Rett SyndromeNCT04900493
The Rett Syndrome Global Registry
An observational study of Rett Syndrome, run by Rett Syndrome Research Trust at 1 site in United States.
Trial summary
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rett Syndrome
- How many people
- 5,000 participants
- Where
- 1 siteUnited States
- Study dates
- 31 Jan 2022to 30 Jun 2031
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of all ages diagnosed with Rett Syndrome and/or have a mutation in MECP2. MECP2 Duplication syndrome individuals are not included and will be directed to the MECP2 Duplication registries.
Who may be able to join
- Parent/caregiver must be willing and able to provide written informed consent electronically prior to entering data into the registry.
- Rett individuals of any age, living or deceased, must have a diagnosis of Rett syndrome and/or have a mutation in MECP2.
Who cannot join
- Individuals who have a genetic mutation that is inconsistent with Rett syndrome or who have a different disorder.
- Individuals with MECP2 Duplication Syndrome
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Jennifer Reynolds contact
United States1 site, 1 recruiting
- Recruiting
Rett Syndrome Research Trust
Trumbull, Connecticut, 06611
Jana von Hehn, PhD, support@rettglobalregistry.org
Jenny Reynolds, support@rettglobalregistry.org
About this study
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.
Read the detailed description
The Rett Syndrome Global Registry is a fully remote, global, caregiver-reported registry intended to meet the needs of caregivers, clinicians and researchers, and therapeutic developers with the goal to increase our understanding of this rare disorder, support better outcomes for those with Rett syndrome, and facilitate improved therapeutic development. The Rett Global Registry allows families to provide data about their experience with Rett syndrome to improve their loved one's care while contributing to research. Participants may opt in to track and graph symptoms and care strategies over time to support day-to-day care. Participants may also access aggregate data to see similarities and differences in care strategies and consolidate their personal information in a central location. Participants may opt-in to complete medical record consolidation and summary that is centrally accessible, able to be shared with care providers, and utilized for research.
The registry database is designed and maintained to clinical trial standards and supports research and therapeutic development while meeting or exceeding federal privacy and confidentiality requirements. These datasets including caregiver-reported Rett syndrome progression, quality of life, at home day-to-day data, and consolidated medical records from office visits or hospital stays, provides unique and previously unused sources of information important for improving our understanding of Rett syndrome, allow additional avenues of research, and support therapeutic development. Specifically, the registry is intended to assist with clinical development planning, trial design, trial endpoints, and regulatory filings.
- Conditions
- Rett Syndrome
- Keywords
- MECP2, Registry, RSRT
- Medical subject headings
- Rett Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of genetic mutation types and clinical diagnoses.
Measured by data obtained from genetic reports and caregiver-reported clinical diagnoses of enrolled patients.
Measured: 1 year
Caregiver report of developmental milestone achievement over time.
Measured by the percent of individuals who have achieved developmental milestones between 1 and 4 times per year.
Measured: 5 years
Caregiver report of symptom burden and development history over time.
Measured by the percent of individuals who report symptoms and their intervention requirements between 1 and 4 times per year.
Measured: 5 years
Caregiver report of composition and frequency of co-morbidities over time.
Measured by the type and number of non-Rett medical conditions between 1 and 4 times per year.
Measured: 5 years
Caregiver report of the composition and frequency of medication and over-the-counter treatments over time.
Measured by the percent of individuals receiving these care strategies by symptom between 1 and 4 times per year.
Measured: 5 years
Caregiver report of the composition and frequency of physician specialty utilization and care received at Rett Clinics over time.
Measured by the type and number of physician specialties used to manage symptoms and the number of individuals who receive care at a Rett clinic between 1 and 2 times per year.
Measured: 5 years
Caregiver report of the composition of the barriers to clinical trial participation over time.
Measured by the type and number of reasons given for individuals not able or willing to participate in clinical trials between 1 and 2 times per year.
Measured: 5 years
Secondary outcomes (4)
Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time.
Measured by percent of patients perceiving these care strategies as successful between 1 and 2 times per year.
Measured: 5 years
Caregiver report of the frequencies of the level of effectiveness, degree of side effect severity, and other symptom impacts of medications and over-the-counter treatments over time.
Measured by percent of patients receiving medications or over-the-counter treatments and the percent perceiving these care strategies as successful, with side effects, and impact on other symptoms between 1 and 4 times per year.
Measured: 5 years
Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time.
Measured by the number of patients requiring emergency care and hospital admissions at least 1 time per year.
Measured: 5 years
Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time.
Measured by the number of individuals using these features between 1 and 4 times per year.
