By Fineline Cube 
The US Food and Drug Administration (FDA) approved Waskyra (etuvetidigene autotemcel) as the first cell‑based gene therapy for Wiskott‑Aldrich syndrome (WAS), a rare, life‑threatening genetic disease. Waskyra is indicated for pediatric patients six months and older and adults with WAS gene mutations who are eligible for HSCT but lack an HLA‑matched related donor.
Regulatory Milestone & Drug Profile
| Attribute | Details |
|---|---|
| Product | Waskyra (etuvetidigene autotemcel) |
| Regulatory Status | FDA approved (first cell-based gene therapy for WAS) |
| Indication | Wiskott‑Aldrich syndrome (WAS) |
| Patient Population | Pediatric patients ≥6 months and adults with WAS gene mutations, no suitable HLA‑matched donor |
| Mechanism | Autologous CD34+ HSPCs transduced with lentiviral vector encoding WAS gene |
| Developer | Fondazione Telethon ETS (Italian non‑profit) |
Disease Profile & Unmet Need
Wiskott‑Aldrich Syndrome (WAS):
- Rare genetic disease: Mutations in WAS gene cause life‑threatening condition
- Clinical Manifestations: Bleeding, eczema, recurrent infections, autoimmunity, lymphoreticular malignancies
- Treatment Gap: Limited to symptomatic management or allogeneic HSCT; HSCT effective only when matched donor available
- Prevalence: ~1‑10 per 1 million males (X‑linked disorder)
Current Limitations:
- HSCT most effective early in life
- Only feasible with HLA‑matched related donors (~30% have suitable donor)
- Unmatched donors increase graft‑vs‑host disease risk
- No approved gene therapy alternatives until Waskyra
Clinical Data & Efficacy
| Study Component | Details |
|---|---|
| Clinical Studies | Two open‑label, single‑arm, multinational studies + expanded access program |
| Total Patients | 27 patients with severe WAS |
| Primary Efficacy | Substantial and sustained clinical benefit |
| Key Outcomes | Significant reductions in primary disease manifestations driving morbidity/mortality |
| Follow‑up | Long‑term durability demonstrated |
Clinical Impact:
- Eliminates need for matched donor search
- Provides curative approach for severely affected patients
- Addresses bleeding, infection, and malignancy risks
Strategic Outlook & Market Context
- Gene Therapy Market: Global gene therapy market projected $35 billion by 2030
- Rare Disease Focus: WAS represents ultra‑rare indication with high unmet need
- Reimbursement: Likely to command premium pricing (estimated $2‑3 million per treatment)
- Manufacturing: Complex autologous process; Fondazione Telethon ETS partnered with commercial manufacturer
- Next Milestones: Real‑world evidence generation; potential pediatric indication expansion
Forward‑Looking Statements
This brief contains forward‑looking statements regarding Waskyra commercialization, manufacturing capacity, and market penetration. Actual results may differ due to manufacturing challenges, reimbursement negotiations, and competitive dynamics.-Fineline Info & Tech