Beta-mannosidosis: Path to Treatment and Support

Cure Beta-mannosidosis

“A patient advocacy group dedicated to supporting those affected with Beta-Mannosidosis and the development of new life-saving treatments.“

Countdown Till Kilimanjaro

Climb4Rare Campaign

This September, we are climbing Mount Kilimanjaro (19,341 feet) to raise funds and awareness for research and a life-saving treatment for children with Beta-mannosidosis.

$19,435 of $100,000 raised

Treatment Development Pipeline

Thank you for your continued support!

What is Beta-mannosidosis?

Beta-mannosidosis (β-mannosidosis) is a rare genetic lysosomal storage disorder caused by mutations in the MANBA gene. This leads to a deficiency of the β-Mannosidase enzyme, causing toxic material buildup in cells, affecting the body and brain.

The disease varies widely in severity and can appear from infancy to adulthood. Common symptoms include intellectual disability, motor delays, speech and swallowing difficulties, vision and hearing loss, recurrent infections, seizures, scoliosis, and behavioral challenges.

There is currently no cure for this devastating disease.

Have you or a loved one been diagnosed with Beta-mannosidosis?

Register with us for more support and resources. Together, a stronger community helps us learn more about Beta-Mannosidosis and brings us closer to a cure.

Patients Affected By Beta-mannosidosis

Marco

Marco was diagnosed with Beta-mannosidosis at 7yrs old. He was born with moderate hearing loss and started wearing hearing aids at 3 months old. He was diagnosed with ADHD and low cognitive function in 2023. Marco speech is delayed and receives education assistance at school. Despite all his challenges, Marco is an adorable kid that lives life to the fullest. He loves going camping, cars, bats and playing with friends.

Skylar

Skylar was diagnosed with Beta-mannosidosis one day before her 1st birthday. Over the years, Skylar has lost her hearing, and ability to eat. Skylar has been diagnosed with autism, optic nerve atrophy as well as leukoensepholopathy (changes to the white matter of her brain). Despite these challenges, Skylar is eager to learn and grow. Her smile can light up any room and her joy is contagious. Skylar’s sign name means “brave,” because she does more than just endure, she is a fighter.

Oliver

Oliver was diagnosed with Beta-mannosidosis at the age of 4. He was the first patient diagnosed in the U.S. and underwent an experimental bone marrow transplant at the age of 4, the first in medical history for Beta-mannosidosis. Through research initiated by The Lost Enzyme Project, it was discovered that Oliver has a second rare HSPD1 disorder. Collectively, Oliver’s symptoms continue to progress. He is considered blind, experiences chronic pain, has difficulty with swallowing and speech, and has lost his ability to walk. He desperately needs life-saving Beta-mannosidosis and HSPD1 treatment. Despite his challenges, Oliver loves his life. He has a wonderful sense of humor and a kind heart. Oliver works hard, loves travel, basketball, and all things LA Lakers. Most of all, Oliver believes in the possibility of a better future.

Dean

Dean was diagnosed at the age of 7. He passed all newborn health screens and was meeting all his milestones. Around age 6, he began expressing symptoms of hearing loss and learning disabilities. Genetic testing was recommended and in September 2022, Dean was diagnosed with Beta-mannosidosis. Dean requires hearing aids and receives education assistance in school. Despite his disabilities, Dean is active. He loves Karate, baseball, and hopes to become a cruise ship captain when he grows up.

In the News

Watch the latest highlights from our mission The Lost Enzyme Project

Podcast

Delve into the unique challenges and triumphs of children living with rare disease

Patient Resources

Find information on symptoms, treatments, research updates, and caregiver support

Ground Breaking Research

At The Lost Enzyme Project, we are revolutionizing the approach to Beta-Mannosidosis, an ultra-rare genetic disorder. In collaboration with with leading researchers at the Kimonis Lab our focus is on developing a life-saving enzyme replacement therapy. We aim to deliver treatment that crosses the blood-brain barrier, targeting the brain and body effectively.

Where Your Support Goes

Funds raised may support research, natural history studies, therapeutic development, manufacturing, and related efforts advancing treatments for rare disease. Contributions may also help support operational costs, patient advocacy, outreach, and fundraising efforts that sustain and grow our mission.

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“Together, we can bring hope and innovation to those affected by Beta-Mannosidosis. Join us in our mission to create a future where every child has access to life-changing treatments.”