Table 1.
Patient characteristics before therapy with neoGAA. HCM, hypertrophic cardiomyopathy; PEG, percutaneous endoscopic gastrostomy.
| Case #/sex | Gene 1 | Gene 2 | CRIM status |
Age at diagnosis and ERT initiation | ERT duration before switch | Clinical outcome | Anti-rhGAA antibody titer |
Adverse events while on rhGAA |
|---|---|---|---|---|---|---|---|---|
| #1 M | c.693–2 A > C (IVS3–2 A > C) | c.368G > A (p.Gly123Glu) c.1288G > A (p.Glu430Lys) |
Negative | 3 months | 6 years | Severe hypotonia, HCM, never walking, PEG-tracheostomy | 120,000 | Rash, laryngospasm to anaphylaxis |
| #2 F | c.236_246DEL11 | c.1927G > A | Positive | 11 months | 11 years | PEG, never walking, sensorineural deafness at 5 years | 52,100 | Rash, nausea, epigastric pain |
| #3 F | c.1933G > A | c.1564C > G | Positive | 3 months | 16 years | Sensorineural deafness at 12 years, walking |
400 | None |
| #4 F | c.1933G > A (p.D645N) | c.1933G > A (p.D645N) | Positive | 1 month | 13 years | Scoliosis, ptosis, walking with aid | 0 | None |