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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Current and Past Grants

Advancing Research

NTSAD awards grants for innovative research projects that may lead to treatments for lysosomal storage diseases or leukodystrophies impacting the central nervous system.

These grants went on to receive over $10 million in funding through the National Institute for Health. 

Explore the Impact

On the following pages, explore current research underway, and the impact past grants have made. 

  • 2017 Research Initiative Grants +

    Research is Underway

    The following 3 grants were awarded for 2017. Research updates will be posted when available.

    1. Proof of concept study of HSC gene therapy for Tay-Sachs disease
      Alessandra Biffi, MD

      The project will test a novel gene therapy approach for Tay-Sachs and Sandhoff Disease by establishing a stable population of brain cells, which will serve as a sustained and balanced supply of the deficient enzymes in the patients.
    2. Minimally invasive delivery of AAV gene therapy in the Tay-Sachs Sheep
      Heather Gray-Edwards

      The study will evaluate the efficacy and biodistribution of the state-of-the-art gene therapy in Tay-Sachs Disease sheep.
    3. Development of a quantitative method for the determination of a pentasaccharide in GM1-gangliosidosis patient cells to assess the potential therapeutic efficacy of a beta-galactosidase pharmacological chaperone drug candidate
      Tim Wood / Stephane Demotz

      This study's goals are to develop a quantitative, sensitive, and robust method to determine a biomarker for GM1-gangliosidosis, and to explore treatment conditions of a drug candidate for GM1 patient cells.
    Read More
  • 2016 Research Initiative Grants +

    Research is Underway

    1. Rapid Identification of New Biomarkers for the Classification of GM1 and GM2 Gangliosidoses: A HNMR-linked Metabolomics Stragegy
      Martin Grootveld

      By identifying the markers of GM1 and GM2 in plasma, cerebrospinal fluid, and urine, a greater understanding of the disease will contribute to identification of treatments.
    2. Novel Combined Gene/Cell Therapy Strategies to Provide Full Rescue of the Sandhoff Pathological Phenotype
      Angela Gritti

      This study will evaluate Sandhoff Disease gene and cell therapy approaches, comparing three therapeutic methods to assess these therapies for Sandhoff disease.
    3. Clinically Relevant Outcome Measures for Patients with Late Onset Tay-Sachs disease
      Ascertained Real-Time Through Patient Wearable Technology
      Cynthia Tifft

      This study will collect patient data to identify outcome measures for future clinical trials for Late Onset Tay-Sachs.
    4. Identifying Novel Therapeutics for Treating GM2 Gangliosidoses
      Beverly Davidson

      This study will analyze the drugs Miglustat and Lucerastat, and drugs that act in a similar manner, testing their ability to be used as a treatment for GM2.
    Read More
  • 2015 Research Initiative Grants +

    Research is Underway

    1. Development and validation of a rapid, MS/MS-based method
      to detect Hexosaminidase deficiency in Tay-Sachs disease
      Denis Lehotay

      Advancing research for Tay-Sachs screening, this study furthers the work to establish newborn screening and an eventual cure.
    2. Intravascular Gene Therapy Studies to Improve Methods of Delivery
      Douglas Martin

      This research advances work into developing a less invasive and safer approach to treating Tay-Sachs and Sandhoff Disease.
    3. Defining the Natural History of Canavan Disease through Development of an International Registry
      Healther Lau / Paola Leone

    4. An international registry of Canavan Disease will contribute to showing the effectiveness of potential therapies and provide more data for future studies.
    5. Registry and Repository for Late Onset GM2 Gangliosidoses
      Florian Eichler

      This study will take steps to accumulate and organize information, leading to improved trial design for Late Onset GM2 patients. It includes review of literature and surveys, determination of optimal outcome measures for a pilot project, and creation of electronic case report forms.
    6. Generation of a knock-in mutant Hexb Mouse Model
      Eric Sjoberg

      Advancing Late Onset research, this study will focus on creating a model environment equivalent to a human Late Onset condition. The model will be made available for other Late Onset research.
    Read More
  • 2014 Research Initiative Grant +

    Research Completed

    Lectin-Assisted Transnasal Delivery of Corrective Enzyme for GM1 Gangliosidosis

    This grant funded research into Transnasal delivery, exploring this alternative as a method of delivering enzyme replacement therapy. With its distinctive advantage of being convenient and non-invasive, Transnasal delivery offers potential for treating brain disorders like GM1.

    Read More
  • 2012-2013 Research Initiative Grants +

    Research Completed

    Studies of the Molecular and Biochemical Bases of Neurodegeneration in Sialidosis
    NEU1 is a key lysosomal enzyme in brain cells. Patients with Sialidosis, a rare pediatric lysosomal storage disease, have too little or no NEU1 enzyme. Scientists from d’Azzo Lab analyzed the effects of NEU1 deficiency and identified new genes that may help develop therapies for both Sialidosis and Alzheimer's disease. Read More
  • 2011 Research Initiative Grants +

    Research Completed

    1. Clinical Outcome Measures for a Gene Therapy Trial in Infantile and Juvenile GM2
      Florian Eichler

      Neurological and neuropsychological evaluations of children with GM2 resulted in a Severity Scale that will help scientists further clinical trial design for GM2 gene therapy.
    2. Optimization of Efficacious Gene Therapy for Canavan Disease
      Guangping Gao

