Roadmap to a Cure

In 2017 we implemented a three-year strategic research plan, Roadmap to a Cure. The goal was to identify and launch therapeutic programs that target the root cause of Rett Syndrome. Through the generosity of the Rett community we raised the necessary $33 million.

When Roadmap began there were three MECP2-therapeutic programs in the pipeline. The Roadmap, combined with earlier support, facilitated the launch of an additional 12.

Remarkably, at the start of Roadmap there were ZERO companies with MECP2 therapeutic programs. Today, there are SIX with more to come.

We are grateful for the generous support of Rett families in the US and around the world and to their networks of relatives, friends and colleagues, who make our work possible.

MECP2 Therapeutic Pipeline

Available Therapeutic Therapeutic demonstrates safety and efficacy. Can be commercialized by companies and prescribed by doctors to treat patients. Clinical Trials Safety and efficacy testing in humans. May be multiple trials with one objective, or a single trial with multiple objectives. Safety & Manufacturing Required studies that assess safety, tolerability, efficacy and dose ranges prior to initiating human studies. Proof of Concept Preliminary experiments performed in test tubes, cells or mice that confirm the expected beneficial therapeutic effects. Research & Discovery The earliest stages of development encompassing basic research to identify potential therapeutic leads.

Therapeutic Development

  • RSRT introduced and expanded novel therapeutic areas for Rett that did not exist before: gene therapy, genome editing, MECP2 reactivation, RNA editing, RNA trans-splicing.
  • Research incubated by RSRT has led to industry picking up programs: AveXis, Taysha, Vico
  • Research and foundational resources supported by RSRT has expedited programs: Beam, Shape
  • Creation of next-generation gene therapy replacement product involving gene therapy pioneer, Jim Wilson.
  • Cultivated, recruited and funded world-class team at UMASS Medical School to edit DNA by replacing sections that contain 97% of all mutations.
  • Recruited five world-renowned experts including an inventor of CRISPR to work on RNA editing.
  • Our funding developed three approaches to regulate MECP2 expression to prevent overexpression in gene therapy.
  • MECP2 Consortium comprised of an elite trio of scientists, reshaped the scientific thinking of how MECP2 functions.

RSRT’s Role As An Incubator

The basic science, translational efforts, tools and resources we have nurtured and supported have faciliated the biopharma companies below to initiate MECP2-therapeutic programs. At the start of Roadmap to a Cure there were ZERO companies. Now there are SIX, with more to come.

Clinical and Translational Research

  • Launched Outcome Measures & Biomarkers Initiative to develop assessments that are meaningful and acceptable to the FDA.
  • Conceived of and launched Clinical Trial Consortium with the objective of providing resources to execute high-quality clinical trials.
  • Launched our first FDA-regulated trial in 2019 within the Clinical Trial Consortium.
  • Created a biorepository of valuable human Rett tissue samples (fibroblasts, lymphocytes, iPSC) that are available to academia and biopharma.
  • Launched Jackson Laboratories mouse model initiative

Organizational Accomplishments

  • Raised $33 million in 3 years
    • 35,653 donations
    • More than 1600 families from the US and around the world fundraising
  • Expanded our internal research team with significant drug development expertise
  • Grew RSRT board of trustees to 14
  • Maintained an average of 95% spending on research
A list of research awards from 2008 to 2019.
A list of scientific publications funded by RSRT.
Listing of philanthropists who supported Roadmap to a Cure.
A list of research awards from 2008 to 2019.
A list of scientific publications funded by RSRT.
Listing of philanthropists who supported Roadmap to a Cure.

A cure for Rett.
You want it.
We want it.

Great achievements happen when people stand up and say I’m in. I will be part of the solution!

Rett may be a rare disorder but together we are powerful.