Neurofibromatosis Type 1
Overview
Large Impact: Though classified as a rare disease, NF1 affects 1in 3,000 people, impacting 125,000 individuals in the U.S., 250,000 in Europe, and 2.5 million worldwide. NF1 is more prevalent than Duchenne Muscular Dystrophy, Cystic Fibrosis, Tay-Sachs and Huntington’s disease combined!
Limited Treatment Options: Only two FDA-approved, disease-specific, treatment options — Koselugo and Gomekli — exist for NF1. These target only one of many pathways impacted in NF1 and are approved to treat a limited subset of NF1-related tumors.
Genetics: Discovered in 1990, the NF1 gene is among the largest human genes, spanning 350,000 base pairs in the genome.
Many Unique Mutations: Over 4,000 unique NF1 mutations have already been identified in individuals living with NF1. iNFixion is committed to developing treatments that are effective across all NF1 mutations.
NF1 Features
Symptoms and Complications
The impact of NF1 gene mutations varies in severity, but generally involves symptoms of the nervous system, skin, skeleton, and cardiovascular system, including an increased risk of cancer.
Treatment is typically reactive, addressing symptoms as they arise with options like tumor resection, spinal fusion, pain or ADHD medications, school interventions, and systemic tumor therapies. iNFixion aims to change this paradigm.
The most common manifestations attributed to NF1 include:
- Skin neurofibromas: Benign tumors (98+%)
- Plexiform neurofibromas: Large, complex nerve tumors, often causing deformities and pain (30-50%)
- Cognitive and social deficits: Impairments in learning, executive function, and communication (60-80%)
- Bone abnormalities: Includes scoliosis (30-40%) and osteopenia
- Optic nerve gliomas: Can lead to vision loss and hormonal imbalances (10-20%)
- Café-au-lait macules: Hyperpigmented skin spots (99%)
- Cancer and cardiovascular risk: Higher rates of cancers and heart disease, occurring twice as often as in the general population
SKIN NEUROFIBROMAS
CAFE-AU-LAIT MACULES
PLEXIFORM TUMOR
SCOLIOSIS