Finances

SDS Therapies and Cures Roadmap.png
SDS Therapies and Cures Roadmap

1. Build humanized mouse and other SDS models

  • that has the most common and relevant human mutation

  • is viable and shows relevant phenotypes

  • designed for testing a wide range of therapeutics
     

2. Characterize the models

  • how does the humanized gene behave in the model

  • what symptoms can be observed (what, when, where)

  • develop measurable biomarkers for testing therapies
     

3. Test and optimize therapies on the model

  • gene editing, base editing, and prime editing therapies

  • antisense oligonucleotide (ASO) and other RNA therapies

  • small molecules and repurposed drugs
     

4. Safety and Efficacy Studies

  • test efficacy and safety of discoveries on suitable models to prepare for clinical trials
     

5. Patient Clinical Trials

  • present results of model work to the FDA and international regulatory agencies to proceed with clinical trials in human patients

  • seek FDA and international approval
     

Goal: SDS Therapies and Cures

​Projects and Initiatives

 

Our SDS therapy and cures roadmap includes a wide range of initiatives and projects driven by the SDS Alliance and/or the research community. We welcome researchers, patient organizations, and biotech companies to join our efforts toward developing therapies for SDS. This is a living document that we update and refine on an ongoing basis.

  • Pre-clinical research tools

    •  IN PROGRESS  Creation of critical new mouse models (see graphics below, and read more here and here).

      • Initial focus is the splice mutant.  

      • Time frame 1-3 years, and cost $150,000 including characterization.​

    •  PLANNING  Biobank / patient derived cell lines (PBMCs, Fibroblasts, iPSCs) at the Coriell Institute.

      • Ongoing. Starting to recruit patients.

      • Enrollment, sample preparation (except iPSCs) and storage charges are covered by Coriell.

      • Time-frame for new iPSCs is about 8 months, and costs $5,000-$10,000 per cell line. ​​

  • Patient data for research

    •  IN PROGRESS  Natural History Studies

      • Regional clinical registries and natural history studies are ongoing at academic centers in the US, Canada, France, Italy, Germany, Australia, Japan, and more)

    •  PLANNING  Global, patient-owned and reported, open-access, federated data hub

      • Ongoing. Enrollment starting soon

      • Cost $50,000-100,000/yr​

  • Accelerating promising projects

    •  IN PROGRESS  Discovery/Early-stage work using Gene Editing / Base Editing / Prime Editing (Dr. Brendel's, Dr. Bauer's, and Dr. Shimamura's labs at Boston Children's Hospital, USA) 

      • Estimated time frame for pre-clinical work: 5 years, could be faster with a successful mouse model​

    •  IN PROGRESS  Discovery/Early-stage work using Small Molecules (Dr. Alan Warren @ Cambridge University, UK) 

      • ​Estimated time frame for pre-clinical work: 5 years, could be faster with a successful mouse model

    •  IN PROGRESS  Pre-clinical/Clinical work using drug repurposing (Ataluren and other nonsense suppressors) (Dr. Cipolli, Verona, Italy) 
       

  • Launching new project

    •  PLANNING  Antisense Oligonucleotide (ASO) therapies​

    •  PLANNING  Other RNA based therapies 

    •  PLANNING  High throughput drug repurposing screens

    •  PLANNING  Novel conditioning to prep for gene therapy
       

  • Clinical trial readiness

    •  IN PROGRESS  Improved access to diagnostics (through collaborations with clinical SDS registries, clinical consortia (such as NICER), and foundations.

    •  IN PROGRESS  Creating an informed and engaged patient community through high quality educational resources

    •  IN PROGRESS  Developing a united global patient community through local outreach programs 

    •  IN PROGRESS  Adult SDS Patient Council

    •  IN PROGRESS  Systematically capturing the patient’s voices and engaging with regulatory agencies (e.g. FDA)

The mission of the SDS Alliance is to make the future of all people affected by Shwachman-Diamond Syndrome (SDS) brighter, through driving research to find therapies and cures for SDS.

All financial reports will be posted publicly, as soon as they are available. In the meantime, please email us at connect@SDSAlliance.org with any questions. Our goal is to practice maximum transparency while respecting the privacy of any donors who wish to remain anonymous.