Research Roadmap

REsearch roadmap

At the ADLD Center, we are committed to making significant strides in the fight against Autosomal Dominant Leukodystrophy (ADLD). Our research roadmap outlines the milestones achieved and the ambitious plans we have set to accelerate progress and find a cure.

Key Milestones in ADLD Research

Natural History Study

• Planning and Implementation: Collaborating with world-class healthcare organizations to initiate a natural history study, which will track ADLD progression in a broad patient population.

• Clinical Trial Integration: The natural history study may serve as a control group for future clinical trials, potentially allowing all trial participants to receive the drug, circumventing the need for a placebo. Recruitment for this study should begin in 2024, with continuous support required from clinical sites, coordinators, and physician partners.

Scientific and Clinical Collaboration

• Standard of Care Protocol: A consortium of ADLD-knowledgeable physicians is drafting a standard of care protocol, expected to be finalized in 2024. This protocol aims to ensure that every ADLD patient receives the highest standard of care.

Drug Discovery and Development

• Initiating the Drug Discovery Process: Partnering with strategic organizations to identify unique drug candidates for ADLD.
• Ongoing Testing: Potential drug candidates are currently undergoing rigorous testing. Upon successful results, we plan to engage with regulators to initiate broader clinical trials, which will require the expertise and dedication of many specialists.

Drug Repurposing

• Initial Screening: Conducted an initial screen of FDA-approved drugs in engineered cells mimicking ADLD, paving the way for innovative treatment options.
• Advanced Screening: A more informative screen on patient-derived cells is set to be conducted, with results expected by mid-2024. This study aims to identify existing drugs that can be repurposed to treat ADLD.

Pilot Research Grants

• Funding Breakthrough Research: In collaboration with the Orphan Disease Center at the University of Pennsylvania, we have awarded $50,000 each to three grantees:
  • Dr. Quasar Padiath (UPitt): Investigating the mechanisms leading to demyelination in ADLD.
  • Dr. Stefano Ratti (University of Bologna): Developing 3D organoid models of ADLD.
  • Dr. Margot Cousin (Mayo Clinic): Preparing for clinical trials in ADLD.
• Ongoing Support: Continuously identifying priority research areas and fueling innovative discoveries to deepen our understanding of ADLD.

ADLD Handbook

• Resource Creation: Developing a comprehensive ADLD Handbook to provide essential information and support for individuals and families affected by ADLD.

Community Engagement

• Building a Support Network: Hosting events and expanding the ADLD Research Community to strengthen the support network for researchers, patients, and caregivers.

Future Directions: Ambitious Plans for 2024 and Beyond