The Rett Syndrome Global Registry
This is a global registry for people with Rett syndrome. It's a way for caregivers to share information about their loved one's condition and care. You can track symptoms and care strategies over time, and store important medical information in one place. This information helps researchers better understand Rett syndrome and develop new treatments. The registry aims to collect data on the types of genetic mutations (changes in genes) and diagnoses, as well as how developmental milestones are reached and the burden of symptoms over five years. Anyone with a diagnosis of Rett syndrome or a specific gene mutation (MECP2) can join, and a parent or caregiver must be able to provide consent.
- Study design
- This is an observational study, meaning researchers will collect information without giving any specific treatments. It aims to enroll 5000 participants.
- What's involved
- You would provide caregiver-reported information about your loved one with Rett syndrome. You can also choose to track symptoms and care strategies over time, and consolidate medical records.
- Compensation
- Not stated in the trial record.
- Follow-up
- Caregiver reports on developmental milestones and symptom burden will be measured over five years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
The Rett Syndrome Global Registry
At a glance
Conditions
NCT04900493
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Rett Syndrome Research Trust
Trumbull, Connecticutstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Jana von Hehn, PhD · PRINCIPAL_INVESTIGATOR · Rett Syndrome Research Trust
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Frequency of genetic mutation types and clinical diagnoses.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.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.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.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.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.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.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.