Rett SyndromeRSRNCT05432349
Rett Syndrome Registry
An observational study of Rett Syndrome and Rett Syndrome, Atypical, run by International Rett Syndrome Foundation at 19 sites in United States.
Trial summary
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the… Read more about this study
- Who is it for?
- Ages 0 to 99 years
- Conditions the study is for
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease
- How many people
- 3,000 participants
- Where
- 19 sitesUnited States
- Study dates
- 2 Aug 2022to Jul 2028
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population is males and females of all ages with a loss of function alteration of the MECP2 gene, most commonly resulting in Rett syndrome.
Who may be able to join
- Male or female with a pathologic loss of function alteration of MECP2
Who cannot join
- Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication
Trial locations and contacts
19 sites in 1 country. Contact the study team or a site near you to ask about taking part.
19 sites in 1 country
United States19 sites, 19 recruiting
- Recruiting
Kennedy Krieger Institute
Baltimore, Maryland, 21205
Constance Smith-Hicks, (443) 923-2778, geneticsclinic@kennedykrieger.org
- Recruiting
University of Alabama
Birmingham, Alabama, 35233
Emily Wignall, (205) 638-2551, emily.wignall@childrensal.org
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
David Lieberman, (617) 355-2063, rettresearch@childrens.harvard.edu
- Recruiting
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27517
Yulissa Gonzalez, (984) 974-7337, yulissa_gonzalez@neurology.unc.edu
- Recruiting
Rush University Medical Center
Chicago, Illinois, 60612
Emma Citow, (312) 942-3034, emma_citow@rush.edu
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Rochelle Witt, (513) 636-4222, rett@cchmc.org
- Recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
Christopher Beatty, (614) 722-4625, rettsyndromeclinicadmin@nationwidechildrens.org
- Recruiting
Children's Health
Dallas, Texas, 75207
Dallas Armstrong, (214) 456-2768, dallasneurologyclinic@childrens.com
- Recruiting
Children's Hospital Colorado
Denver, Colorado, 80045
Tim Benke, (720) 777-4798, rettclinic@childrenscolorado.org
- Recruiting
Greenwood Genetic Center
Greenwood, South Carolina, 29646
Fran Annese, (864) 941-8100, fran@ggc.org
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
Bernhard Suter, (832) 822-7388, bbc@texaschildrens.org
- Recruiting
Children's Hospital Los Angeles
Los Angeles, California, 90027
Payal Gu, (323) 361-2471, Rettclinic@chla.usc.edu
- Recruiting
Nicklaus Children's Hospital
Miami, Florida, 33155
Paula Schleifer, 305-666-6511, rettclinic@nicklaushealth.org
- Recruiting
Vanderbilt Kennedy Center
Nashville, Tennessee, 37232
Cary Fu, (615) 936-5536, rettclinic@vumc.org
- Recruiting
UCSF Benioff Children's Hospital
Oakland, California, 94598
Grace Sobrero, (510) 428-3590, grace.sobrero@ucsf.edu
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Eric Marsh, (267) 426-1242, dl-rettsyndrome@chop.edu
- Recruiting
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota, 55101
Art Beisang, (651) 228-6455, phalenpedsclinic@gillettechildrens.com
- Recruiting
Rady Children's Hospital - San Diego
San Diego, California, 92123
Karen Ditslear, 858-966-5819, kditslear@health.ucsd.edu
- Recruiting
Washington University in St. Louis
St Louis, Missouri, 63110
Robin Ryther, (314) 454-6120, rett@email.wustl.edu
About this study
Official title: Rett Syndrome Real World Data Observational Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.
- Conditions
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked, Intellectual Disability, Neurobehavioral Manifestations
- Keywords
- Rett syndrome, MECP2, Neurodevelopmental disorder, Registry, Natural History Study
- Medical subject headings
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, Intellectual Disability, Neurobehavioral Manifestations, Neurologic Manifestations, Nervous System Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural History
To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jun 2022
- Study start2 Aug 2022
- Primary completionJul 2027 (estimated)
- Study completionJul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- International Rett Syndrome Foundation
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital, Children's Health UTSW, Children's Hospital Colorado, Children's Hospital of Philadelphia, Gillette Children's Specialty Healthcare, Greenwood Genetic Center, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., Rush University, St. Louis Children's Hospital, Baylor College of Medicine, University of Alabama at Birmingham, UCSF Benioff Children's Hospital Oakland, Vanderbilt University Medical Center, Hive Networks, Nationwide Children's Hospital, Children's Hospital Medical Center, Cincinnati, Nicklaus Children's Hospital, University of North Carolina, Chapel Hill, Children's Hospital Los Angeles, Rady Children's Hospital, San Diego
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05432349
- Sponsor's protocol ID
- Pro00060206
- Acronym
- RSR
- Status last verified
- Jun 2026
- First submitted
- 5 Apr 2022
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rett Syndrome Real World Data Observational Registry
- ClinicalTrials.gov ID
- NCT05432349
- Acronym / sponsor ID
- RSR / Pro00060206
- Conditions
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked, Intellectual Disability, Neurobehavioral Manifestations
- Keywords
- Rett syndrome, MECP2, Neurodevelopmental disorder, Registry, Natural History Study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- International Rett Syndrome FoundationUniversity, hospital or other
- Collaborators
- Boston Children's Hospital, Children's Health UTSW, Children's Hospital Colorado, Children's Hospital of Philadelphia, Gillette Children's Specialty Healthcare, Greenwood Genetic Center, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., Rush University, St. Louis Children's Hospital, Baylor College of Medicine, University of Alabama at Birmingham, UCSF Benioff Children's Hospital Oakland, Vanderbilt University Medical Center, Hive Networks, Nationwide Children's Hospital, Children's Hospital Medical Center, Cincinnati, Nicklaus Children's Hospital, University of North Carolina, Chapel Hill, Children's Hospital Los Angeles, Rady Children's Hospital, San Diego
- Study start
- 2 Aug 2022 (actual)
- Primary completion
- Jul 2027 (estimated)
- Study completion
- Jul 2028 (estimated)
- First posted
- 27 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Ages
- 0 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population is males and females of all ages with a loss of function alteration of the MECP2 gene, most commonly resulting in Rett syndrome.
Key inclusion criteria (1 listed)
- Male or female with a pathologic loss of function alteration of MECP2
Key exclusion criteria (1 listed)
- Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Natural History
Time frame: 5 years
To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2026.
Related trials for Rett Syndrome
Active, not recruiting
Measuring Impact of Computer Gaming on Arm Use in Rett Syndrome
Rett Syndrome
Active, not recruiting
Technology-supported Motor Rehabilitation for People With Rett Syndrome
Rett Syndrome
RecruitingObservational study
Neurophysiologic Biomarkers in Rett Syndrome
Rett Syndrome, RTT
RecruitingPhase 3
A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
Rett Syndrome
RecruitingPhase 1/2
ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
19 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rett Syndrome and Rett Syndrome, Atypical, run by International Rett Syndrome Foundation at 19 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 19 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dominique Pichard (513-874-3020, research@rettsyndrome.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural History (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2026.