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Pediatrics - The Lost Enzyme Project

If you missed the opportunity to participate in Giving Day, it’s not too late to support The Lost Enzyme Project! You may make a gift anytime using our general online giving form: http://bit.ly/lostenzyme.


The road to a rare disease diagnosis is often long and grueling. Those diagnosed with Beta-mannosidosis arrive at a devastating prognosis; Beta-mannosidosis is a progressive disease with no treatment. Patients and their families have struggled to find hope for this under-researched and poorly understood disease.

The Lost Enzyme Project was created by the families of those patients diagnosed in the United States, in collaboration with the Kimonis Lab at the University of California, Irvine to complete the preclinical studies necessary for the development of an enzyme replacement therapy for Beta-mannosidosis.

We are thrilled to announce JCR Pharmaceuticals supports our project to develop β-Mannosidase, the enzyme lost in beta-mannosidosis patients. Using its patented, state of the art, J-Brain Cargo technology, which allows enzymes to be transported across the blood brain barrier (BBB), JCR will engineer β-Mannosidase to allow delivery of the enzyme directly to the brain and body.

JCR will provide us with the experimental therapeutic to test its utility in an animal model of β-Mannosidosis. JCR has also offered us to host a scientist from our lab to learn the basic technologies for this important program.


Beta-mannosidosis (β-mannosidosis) is an extremely rare genetic disease that belongs to a larger group of lysosomal storage disorders (NORD, 2023). Changes in the MANBA gene cause metabolic abnormality, specifically a loss of a functional β-Mannosidase enzyme, resulting in the build-up of toxic materials in the cells throughout the body and brain.

The severity and progression of the disease vary widely in individuals and symptoms can appear in infancy through adulthood. Most affected individuals experience some degree of intellectual disability and delayed motor development. Other signs and symptoms include speech delay, swallowing and hearing difficulties, repeat infections, seizures, gross and fine motor delay, low muscle tone, scoliosis, nystagmus, white matter changes to the brain (leukoencephalopathy), reduced sensations in extremities, and behavioral and psychiatric challenges.


Research for the Lost Enzyme Project will take place at the Kimonis Lab at the University of California, Irvine. Our goal is to raise $520,925 by Aug. 1, 2025, to fund the preclinical studies and research necessary to move into enzyme development with JCR Pharmaceuticals.

The project’s design is intended to support the following goals:

GOAL 1: Clinical characterization and natural history studies

GOAL 2: Utilization of Fribroblast cell lines for translational (treatment) studies

GOAL 3: Translational studies in neuronal cell lines derived from patient iPSCs (induced pluripotent stem cells)

GOAL 4: Conduct scientific lab work including a mouse model

We thank you for donating to the Rare Disease fund this Giving Day in support of the Lost Enzyme Project. The groundbreaking enzyme replacement treatment will transform the outcomes of people diagnosed with Beta-mannosidosis around the world.

To learn more about the Lost Enzyme Project and the patient's stories please click here.

Pediatrics - The Lost Enzyme Project Donor Map
Rank State Gifts
1 CA 1
2 AA 0
2 AE 0
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