Dear Supporters,

Vaheguru Jee Ka Khalsa, Vaheguru Jee Kee Fateh,

We're thrilled to share transformative updates from the ADLD Center. In just one year, with just $150K, we have made monumental strides:

• Initiated a crucial 1-patient trial for a novel ASO drug.
• Are on the precipice of launching a natural history study to expedite future trials.
• Identified potential FDA-approved treatments for off-label use.  It's important to note that significant testing still needs to be done to see if any of these treatments will be effective.

Your generosity fuels our ongoing research and brings us closer to a cure. With your support, we can continue to make significant progress and provide hope to those affected by ADLD.

Thank you for your commitment to ending ADLD.

Gratefully,

Inderpal Singh
ADLD Center

As 2023 draws to a close, we are filled with a feeling of excitement. Thanks to your support, this year has been one of remarkable progress in our quest to find a cure for ADLD.  

While we are very thankful for the $120,000 we have raised this year, we are $200,000 short of our goal to get the Natural History Study off the ground.  Please watch the video, read below and most importantly, please donate now so we can continue this important work.

Milestones Achieved: A Year in Review and Next Steps

• Initiated the Discovery Process for an ADLD Drug: We’re working with strategic partners to discover a unique drug for ADLD. Currently, potential drug candidates are undergoing testing, which will be followed by a potential pilot trial with a single patient.
  • If successful, we will approach regulators and initiate the process for a broader trial. This will require guidance and dedicated time from many experts.
    
    
• Advanced Drug Repurposing Studies: We kicked-off an effort to understand if existing, FDA-approved drugs can be repurposed to treat ADLD. An initial screen was done in cells that were engineered to mimic ADLD.
  • Another screen, which we expect to be more informative, will be done on cells that were derived from patients. We expect to have results of that screen by mid-2024.
• Planned a Natural History Study: We’re working with world-class healthcare organizations to initiate a natural history which will be used to study ADLD progression across as many patients as possible. If we’re able to get enough participants, when we begin a clinical trial in the future, regulators may be able to use the natural history study as a control group, which means everyone who participates in the clinical trial could get the drug.  In most circumstances, the FDA requires a placebo.
  • In 2024, we will begin recruiting patients for this study and processing their data. In addition to time from patients, this will require continuous support from many clinical sites, clinical coordinators, physician partners, and beyond.
    
    
• Funded three pilot research grants: In partnership with the Orphan Disease Center at the University of Pennsylvania, we awarded $50,000 each to three grantees.
  • Dr. Quasar Padiath at UPitt who is working towards understanding which specific processes lead to the demyelination in ADLD.
  • Dr. Stefano Ratti at the University of Bologna who is working towards building 3D organoid models of ADLD.
  • Dr. Margot Cousin at the Mayo Clinic who is working towards preparing for a clinical trial for ADLD.
  • We will continue to identify priority research areas and fuel innovative discoveries that will help better understand how ADLD works and what we can do to stop it.
    
    
• Created a comprehensive ADLD Handbook: This valuable resource provides essential information and support for individuals and families navigating their journey with ADLD (available at adld.center)
  
  
• Fostered Scientific and Clinical Expert Collaboration: A consortium of ADLD-knowledgeable physicians have drafted a standard of care protocol for other physicians, which is expected to be finalized in early 2024. We will continue this work so every ADLD patient can get the best care possible.
  
  
• Enriching Community Engagement: Our events and the expansion of the ADLD Research Community have woven a stronger support network for researchers, patients and caregivers.

The roadmap for the upcoming year is ambitious, reflecting our commitment to you and the wider ADLD community. With several key projects on the horizon, including execution of a natural history study, groundwork towards potential clinical trials and the creation of an ADLD Center of Excellence, we are hopeful for a breakthrough in the near future.

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While we are very thankful for the $120,000 we have raised this year, we are $200,000 short of our goal to get the Natural History Study off the ground.

Please donate now.

Your support is critical to our success. Every contribution, no matter how big or small, brings us closer to finding a cure for ADLD. This year-end, please consider making a generous donation to fuel the above programs.

Together, we can make a real difference in 2024!

