EXPLORING THE SCIENCE & THE MISSION
Resources for families, clinicians, researchers, and supporters who want to learn more about the diseases we work on and the principles that guide us.
EXPLORE OUR RESOURCES
⇒ DISEASE INFORMATION
Plowshare focuses on rare genetic diseases that profoundly affect children, families, and their communities. Explore the sections below to learn what each condition is, how it affects the body, and what Plowshare is working toward.
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What is it? Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder that prevents the body from properly breaking down three amino acids found in protein: leucine, isoleucine, and valine. Without careful management, these amino acids and their byproducts can build up to toxic levels, causing metabolic crises, brain injury, coma, or death. The disease takes its name from the distinctive sweet odor it can give urine.
How is it inherited? MSUD is inherited in an autosomal recessive pattern. A child develops the disease when they inherit a disease-causing genetic variant from each parent. Parents who each carry one variant usually do not have symptoms themselves. When both parents are carriers, each pregnancy has a 25% chance of producing a child with MSUD.
Who does it affect? MSUD occurs worldwide and can affect children of any background. It is especially common in certain Old Order Mennonite communities, where a genetic founder variant has been passed down through generations. Plowshare’s materials estimate that MSUD affects approximately one in every 380 Mennonite births—about 500 times the worldwide rate.
How is it currently managed? Newborn screening can identify MSUD before symptoms appear, allowing treatment to begin quickly. Lifelong management typically includes a carefully controlled diet, specialized medical foods, regular monitoring of amino-acid levels, and an emergency treatment plan for illness or metabolic crisis. Some individuals undergo liver transplantation, which can prevent future metabolic crises but requires major surgery and lifelong medical care.
What is Plowshare working toward? Plowshare is developing PLOW-101, an investigational gene therapy intended to address MSUD types 1A and 1B by delivering functional copies of two genes involved in breaking down branched-chain amino acids. The goal is to address the underlying cause of the disease through a one-time treatment. PLOW-101 has not been approved, and its safety and effectiveness in people has not yet been established.
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What is it? TNNT1 myopathy is a rare inherited muscle disease and a severe form of nemaline myopathy. Changes in the TNNT1 gene prevent the body from producing functional slow skeletal muscle troponin T, a protein needed for normal muscle contraction. Affected children develop progressive muscle weakness and stiffness beginning in infancy. The disease can eventually impair movement, feeding, and breathing, even though cognitive and social development remain intact.
How is it inherited? TNNT1 myopathy is inherited in an autosomal recessive pattern. A child develops the disease after inheriting a disease-causing variant from each parent. When both parents are carriers, each pregnancy has a 25% chance of producing an affected child.s. When both parents are carriers, each pregnancy has a 25% chance of producing a child with MSUD.
Who does it affect? TNNT1 myopathy is extremely rare. The form historically called Amish Nemaline Myopathy occurs more frequently among Old Order Amish families because of a shared founder variant, although other TNNT1 variants and affected families have been identified elsewhere in the world. Symptoms usually begin during infancy and become progressively more severe.
How is it currently managed? There is currently no approved treatment that corrects the underlying genetic cause. Care focuses on supporting the child and managing symptoms through nutritional assistance, physical and occupational therapy, mobility equipment, respiratory monitoring, and breathing support when needed. Families typically work with a multidisciplinary medical team as the disease progresses.
What is Plowshare Working toward? Plowshare has identified TNNT1 myopathy as one of the rare genetic diseases it hopes to address beyond its lead MSUD program. The long-term goal is to explore a treatment directed at the disease’s underlying genetic cause, building on existing natural-history research and the company’s emerging gene-therapy platform. This work remains at an early stage and is not an approved treatment.
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What is it? GM3 synthase deficiency is a rare neurological disease caused by changes in the ST3GAL5 gene. This gene helps the body produce gangliosides—specialized molecules that are particularly important to the development and function of the brain and nervous system. Children with the condition may experience severe developmental impairment, seizures, abnormal movements, hearing or vision problems, feeding difficulties, and disrupted sleep.
How is it inherited? GM3 synthase deficiency is inherited in an autosomal recessive pattern. A child develops the condition after inheriting a disease-causing ST3GAL5 variant from each parent. Parents who carry one variant usually have no symptoms. When both parents are carriers, each pregnancy has a 25% chance of producing an affected child.
