Transforming Treatment for Lysosomal Storage Disorders
Delivering gene and RNA therapies to correct enzyme deficiencies and protect the brain
Understanding Lysosomal Storage Disorders
Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic diseases caused by defects in specific lysosomal enzymes, transport proteins, or cofactors.
When these enzymes are defective, undegraded substrates accumulate inside cells, leading to progressive multi-organ dysfunction affecting the CNS, musculoskeletal system, cardiovascular system, liver, spleen, eyes, and skin.
More than 50 distinct LSDs have been identified, affecting an estimated 1 in 5,000 to 7,000 live births worldwide.
Symptoms and Systemic Impact
LSDs affect multiple organ systems with varying severity and progression
Neurological
- • Developmental delay
- • Seizures
- • Loss of motor skills
- • Hearing or vision loss
Cardiac & Skeletal
- • Heart valve thickening
- • Cardiomyopathy
- • Short stature
- • Joint stiffness
Other Systems
- • Hepatomegaly
- • Splenomegaly
- • Coarse facial features
- • Frequent infections
Current Treatment Landscape
Existing therapies have limitations, particularly for CNS involvement
Enzyme Replacement Therapy
IV infusion of recombinant enzyme. Limited CNS penetration.
Substrate Reduction Therapy
Oral medications to decrease substrate production.
Stem Cell Transplantation
Continuous enzyme source for selected LSDs when performed early.
Supportive Care
Symptom management and quality-of-life support.
Symptom management and quality-of-life support.
- •CNS-penetrating vectors for neurological LSDs.
- • Multi-organ systemic enzyme restoration.
- • Multi-organ systemic enzyme restoration.
- • Platform adaptable to multiple LSDs.
Research and Development Progress
Platform Validation
Multiple LSD models tested
CNS Biodistribution
Blood-brain barrier crossing confirmed
Preclinical Efficacy
Enzyme restoration demonstrated
Regulatory Engagement
Pathway discussions initiated
Advocacy & Community Support
We are committed to supporting patients and families through educational resources, genetic counseling, and clinical trial guidance.
- Educational resources on LSD diagnosis and care
- Genetic counseling for at-risk families
- Clinical trial guidance and access support
- Advocacy partnerships for global awareness
Patient Organizations
Global network partnerships
Patient Organizations
Global network partnerships
Partner With Us
Join us in advancing gene therapy solutions for lysosomal storage disorders through collaborative research and clinical development.
