Genomenon and Amicus Therapeutics
Background
Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene. It primarily affects the kidneys, heart, and nervous system. Early diagnosis is crucial for effective management and treatment. Amicus’s therapy is only applicable for certain variants in GLA, so individual variants where their therapy could be used were required to be listed on the label.
The Challenge
The FDA required Amicus to prove that a variant was disease-causative in order for it to be included on the label. This process is very time consuming and is fraught with error. Previously Amicus spent over two years gathering evidence for small handful of variants.
Additionally, despite advances in genome sequencing, diagnosis of Fabry disease remains challenging due to:
- Genetic Variability: Numerous disease-causing variants exist, making it difficult to interpret the variants.
- Documentation Inconsistencies: Clinicians struggle to assess and document genomic evidence accurately.
- Limited communication: Limited discussion about clinical trials as treatment options can be a roadblock to patient participation.
The Solution
Variant Landscape: Genomenon meticulously curated the genetic variants associated with Fabry’s disease for Amicus Therapeutics.
Label Expansion: Genomenon’s curated variant landscape allowed Amicus to collect the appropriate and sufficient content to justify expansion of their existing FDA label.
Impact
Variant Landscape Creation: Genomenon curated a variant landscape for Fabry disease, providing proof points to the FDA. This led to an expanded label, allowing broader use of therapies.
Expanded Label: The FDA’s expanded label positively impacted patient access and awareness, ensuring more patients could benefit from treatment.
Regulatory Support: Genomenon and Amicus collaborated on a new format for submitting variant evidence to the FDA, streamlining regulatory processes.
In summary, Genomenon curated a comprehensive variant landscape for Fabry disease, providing essential proof points to the FDA. As a result, the FDA expanded the label, allowing broader use of therapies. This expansion positively impacted patient access, awareness, and overall disease management. Additionally, Genomenon’s collaboration streamlined variant evidence submission to regulatory authorities, enhancing the approval process.
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