With heartfelt thanks,

ADLD Center Team

As part of our commitment to accelerate research and awareness for ADLD, we need your help with an urgent initiative.

A Groundbreaking Natural History Study

We are thrilled to announce a tentative collaboration with two leading national healthcare organizations to kickstart a Natural History Study (NHS) for ADLD. This study is a critical stepping stone to understanding the course of ADLD better and, ultimately, finding a cure.

What is a Natural History Study?

A Natural History Study (NHS) is an observational research approach that tracks the progression of a disease over time without therapeutic intervention. These studies are particularly vital for rare diseases, capturing onset, progression, and impact on quality of life. They inform future research, help in the development of treatments, and improve patient care strategies. For rare conditions, where patient numbers are limited and symptoms vary widely, such studies provide critical data that aids in the tailoring of personalized medical approaches and can expedite the regulatory processes for novel therapies.

Why is this study important?

Clinical trials, which are conducted to evaluate the safety, efficacy, and optimal dosing of a treatment in a target population under controlled conditions, usually have placebo groups to differentiate the effects of the drug on those receiving treatment. As ADLD is a rare disease, which makes it ethically challenging to conduct traditional clinical trials with placebo groups. An NHS is able to overcome this ethical hurdle by serving as a real-world control group. It tracks the natural progression of ADLD in affected individuals, collecting invaluable data that can significantly inform and expedite therapeutic interventions.

Benefits of NHS:

• Inform Future Clinical Trials: With more data on how ADLD naturally progresses, researchers can design more effective clinical trials.
  
  
• Patient Stratification: The NHS will help us identify subgroups of patients based on symptom severity, thereby enabling personalized medicine approaches.
  
  
• Resource for Global Researchers: The data will be a gold standard worldwide, providing a comprehensive, longitudinal dataset of ADLD progression, which is essential for benchmarking and guiding research efforts globally.
  
  

Other key updates from the year:

• Pilot Research Grants in partnership with the Orphan Disease Center at the University of Pennsylvania: The ADLD Center has awarded three $50,000 pilot research grants in Q2 2023 to stimulate innovative scientific and therapeutic advancements for ADLD. The following researchers were selected:
   
  • Quasar Padiath, University of Pittsburgh, PA USA: The grant will help Dr. Padiath understand which specific types of cells and pathways are implicated in ADLD in order to reveal potential opportunities for targeted treatments.
    
    
  • Stefano Ratti, University of Bologna, Italy: The grant will help Dr. Ratti develop and study models of ADLD in 3D tissue to understand how ADLD is connected with demyelination in order to reveal potential opportunities for targeted treatments.
    
    
  • Margot Cousin, Mayo Clinic, MN USA: The grant will help Dr. Cousin set up a clinical trial program for ADLD patients so that when a potential drug is available, the Mayo Clinic will be able to oversee its administration and track its effects over time.
    
    
• We wrote an ADLD Handbook! The handbook aims to be a comprehensive guide that provides essential information on ADLD, its impact on families, management strategies, and available support networks. Please check it out and let us know if there are any topics you’d like us to expand on or add.
  
  
• Drug Repurposing Study: We are involved in an innovative research project that aims to identify FDA-approved drug candidates that could be repurposed to treat ADLD. If a favorable drug emerges, it could help reduce the effects of the disease and improve patient quality of life.

Please take a quick look at our video update for 2022, which is now on our profile page at dvnetwork.org/adld and available here: https://youtu.be/OHOm93nSLqs

We also lay out our funding needs and spending plan for 2023 and 2024.

Thank you for your support.

Thank you for generously supporting our efforts on behalf of the ADLD community!

2022 has been a busy and productive year for the ADLD Center. We want to take this opportunity to share highlights of our recent activities and momentum to support the community. Our key work streams include: Scientific Research, Collaborative Clinical Network, Patient Engagement + Registry, Strategy & Operations, Communications, Fundraising, and Grants. 

We hope you will take a moment to read through our recent accomplishments below – this work would not be possible without your investment. 

