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Advances in Rett Syndrome Research

Reasons for Optimism

The Rett Syndrome Research Trust supports and funds Rett syndrome research for a cure. We believe a cure for Rett syndrome is possible because of three critical scientific facts:

The root cause is known
The root cause is known — alterations in a single gene, MECP2
The disorder is not neurodegenerative
The disorder is not neurodegenerative — brain cells don’t die
Restoring levels of the MECP2 protein dramatically reverses symptoms in mice
Restoring levels of the MECP2 protein dramatically reverses symptoms in mice

Our Plan: Cure 360

We’ve taken the optimism and hope that stems from these three facts and built a comprehensive plan for curing Rett syndrome: CURE 360. This plan, the only one in existence for Rett, encompasses our vision, singular focus, deep understanding of the science, the environment we’ve built for collaboration, and our experience with drug and business development. The plan is executed by our staff and advisors who are driven and fearless, and who refuse to be distracted by anything that doesn’t move the needle toward a cure.

  • 1 – Understand the molecular underpinnings of Rett.

    RSRT started by funding numerous basic research studies, which grew our collective knowledge base of the disorder and inform all of our current initiatives.

  • 2 – Identify and advance curative strategies for Rett.

    We have identified and are aggressively pursuing six genetic-based strategies that attack Rett syndrome at its genetic core. Driving multiple strategies forward in parallel mitigates risk.

  • 3 - Attract biopharmaceutical companies.

    A cure for Rett syndrome will be developed by the pharmaceutical industry, but Rett isn’t low-hanging fruit for them. So we engage in strategic business development to attract and incentive companies to pick up the genetic-based programs that we have advanced.

  • 4 – Support clinical trials.

    As a direct result of our progress, we are closer than ever to clinical trials that target the root cause of Rett syndrome. We are currently spearheading a number of clinical initiatives to improve the effectiveness and efficiency of clinical trials.

  • The curative strategy closest to clinical trial, gene replacement introduces healthy copies of the MECP2 gene into the body to compensate for the mutated one.
  • Rather than introduce extra healthy copies of a gene, this strategy fixes the underlying mistake in the MECP2 gene using state-of-the-art CRISPR technology.
  • Reactivation could mitigate the flawed MECP2 gene by reawakening its silenced counterpart, which is present in all females.
  • RNA is a copy of DNA, so mutations in a gene are also in its RNA. RNA editing efforts harness normal editing processes that already exist in our cells.
  • This strategy harnesses a naturally occurring process to replace the section of MECP2 RNA that contains most mutations with a healthy replacement.
  • Rather than target the gene or the RNA, this strategy delivers the healthy MECP2 protein on an ongoing basis.

The Business of Drug Development

The spark for a new drug typically happens with a basic science discovery in an academic laboratory. A drug candidate is tested in cell cultures and then in animal models. With encouraging data in hand, intellectual property (IP) is filed. Scientists sometimes start a company that licenses the IP from the academic institution. More often, however, the institution markets the IP to biopharmaceutical companies.. Once the IP is licensed, the biopharmaceutical company begins work on a disease indication.

The divide between academia and biopharmaceutical companies is often referred to as the “Valley of Death” because most discoveries never make the transition. RSRT’s CURE 360 eliminates the “Valley of Death” by bridging the divide between academia and biopharma through our scientific and business connections, and drug development experience. Our track record speaks for itself: Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were advanced with RSRT funding.

Learn how RSRT is accelerating
the attack on Rett syndrome
with Cure 360.

MECP2 Therapeutic Pipeline

Because of RSRT's efforts there is an extensive pipeline of MECP2 targeted programs in development at biopharmaceutical companies and in academia. Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were incubated with RSRT funding.

This pipeline, which shows current and projected 2024 goals, is dynamic. As new data emerges the pipeline will be updated.

  • Research & Discovery
    The earliest stage of development, encompassing basic research to identify therapeutics.
  • Proof of Concept
    Preliminary experiments, typically performed in test tubes, cells or mice, that confirm the expected beneficial therapeutic effects.
  • Safety & Manufacturing
    Required studies that assess safety, tolerability, efficacy, and dose ranges prior to initiating human studies.
  • Clinical Trials
    Testing of the therapeutic in humans, first for safety and then for efficacy. This may be done in a series of trials with a single objective or in single trials with multiple objectives.
  • Available Therapeutic
    Therapeutic has demonstrated safety and efficacy, and can be commercialized by companies and used by doctors to treat patients outside of a clinical trial.

RSRT’s Role As A Strategic Partner to Biopharmaceutical Companies

Breakthrough discoveries are made in academic labs. But academic scientists are not drug developers — biopharmaceutical companies develop drugs. As Rett syndrome is not low-hanging fruit for biopharma, RSRT functions as a strategic partner to ensure that biopharma picks up programs that we have advanced. The basic science, translational efforts, tools, and resources we have nurtured and supported have facilitated the biopharmaceutical companies below to initiate MECP2 therapeutic programs.

Rett Research Companies
Rett Research Companies




RSRT-sponsored research led to industry pursuit of multiple Rett programs.



RSRT funding introduced and expanded novel therapeutic areas for Rett that did not exist before.



Awarded $66 million for our plan to cure Rett.