      Advancing gene therapy for Canavan disease, this research examined the efficiency of deliverying therapy by injections to the central nervous system. Both systematic intravenous (IV) injections and direct-to-brain intracerebroventricular (ICV) injections were studied.
    3. Studies of Taurine-Conjugated GM2 in Tay - Sachs Disease
      Yu-Tah Li

      This study explored lipids in the brain of Tay-Sachs patients.
    Read More
  • 2010 Research Initiative Grants +

    Research Completed

    1. The Therapeutic Potential of Human Induced Pluripotent Stem Cells (IPSCs)
      in the Sandhoff Disease Mouse Model of Lysosomal Storage Disorders
      Jean-Pyo Lee

      Advancing development of stem them therapy for Tay-Sachs and Sandhoff disease, this pilot study examined the benefits of using transplanted stem cells with a protein factor.
    2. Developing a High Throughput Screening Assay to Identify Potential Drugs for Metachromatic Leukodystrophy
      Gustavo Maegawa

      Researchers developed expertise to convert skin cells to brain cells, to be used as a model system to test potential drugs for neurological diseases.
    3. Sheep as a Model of Tay-Sachs Disease
      Doug Martin

      This research characterizes the disease progression of Tay-Sachs to assist with therapeutic strategies.
    4. Optimizing the Therapeutic Potential of Anti-inflammatory Therapy in
      Tay-Sachs and Related Diseases: Targeting IL-β Generated by Aberrant NLRP3 Inflammasome Activation
      Fran Platt

      The impact of inflammation on the symptoms of lysosomal storage diseases was researched to further potential therapies in treating Tay-Sachs and Sadhoff diseases.
    5. Development of an in vitro approach to identify molecular pathways of Canavan disease
      Maria Traka

      From this research into the rare leukodystrophy Canavan disease, it was determined the loss of key enzyme ASPA function did not lead to the death of oligodendrocyctes neuron cells. This study ay help identify new pathways for treating Canavan disease.
    Read More
  • 2009 Research Initiative Grants +

    Research Completed

    1. Investigator-Initiated Clinical Trial of Pyrimethamine
      Joe Clarke & Edwin Kolodny

      This study examined the potential clinical benefit of a therapy called PYR (Pyrimethamine) for the treatment of late-onset Tay-Sachs Disease and Sandhoff Disease. Further studies are needed to evaluate the benefits and safety.
    2. A Biomarker for Disease Progression in GM2 and Other Neurolipidoses
      Florian Eichler

      This research studied the use of Magnetic Resonance Imaging (MRI) techniques to examine cerebral blood flow changes, providing more data to detect diseases at an early stage.
    3. Novel Therapy for Tay-Sachs Disease, Sialidosis and Ggalactosialidosis
      Using Metabolic Bypass Catalyzed by the Lysosomal Sialidase Neu4
      Alexey Pshezhetsky

      This research provided an explanation as to why the Tay-Sachs disease is severe in humans, but not in mice up to one year of age. The results contribute to further study of the treatments for Tay-Sach disease.
    4. Combination Therapy for Krabbe Disease
      Mark Sands

      This study combined Bone Marrow Transplantation (BMT) with gene therapy for the treatment of Globoid-cell leukodystrophy (GLD, Krabbe disease), proposing this viabile and less invasive way to treat the disease.
    Read More
  • 2002 - 2008 Research Initiative Grants +

    On this page:

    Resulting Publications

    2008
    2003
    2002

    Research Initiative Grants
    2008
    2007
    2004-2005
    2003
    2002

    2008 Research Initiative Grants

    Angela Gritti, PhD and Alessandra Biffi, PhD
    San Raffaele Telethon Institute for Gene Therapy
    “Evaluation of Combined Approaches Using Hematopoietic and Neural Stem Cells for the Treatment of Globoid Cell Leukodystrophy”

    Stephanos Kyrkanides, PhD
    Stony Brook University
    “Retrograde transfer of therapeutic vectors enabled by the trigeminal sensory system”

    2008 Research Grants - Resulting Publications

    Gentner, S, et al., Therapy of Globoid Cell Leukodystrophy Sci Transl Med 2, 58ra84 (2010)

    Kyrkanides, S, et al., The trigeminal retrograde transfer pathway in the treatment of Neurodegeneration, Journal of Neuroimmunology, 209 (2009) 139–142 pdf Journal of Neuroimmunology Pathway Treatment Neuro Kyrkanides 2009 (1.08 MB) (.pdf)

    2007 Research Initiative Grants

    Susan L. Cotman, PhD
    Massachusetts General Hospital
    “Small molecule screening to identify modifiers of lysosomal trafficking, a putative therapy for Batten”

    Doug Martin, PhD
    Auburn University
    “Pre-clinical gene therapy for GM2 in a feline model”

    Miguel Esteves, PhD
    Massachusetts General Hospital
    “AAV-mediated gene therapy for Tay-Sachs: Vector selection for pre-clinical development”

    Aryan Namoodiri, PhD
    Uniformed Services University of the Heath Sciences
    * “Preclinical Research toward Acetate Supplementation Therapy for Canavan Disease”

    This grant was made possible by through the generous

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