Male or female with a pathologic loss of function alteration of MECP2
Not Eligible

You will not qualify if you...

  • Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Long-term Monitoring

Duration - Up to 5 years

Participants are observed over time to collect natural history data related to Rett Syndrome.

Trial Site Locations

Total: 18 locations

1

University of Alabama

Birmingham, Alabama, United States, 35233

Actively Recruiting

2

Children's Hospital Los Angeles

Los Angeles, California, United States, 90027

Not Yet Recruiting

3

UCSF Benioff Children's Hospital

Oakland, California, United States, 94609

Actively Recruiting

4

Children's Hospital Colorado

Denver, Colorado, United States, 80045

Actively Recruiting

5

Rush University Medical Center

Chicago, Illinois, United States, 60612

Actively Recruiting

6

Kennedy Krieger Institute

Baltimore, Maryland, United States, 21205

Actively Recruiting

7

Boston Children's Hospital

Boston, Massachusetts, United States, 02115

Actively Recruiting

8

Gillette Children's Specialty Healthcare

Saint Paul, Minnesota, United States, 55101

Actively Recruiting

9

Washington University in St. Louis

St Louis, Missouri, United States, 63110

Actively Recruiting

10

The Children's Hospital at Montefiore

The Bronx, New York, United States, 10467

Actively Recruiting

11

The University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States, 27517

Not Yet Recruiting

12

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States, 45229

Not Yet Recruiting

13

Nationwide Children's Hospital

Columbus, Ohio, United States, 43205

Not Yet Recruiting

14

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

Actively Recruiting

15

Greenwood Genetic Center

Greenwood, South Carolina, United States, 29646

Actively Recruiting

16

Vanderbilt Kennedy Center

Nashville, Tennessee, United States, 37232

Actively Recruiting

17

Children's Health

Dallas, Texas, United States, 75207

Actively Recruiting

18

Texas Children's Hospital

Houston, Texas, United States, 77030

Actively Recruiting

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Research Team

D

Dominique C. Pichard, MD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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