$2,442,507 AWARDED

Clinical Trial Consortium

The Rett Syndrome Clinical Trial Consortium was launched by RSRT in the fall of 2017 with the primary objective of providing expert Rett physicians with the personnel and resources necessary to execute high-quality clinical trials in a timely and efficient manner.

The Rett Syndrome basic science community has made phenomenal progress in the last decade in understanding the disease. Coupled with technological advances in a number of fields we are now on the brink of advancing potentially life-changing therapeutics into human clinical trials. While exciting, this success presents new challenges:

  1. There are a limited number of medical centers in the United States and abroad with Rett physicians who have sufficient expertise and resources to participate in clinical and translational research for Rett Syndrome that meet rigorous FDA standards.
  2. All Rett centers are resource constrained and constantly challenged to support and maintain the highly trained personnel necessary to conduct rigorous clinical research.
  3. Lack of funding and trained personnel impacts the Rett physician’s ability to analyze and publish data in a timely fashion, potentially delaying the sharing of important information.

The Clinical Trial Consortium was launched to address these challenges.

As the principal investigator or sponsor of over 75 clinical trials during my academic and biotechnology career, I intimately understand the challenge of performing high quality clinical trials in a busy medical practice. I look forward to working closely with these investigators, openly sharing our insights and results with the many other expert investigators that we were regrettably unable to fund in this initial effort, and hopefully, ultimately recruiting these investigators into the Clinical Trial Consortium.


Chief Scientific Officer, RSRT

The Team

An initial investment of $2.4 million supports five Rett clinics. As our funding allows, we hope to grow the number of Clinics in the Consortium. The funding will support full-time research staff (research coordinators, nurses and/or physicians in training) for three years at the following clinics:

  1. Boston Children’s Hospital (BCH); Drs. David Lieberman & Mustafa Sahin
  2. Children’s Hospital of Philadelphia (CHOP); Dr. Eric Marsh
  3. Vanderbilt University Medical Center – Dr. Jeff Neul
  4. Children’s of Alabama – Dr. Alan Percy
  5. Center for Rare Neurological Diseases (CRND, Atlanta), LLC; Dr. Daniel Tarquinio

While this funding will allow the Clinics to focus their efforts on clinical trials that provide the most benefit to the Rett community, a complementary objective will be to leverage the resources and infrastructure developed in our Outcome Measures and Biomarker Development Consortium (OMBD) to improve clinical care for individuals with Rett Syndrome.  Specifically, the outcome measures developed in the OMBD will be used to track and evaluate whether changes in clinical care (e.g., drugs or biologicals, diet, therapy) result in improved health for individual patients.

Current Projects

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