Who does it affect? GM3 synthase deficiency is extremely rare but has been diagnosed in families from several populations. A particular founder variant occurs more frequently among Old Order Amish families, where the disease has been studied extensively. Symptoms generally begin in infancy, although their severity and progression can vary.
How is it currently managed? There is currently no approved treatment that corrects the underlying cause of GM3 synthase deficiency. Care is tailored to each child and may include anti-seizure medication, nutritional and feeding support, treatment for reflux, physical and occupational therapy, hearing and vision services, mobility equipment, and other supportive care. Management often requires coordination among several medical specialties.
What is Plowshare Working toward? Plowshare has identified GM3 synthase deficiency as another potential application of its rare-disease development platform. Its long-term aim is to explore a therapy that addresses the underlying ST3GAL5 deficiency, informed by natural-history research and previous preclinical gene-therapy work. This program remains at an early stage and has not produced an approved treatment.
⇒ PUBLISHED RESEARCH
Plowshare’s work builds on decades of peer-reviewed research into the diseases we seek to address. The publications below include research authored or co-authored by Kevin A. Strauss, MD, Plowshare’s founder, CEO, and chief medical officer.
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This preclinical study evaluated a dual-gene therapy designed to address two genetic forms of maple syrup urine disease. In animal models, a single treatment prevented newborn death, normalized growth, restored coordinated expression of the affected genes, and stabilized key disease biomarkers—even with unrestricted protein intake.
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This international study documented the progression of infantile-onset TNNT1 myopathy using clinical outcomes and motor-development measures designed specifically for the disease. The findings provide a clearer picture of its natural history and establish a framework that could support the evaluation of future treatments.
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This preclinical study investigated gene replacement therapy for GM3 synthase deficiency. Researchers developed an approach that restricted ST3GAL5 expression to the central nervous system, restoring brain gangliosides and improving survival and neurological outcomes in disease models while avoiding the liver toxicity observed with an earlier vector design.
⇒ FOR FAMILIES
Living with a rare disease can mean navigating complex medical information, demanding care routines, and questions that few people fully understand. The organizations below offer education, practical resources, and opportunities to connect with others who share similar experiences.
These independent resources are provided for informational purposes and should not replace guidance from your medical team.
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The MSUD Family Support Group provides education, practical tools, advocacy, and community connections for individuals and families affected by maple syrup urine disease. Its resources address topics including nutrition, sick-day care, pregnancy, treatment centers, research, and everyday life with MSUD.
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A Foundation Building Strength supports individuals and families affected by nemaline myopathy while helping advance research toward new treatments. Families can access care guides, support groups, educational materials, community events, and information about registries and research participation.
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Cure GM3 works to advance research and the development of therapies for GM3 synthase deficiency. The organization gives families a place to learn about the condition, follow scientific progress, and support efforts intended to improve the lives of people affected by this exceptionally rare disease.
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The National Organization for Rare Disorders provides disease information, patient-organization directories, advocacy resources, and assistance programs for people affected by rare diseases. Some programs may help eligible families with diagnostic testing, insurance costs, medication, or travel for specialized care and clinical trials.
⇒ FOR CLINICIANS & RESEARCHERS
Clinicians and researchers are essential to advancing the understanding and treatment of rare genetic diseases. The resources below offer detailed information about diagnosis, management, natural history, and ongoing research related to Plowshare’s disease areas.
We also welcome opportunities to exchange knowledge and explore collaborations that may help move promising science toward meaningful treatments.
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This comprehensive clinical reference covers the diagnosis, genetic basis, management, surveillance, and genetic counseling of individuals with maple syrup urine disease. It was co-authored by Kevin A. Strauss, MD, Plowshare’s founder, CEO, and chief medical officer.
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The WiTNNess study follows children and adults with TNNT1-associated muscle disease to better characterize disease progression, identify meaningful clinical outcomes, and establish a foundation for evaluating potential treatments.
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This clinical reference provides detailed information about the diagnosis, genetic testing, characteristic features, symptom management, surveillance, and genetic counseling associated with ST3GAL5-related GM3 synthase deficiency.
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The Clinic for Special Children combines clinical care, laboratory investigation, and collaborative research to improve the diagnosis and treatment of rare genetic diseases. Its published work includes research involving MSUD, TNNT1 myopathy, GM3 synthase deficiency, and other inherited conditions.
⇒ GOVERNANCE & STEWARDSHIP
Plowshare brings together four distinct but closely aligned elements, each contributing to a model designed to advance promising science, steward resources responsibly, and remain accountable to the communities the work is intended to serve.