Rett SyndromeNCT06346106
The Diagnostic Experience of Male Rett Syndrome
An observational study of Rett Syndrome and RTT, run by Children's Hospital Colorado at 1 site in United States.
Trial summary
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs. Read more about this study
- Who is it for?
- Ages 0 to 100 years, men only
- Conditions the study is for
- Rett Syndrome, RTT
- What is being tested?
- Male Rett
- How many people
- 80 participants
- Where
- 1 siteUnited States
- Study dates
- 24 May 2023to 30 Apr 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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 100 years
- Men only
- Child, Adult, Older adult
Study population: Parents/caregivers to boys with Rett syndrome
Who may be able to join
- English-speaking parents (over the age of 18) of male children (all ages, alive or deceased) with confirmed genetic diagnosis of male RTT
Who cannot join
- parents of male MECP2 duplication syndrome
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
University of Colorado Anschutz Medical Campus
Aurora, Colorado, 80045
Natalia Klamut, 720-277-9095, malerettstudy@cuanschutz.edu
Timothy Benke, MD, PhD
About this study
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs.
Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.
- Conditions
- Rett Syndrome, RTT
- Being tested
- Male Rett
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Male RettGenetic
This study does not have an intervention. Participants of this study must be parents or caregivers to boys with Rett syndrome.
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic experiences
Qualitative interview
Measured: retrospective from birth
Attainment of developmental milestones and any regressions
Remote survey of developmental milestones, reported in months
Measured: retrospective from birth
QI-disability
"QI-Disability" is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life
Measured: retrospective over prior month
Parent priorities for care and counseling
Remote survey the asks parents to prioritize with a rating scale their priorities for patient care
Measured: retrospective from birth
Parenting experience
Remote survey the asks parents to rate with a rating scale their parenting experience
Measured: retrospective from birth
Information regarding child's death, if applicable
Questionnaire that asks parents about the details of their child's death, if applicable
Measured: retrospective from birth
Secondary outcomes (3)
Family demographics
Questionnaire
Measured: retrospective, over last 12 months
Systems of supports
Questionnaire
Measured: retrospective, over last 12 months
Healthcare preferences
Questionnaire
Measured: retrospective, over last 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2024
- Study start24 May 2023
- Primary completion30 Apr 2024 (estimated)
- Study completion30 Apr 2024 (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
- Retrospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Colorado
- Sponsor type
- University, hospital or other
- Collaborators
- University of Colorado, Denver, Vanderbilt University School of Medicine, University of Alabama at Birmingham, University of Pennsylvania, International Rett Syndrome Foundation, Rocky Mountain Rett Association
- Responsible party
- Principal investigator, Tim Benke, MD, Children's Hospital Colorado
- Investigators
- Timothy Benke, MD, PhD, Principal investigator, University of Colorado, Denver
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06346106
- Sponsor's protocol ID
- 23-0075
- Status last verified
- Mar 2024
- First submitted
- 7 Feb 2024
- Last updated
- 3 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Diagnostic Experience of Male Rett Syndrome
- ClinicalTrials.gov ID
- NCT06346106
- Acronym / sponsor ID
- 23-0075
- Conditions
- Rett Syndrome, RTT
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Children's Hospital ColoradoUniversity, hospital or other
- Collaborators
- University of Colorado, Denver, Vanderbilt University School of Medicine, University of Alabama at Birmingham, University of Pennsylvania, International Rett Syndrome Foundation, Rocky Mountain Rett Association
- Study start
- 24 May 2023 (actual)
- Primary completion
- 30 Apr 2024 (estimated)
- Study completion
- 30 Apr 2024 (estimated)
- First posted
- 3 Apr 2024 (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 Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs.
Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Ages
- 0 to 100 years
- Sex
- Male only
- Age groups
- Child, Adult, Older adult
- Study population
- Parents/caregivers to boys with Rett syndrome
Key inclusion criteria (1 listed)
- English-speaking parents (over the age of 18) of male children (all ages, alive or deceased) with confirmed genetic diagnosis of male RTT
Key exclusion criteria (1 listed)
- parents of male 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.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Male RettThis study does not have an intervention. Participants of this study must be parents or caregivers to boys with Rett syndrome. | Genetic | – |
Primary outcome
Diagnostic experiences
Time frame: retrospective from birth
Qualitative interview
Attainment of developmental milestones and any regressions
Time frame: retrospective from birth
Remote survey of developmental milestones, reported in months
QI-disability
Time frame: retrospective over prior month
"QI-Disability" is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life
Parent priorities for care and counseling
Time frame: retrospective from birth
Remote survey the asks parents to prioritize with a rating scale their priorities for patient care
Parenting experience
Time frame: retrospective from birth
Remote survey the asks parents to rate with a rating scale their parenting experience
Information regarding child's death, if applicable
Time frame: retrospective from birth
Questionnaire that asks parents about the details of their child's death, if applicable
3 secondary outcomes
Family demographics
Time frame: retrospective, over last 12 months
Systems of supports
Time frame: retrospective, over last 12 months
Healthcare preferences
Time frame: retrospective, over last 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2024.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
Timothy Benke, MD, PhD principal investigator
University of Colorado, Denver
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 and RTT, run by Children's Hospital Colorado 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 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: status not confirmed, as of the sponsor's last update on 3 Apr 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Natalia Klamut ((720) 277-9095, malerettstudy@cuanschutz.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic experiences (time frame: retrospective from birth). The study lists 6 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 3 Apr 2024.