• Funded key research initiative with a gift of $25,000 to support our partner Dr. Quasar Padiath’s crucial ADLD research in the Department of Human Genetics at the School of Public Health at the University of Pittsburgh.
• Officially launched The ADLD Research Hub! We continue our efforts to build a comprehensive ADLD Patient Registry and engage with patients and caregivers to help us understand and serve the needs of the community, in addition to facilitating research.
• Continued creating awareness by leading another well-attended webinar with a number of scientists and patients alike (watch here). There was a very extensive Q&A after the webinar that demonstrated the high level of patient engagement we are seeing.
• Presented at the first ever ADLD scientific conference in the world. Met with leading researchers from various countries including Italy and the Netherlands, and learned about the latest ADLD research. We also informed them about our efforts in order to connect with their ADLD patients and convey our upcoming grant opportunity for ADLD research.
• Attended key scientific meetings including the 2022 Global Leukodystrophy Initiative (GLIA) working meeting, held in Philadelphia, PA, which was designed to have patient advocacy groups collaborate directly with researchers and pharmaceutical industry stakeholders to determine readiness for a clinical trial and path to treatment. 
• Investing in research through a partnership with a fellow non-profit org, the Orphan Disease Center at the University of Pennsylvania. We are developing a focused funding opportunity to help meet the needs of our research community. The Request for Applications will launch by the end of the year, and we will award two $50,000 grants to suitable research team(s). 

A few more projects that are currently in progress where your funds will have continued impact:

• Exploring a new therapeutic path with n-Lorem Foundation to discover potential treatments for patients with rare genetic diseases. New genetics-based approaches show promise for treating monogenic diseases like ADLD. 
• Building out a Research Consortium to hold regularly scheduled meetings with our ADLD research collaborators to address challenges, track progress, and learn from one another on recent advancements. Funding research based on the budget we have available will directly impact the progress we collectively make towards finding a cure for the disease.
• Creating an ADLD Center of Excellence at an academic medical center (AMC) to establish a protocol for tracking disease severity and progression from a clinical perspective. Once we have a proposed treatment intervention, this will enable us to reliably track its efficacy. While AMC’s (i.e physicians, scientists, nurses, care coordinators, etc.) are interested in finding cures for diseases, prioritizing ADLD (i.e. securing physician and team time) over any other rare disease will depend on successful fundraising for ADLD. This makes our fundraising critical to success in treating the disease.
• Serving patients through community events and advancement of the ADLD Research Hub. We must both create a supportive community for patients and caregivers in addition to pushing towards a cure.

We are grateful to have you by our side and look forward to keeping you updated on our progress.

Thank you so much for your generous contribution to the ADLD Center!

2022 has been an incredibly focused year for the Center as we work to make significant progress on our strategic priorities. We want to take a moment and share highlights of our recent momentum with you:

• Creating Awareness through a highly attended webinar with a number of scientists and patients alike (watch here)
• Forming strong clinical partnerships across the U.S. to build our clinical care network (e.g., Mayo Clinic, University of Pittsburgh, Harvard, Italian Centers)
  Selecting a patient registry platform to securely bring together patient data for research and treatment development
• Establishing a committed and expert volunteer base of 8-10 individuals committed to driving our key workstreams (Strategy + Partnerships, Collaborative Research Network, Patient Engagement + Registry, Communications, Fundraising + Finance, and Grants)
• Ensuring sustainability of efforts by applying for multiple research funded by the Foundation for the NIH and other organizations - we hope to hear the results soon. We continue to look for further funding opportunities to help support our cause

A few ways in which your funds will have continued impact:

• In partnership with the Orphan Disease Center at the University of Pennsylvania, we will bring together scientists from around the globe to determine the most important research areas with respect to ADLD.  Based on this Think Tank, we will issue a $100,000 grant to a fitting research team after a rigorous application process
• Creation of an ADLD Clinical Care Network that develops expertise in the care of the disease (initially 5-7 doctors across the globe)
• Patient Engagement and Registry efforts (inclusive of outreach, software license fees, consulting fees, etc.)
• Funding genetic and clinical research teams when needed 

Thank you again for your continued support – we could not do this critical work without you by our side. We always appreciate hearing from our supporters – if you have any questions or ideas on ways to further our efforts, please don’t hesitate to reach out.

ADLD Center Board