CRISPR gene editing in human patients: uses in research
Also: Casgevy, exa-cel, NTLA-2001, EDIT-101, base editing, prime editing, sickle cell cure
Clinical trials where CRISPR-based gene editing was given to people, from edited blood stem cells for sickle cell disease to editing genes directly inside the body.
Known properties: CRISPR gene editing in human patients
Only what the cited papers report.
About 80% of BCL11A enhancer alleles were edited in donor stem cells, with no off-target editing detected. doi:10.1056/NEJMoa2031054
A single NTLA-2001 dose of 0.3 mg/kg cut serum TTR protein by a mean of 87% at day 28. doi:10.1056/NEJMoa2107454
Key measured values
Values as stated in the cited paper's abstract.
Property
Value
Source
Sickle cell patients free of severe crises ≥12 months (exa-cel)
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First CRISPR patients with sickle cell and beta-thalassemia
Frangoul and colleagues edited the BCL11A enhancer in patients' own blood stem cells; more than a year after infusion, one patient with beta-thalassemia and one with sickle cell disease had raised fetal hemoglobin, no longer needed transfusions, and (in sickle cell) had no pain crises.
Built / tested: exa-cel (Casgevy)
As reported in: Frangoul, Altshuler, Cappellini et al. (2021). CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. New England Journal of Medicine. doi:10.1056/NEJMoa2031054
Frangoul and colleagues reported that 29 of 30 evaluable patients treated with exa-cel were free of severe vaso-occlusive crises for at least 12 consecutive months.
Built / tested: exa-cel (Casgevy)
As reported in: Frangoul, Locatelli, Sharma et al. (2024). Exagamglogene Autotemcel for Severe Sickle Cell Disease. New England Journal of Medicine. doi:10.1056/NEJMoa2309676
Locatelli and colleagues reported that 32 of 35 evaluable patients with transfusion-dependent beta-thalassemia (91%) became transfusion independent after exa-cel.
Built / tested: exa-cel (Casgevy)
As reported in: Locatelli, Lang, Wall et al. (2024). Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia. New England Journal of Medicine. doi:10.1056/NEJMoa2309673
Gillmore and colleagues gave six patients with hereditary transthyretin amyloidosis a single infusion of NTLA-2001, which edits the TTR gene in the liver; serum TTR fell by a mean of 52% at the lower dose and 87% at the higher dose by day 28, with mostly mild side effects.
Built / tested: NTLA-2001
As reported in: Gillmore, Gane, Taubel et al. (2021). CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. New England Journal of Medicine. doi:10.1056/NEJMoa2107454
Pierce and colleagues ran a phase 1–2 study injecting EDIT-101 under the retina of 12 adults and 2 children with CEP290-associated inherited retinal degeneration (a form of LCA10), with safety as the primary outcome.
Built / tested: EDIT-101
As reported in: Pierce, Aleman, Jayasundera et al. (2024). Gene Editing for CEP290 -Associated Retinal Degeneration. New England Journal of Medicine. doi:10.1056/NEJMoa2309915
Musunuru and colleagues used lipid nanoparticles to deliver an adenine base editor that switched off PCSK9 in monkey livers; blood PCSK9 fell about 90% and LDL cholesterol about 60%, stable for at least 8 months after one dose.
Built / tested: VERVE-101
As reported in: Musunuru, Chadwick, Mizoguchi et al. (2021). In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates. Nature. doi:10.1038/s41586-021-03534-y
Gori and colleagues used prime editing to correct the mutation behind p47phox-deficient chronic granulomatous disease in two patients' own stem cells (PM359); working NADPH oxidase activity appeared in their neutrophils within a month and lasted through follow-up.
Built / tested: PM359
As reported in: Gori, Haddad, Frangoul et al. (2026). Prime Editing for p47 phox -Deficient Chronic Granulomatous Disease. New England Journal of Medicine. doi:10.1056/nejmoa2509807