THERAPEUTIC AREAS

There are approximately 7,000 rare diseases, yet only five percent have FDA-approved treatments.¹

On average, it takes more than five years to obtain a rare disease diagnosis due to limited professional knowledge of the signs and symptoms.¹

40%

40% of people living with rare disease are misdiagnosed at least once.²

Therapeutic Areas

These are the conditions for which we have an approved therapy or a research and development program.

Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)

Cerebrotendinous Xanthomatosis (CTX)

Cystinuria

Bile Acid Synthesis Disorders (BASD)

Focal Segmental Glomerulosclerosis (FSGS)

IgA Nephropathy (IgAN)

Classical Homocystinuria (HCU)

Alagille Syndrome (ALGS)

N-Glycanase 1 (NGLY1) Deficiency

References
1. Global Genes
2. EURORDIS

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