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CARE STUDY - Digital Natural History Study

We are recruiting Rett patients to participate in the digital natural history study for Rett syndrome. In addition to contributing your loved one’s anonymous medical data to advance a cure for Rett, by participating you will:

  • Gain full control of your loved one’s medical records all in one place (For those of you who have ever tried to do this, you’ll understand what a gift this is.)
  • Ability to search medical records for key data
  • Ability to easily share records with medical providers
  • Help us speed progress for a cure

Signing up is quick and easy — it takes just 10 minutes. Note that for now participation is limited to people in the USA.

Digital Natural History Study Update

To date 119 Rett parents have made it possible to begin to create a digital natural history study in months, rather than decades. In this video, our Rett experts, Bernhard Suter, MD, medical director of the Rett Center at Texas Children’s Hospital and Cary Fu, MD, medical director of the Rett Syndrome Clinic at Vanderbilt Children’s Hospital, present preliminary information from the digital natural history study and explain how the data is reconciling with the traditional natural history study that spanned 15 years and included over 1,000 patients.

We thank the 119 parents who have shared their children’s medical records. There is power in numbers so we encourage as many parents as possible to join our digital natural history!

More Details About the Digital Natural History Study for Rett Syndrome

A key aspect of drug development is to have as thorough an understanding as possible of the disease in question. Traditionally that understanding has come from in-person clinic visits over many years where expert doctors gather information about patients and collectively add to the knowledge base of the disease. This type of effort is called a natural history study (NHS). Talk to anyone that works in the biopharmaceutical industry and you will quickly get an appreciation for how important it is to have a rigorous NHS.

The Rett community is fortunate that the National Institutes of Health funded a traditional natural history study for more than a decade, and it taught us a lot about the disorder. This study recently came to an end.

As technology has advanced we now have an incredible opportunity to conduct digital natural history studies by tapping into electronic medical health records. By gathering and consolidating years of existing medical records in one fell swoop we can create a comprehensive and accurate dataset to complement and enhance the existing natural history study for Rett syndrome. The digital natural history study will provide detail on every medical visit and hospitalization, all lab work, and all medications without relying on caregivers’ memory or doctors asking the right questions.

We initiated a pilot study with technology company Ciitizen to gather and digitize medical records from an initial cohort of people with Rett syndrome, with the goal to begin generating a digital natural history study. We now have a dataset of 120 individuals with Rett. We are eager to continue recruiting for this study since the more records we gather the more accurate and valuable the Rett digital natural history study will be.

Anonymized and aggregate data will be shared with biopharma companies to aid in their drug development efforts.