ABCMdb

PMID: 11485629

Joseph PM, O'Sullivan BP, Lapey A, Dorkin H, Oren J, Balfour R, Perricone MA, Rosenberg M, Wadsworth SC, Smith AE, St George JA, Meeker DP
Aerosol and lobar administration of a recombinant adenovirus to individuals with cystic fibrosis. I. Methods, safety, and clinical implications.
Hum Gene Ther. 2001 Jul 20;12(11):1369-82., 2001-07-20 [PubMed]

Sentences

No. Mutations Sentence Comment

170 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Ala455Leu DAY 1 CLINICAL CHARACTERISTICS OF SUBJECTS RECEIVING LOBAR ADMINISTRATION OF VECTOR Age FEV1 Dose Subject Sex (years) (% pred) NIH score Genotype Vector (IU) 1 M 31 2.31/50 69 DF508/DF508 Ad2/CFTR2 8 3 106 2 M 26 3.92/81 87 DF508/R117H Ad2/CFTR2 8 3 106 3 M 23 1.59/38a 67 DF508/DF508 Ad2/CFTR2 8 3 106 4 F 23 1.55/46 65 DF508/R117H Ad2/CFTR2 2.5 3 107 5 M 30 3.19/79 85 DF508/DF508 Ad2/CFTR2 2.5 3 107 6 M 27 4.18/99 87 DF508/W1282X Ad2/CFTR2 2.5 3 107 7 F 33 1.47/50 70 DF508/R3342 Ad2/CFTR2 8 3 107 8 F 28 2.0968 78 G542X/Other Ad2/CFTR2 8 3 107 9 M 15 3.80/94 93 DF508/A455L Ad2/CFTR2 8 3 107 10 F 33 2.47/75 92 DF508/Other Ad2/CFTR2 2.5 3 108 11 M 17 3.82/84 95 DF508/DF508 Ad2/CFTR2 2.5 3 108 12 F 22 1.71/53 77 DF508/Other Ad2/CFTR2 2.5 3 108 13 F 23 1.72/58 85 DF508/DF508 Ad2/CFTR8 2.5 3 108 14 F 19 2.71/61 85 DF508/Other Ad2/CFTR8 2.5 3 108 15 F 35 1.77/63 81 DF508/DF508 Ad2/CFTR8 8 3 108 16 M 38 1.70/41 81 DF508/W1282X Ad2/CFTR8 8 3 108 17 M 27 3.42/69 86 DF508/DF508 Ad2/CFTR8 8 3 108 18 M 15 3.97/85 97 DF508/DF508 Ad2/CFTR8 2.5 3 109 19 F 17 2.66/75 77 DF508/DF508 Ad2/CFTR8 2.5 3 109 20 M 24 3.35/78 93 DF508/DF508 Ad2/CFTR8 2.5 3 109 11 M/9F Average: 25.3 2.64/67.4 81.85 aFEV1 1.77 (42%) at enrollment. as well as vector type and dose for the lobar and aerosol administration groups, respectively. Login to comment 201 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* DAY 1 CLINICAL CHARACTERISTICS OF SUBJECTS RECEIVING AEROSOL ADMINISTRATION OF VECTOR a Age FEV1 Dose Subject Sex (years) (% pred) NIH score Genotype Vector (IU) 21 F 32 3.63/112 85 DF508/R117H Ad2/CFTR2 8 3 106 22 F 28 3.38/77 91 DF508/other Ad2/CFTR2 8 3 106 23 F 28 1.30/39b 83 DF508/other Ad2/CFTR8 2.5 3 107 24 M 18 3.51/71 96 DF508/other Ad2/CFTR8 2.5 3 107 25 F 37 1.81/61 83 DF508/DF508 Ad2/CFTR8 8 3 107 26 F 18 3.53/92 93 DF508/DF508 Ad2/CFTR8 8 3 107 27 F 27 2.24/77 81 G551D/621-1GT Ad2/CFTR8 2.5 3 108 28a M 25 4.22/93 97 G2111GT/G542X Ad2/CFTR8 2.5 3 108 29 M 15 2.01/85 90 other/other Ad2/CFTR8 8 3 108 30 M 18 4.06/109 96 DF508/3489110kbC-T Ad2/CFTR8 8 3 108 31 M 40 3.81/71 75 DF508/3849110kbC-T Ad2/CFTR8 2.5 3 109 32 F 17 2.29/75 92 DF508/G542X Ad2/CFTR8 2.5 3 109 33 F 21 2.99/89 95 DF508/DF508 Ad2/CFTR8 8 3 109 34 M 15 3.37/95 94 DF508/I507 Ad2/CFTR8 8 3 109 35a M 26 3.45/77 97 G2111GT/G542X Ad2/CFTR8 2.5 3 1010 36a F 35 2.4/74 89 DF508/other Ad2/CFTR8 2.4 3 1010 7 M/9 F 25 3.0/81.1 89.8 aPatient 10 (lobar administration) and patient 36 are one individual; patient 28 and 35 are another single individual. Login to comment 338 ABCC7 p.Ala455Glu Further supporting the idea that only a small percentage of cells need be corrected to overcome the life-threatening pulmonary consequencesof CF is the fact that the A455E mutation, which is associated with approximately 5% normal CFTR function, appears to confer a mild pulmonary phenotype (Gan et al., 1995; Davies et al., 1998). Login to comment