cropped-MSUD-logo-2023_FINAL_4-color.png
Research

Finding Better Treatments And Ultimately A Cure For MSUD Is A High Priority For Our Community And A Key Goal For Our Organization. 

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD.

In 2020 we created our first MSUD Scientific Advisory Board (SAB). The mission of this board is to provide scientific expertise and guidance for the MSUD research portfolio.  The Scientific Advisory Board provides assistance to the MSUD Family Support Group as we:

  • Review our research strategy and modify according to current priorities
  • Prioritize research projects
  • Evaluate research proposals from scientists requesting funding

More information about our Scientific Advisory Board is located in the “Who We Are” page of this web site.

Research Priorities and Requests for Proposals

We are all united in our hope of improving the lives of those with MSUD. Promoting research directed at advancing treatments and discovering a cure is a primary goal of the MSUD Family Support Group.

Research can improve the lives of MSUD patients by

  • Discovering drugs which could lower blood leucine and keto-acid levels and/or reduce their toxic effects.
  • Developing home monitoring devices to monitor blood amino acid levels.
  • Developing gene therapies which could fix the defect in amino acid metabolism causing MSUD.
  • Identifying the impact of MSUD on the brain and developing therapies to improve neuro-psychological health.
  • Improving metabolic formulas.
  • Identifying unmet needs of those with MSUD and their families.

Current research priorities

The present funding priorities of the MSUD Family Support Group are to support research that will promote advances in the treatment and management of MSUD, with the long-term goal of facilitating the development of a cure. The three top priorities at present are to:

  • Support the MSUD Family Support Group Registry
  • Support the development of an in-home technology which can measure blood leucine levels of MSUD patients.
  • Understand the impact of MSUD on the brain and develop therapies to improve neuro-psychological health.
  • Develop gene therapies which could fix the defect in amino acid metabolism responsible for MSUD.

We will, however, entertain any proposal which can be reasonably expected to advance treatments and improve the lives of those with MSUD.

Our Research Plan

Dr. Karen Reznik Dolins , Registered Dietitian, serves as Research Lead for the MSUD FSG. She is the key contact for researchers and others interested in learning more about the organization’s ongoing research projects and priorities for future research. In this video, Dr. Dolins provides an overview of the MSUD research plan and priorities, and also discusses our Scientific Advisory Board.

Call for research proposals  and application guidelines

The MSUD Family Support Group (MSUD-FSG) works to improve the lives of individuals with Maple Syrup Urine Disease (MSUD) and pursue a cure. The MSUD Research Fund is a campaign of the (MSUD-FSG) to advance the science of MSUD by funding the most promising research that will lead to new therapy discoveries and a cure.

The MSUD-FSG seeks proposals that will help us meet the above strategic goals as well as close existing gaps in the knowledge and science of MSUD, and proposals to further support existing MSUD-related projects. Applicants are invited to submit project proposals meeting these goals using the guidelines presented in its Request For Proposals.

Download Request For Proposals

For questions related to MSUD research, contact MSUD Family Support Group Research Lead Karen Dolins:

research@msud-support.org
914-391-2982

Support MSUD Research

Help us fund critical research that can lead to better treatments and ultimately a cure for MSUD.

DONATE TODAY