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 posted25 May 2021
- Study start31 Jan 2022
- Primary completion30 Jun 2031 (estimated)
- Study completion30 Jun 2031 (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
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Rett Syndrome Research Trust
- Sponsor type
- University, hospital or other
- Collaborators
- Baylor College of Medicine, Vanderbilt University Medical Center, Children's Hospital of Philadelphia, Rush University, Boston Children's Hospital, RTI International
- Responsible party
- Sponsor
- Investigators
- Jana von Hehn, PhD, Principal investigator, Rett Syndrome Research Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04900493
- Sponsor's protocol ID
- Rett-Registry
- Status last verified
- Feb 2026
- First submitted
- 26 Apr 2021
- Last updated
- 17 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Qualified Investigators may make data requests to the Rett Syndrome Global Registry Oversight Committee
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Rett Syndrome Global Registry
- ClinicalTrials.gov ID
- NCT04900493
- Acronym / sponsor ID
- Rett-Registry
- Conditions
- Rett Syndrome
- Keywords
- MECP2, Registry, RSRT
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Rett Syndrome Research TrustUniversity, hospital or other
- Collaborators
- Baylor College of Medicine, Vanderbilt University Medical Center, Children's Hospital of Philadelphia, Rush University, Boston Children's Hospital, RTI International
- Study start
- 31 Jan 2022 (actual)
- Primary completion
- 30 Jun 2031 (estimated)
- Study completion
- 30 Jun 2031 (estimated)
- First posted
- 25 May 2021 (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 Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.
Detailed description
The Rett Syndrome Global Registry is a fully remote, global, caregiver-reported registry intended to meet the needs of caregivers, clinicians and researchers, and therapeutic developers with the goal to increase our understanding of this rare disorder, support better outcomes for those with Rett syndrome, and facilitate improved therapeutic development. The Rett Global Registry allows families to provide data about their experience with Rett syndrome to improve their loved one's care while contributing to research. Participants may opt in to track and graph symptoms and care strategies over time to support day-to-day care. Participants may also access aggregate data to see similarities and differences in care strategies and consolidate their personal information in a central location. Participants may opt-in to complete medical record consolidation and summary that is centrally accessible, able to be shared with care providers, and utilized for research.
The registry database is designed and maintained to clinical trial standards and supports research and therapeutic development while meeting or exceeding federal privacy and confidentiality requirements. These datasets including caregiver-reported Rett syndrome progression, quality of life, at home day-to-day data, and consolidated medical records from office visits or hospital stays, provides unique and previously unused sources of information important for improving our understanding of Rett syndrome, allow additional avenues of research, and support therapeutic development. Specifically, the registry is intended to assist with clinical development planning, trial design, trial endpoints, and regulatory filings.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of all ages diagnosed with Rett Syndrome and/or have a mutation in MECP2. MECP2 Duplication syndrome individuals are not included and will be directed to the MECP2 Duplication registries.
Key inclusion criteria (2 listed)
- Parent/caregiver must be willing and able to provide written informed consent electronically prior to entering data into the registry.
- Rett individuals of any age, living or deceased, must have a diagnosis of Rett syndrome and/or have a mutation in MECP2.
Key exclusion criteria (2 listed)
- Individuals who have a genetic mutation that is inconsistent with Rett syndrome or who have a different disorder.
- Individuals with MECP2 Duplication Syndrome
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
Frequency of genetic mutation types and clinical diagnoses.
Time frame: 1 year
Measured by data obtained from genetic reports and caregiver-reported clinical diagnoses of enrolled patients.
Caregiver report of developmental milestone achievement over time.
Time frame: 5 years
Measured by the percent of individuals who have achieved developmental milestones between 1 and 4 times per year.
Caregiver report of symptom burden and development history over time.
Time frame: 5 years
Measured by the percent of individuals who report symptoms and their intervention requirements between 1 and 4 times per year.
Caregiver report of composition and frequency of co-morbidities over time.
Time frame: 5 years
Measured by the type and number of non-Rett medical conditions between 1 and 4 times per year.
Caregiver report of the composition and frequency of medication and over-the-counter treatments over time.
Time frame: 5 years
Measured by the percent of individuals receiving these care strategies by symptom between 1 and 4 times per year.
Caregiver report of the composition and frequency of physician specialty utilization and care received at Rett Clinics over time.
Time frame: 5 years
Measured by the type and number of physician specialties used to manage symptoms and the number of individuals who receive care at a Rett clinic between 1 and 2 times per year.
Caregiver report of the composition of the barriers to clinical trial participation over time.
Time frame: 5 years
Measured by the type and number of reasons given for individuals not able or willing to participate in clinical trials between 1 and 2 times per year.
4 secondary outcomes
Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time.
Time frame: 5 years
Caregiver report of the frequencies of the level of effectiveness, degree of side effect severity, and other symptom impacts of medications and over-the-counter treatments over time.
Time frame: 5 years
Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time.
Time frame: 5 years
Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time.
Time frame: 5 years
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 17 Feb 2026.
- Individual participant dataSharing planned: Yes. Qualified Investigators may make data requests to the Rett Syndrome Global Registry Oversight Committee
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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.
Jennifer Reynolds contact
Jana von Hehn, PhD principal investigator
Rett Syndrome Research Trust
1 site 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, run by Rett Syndrome Research Trust at 1 site 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 2 inclusion and 2 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 17 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Jana von Hehn, PhD (203-445-0041, support@rettglobalregistry.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of genetic mutation types and clinical diagnoses. (time frame: 1 year). The study lists 7 primary outcomes in all. 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 17 Feb 2026.