Finances

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.

SDS Therapies and Cures Roadmap

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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​

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​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.

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• 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. ​​

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• 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​
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• 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)