Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Guffon, N.; Pettazzoni, M.; Pangaud, N.; Garin, C.; Lina-Granade, G.; Plault, C.; Mottolese, C.; Froissart, R.; Fouilhoux, A.

doi:10.1186/s13023-020-01644-w

Orphanet Journal of Rare Diseases

Table 2 Engraftment, genotype severity, IDUA activity, chimerism, ERT, GVHD

From: Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

ID	Genotype	Quantitative Urinary GAG mg/g creatinine		IDUA, % of day control^{^^}		ERT	Age at HSCT (months)	Donor type			Cell dose		Chimerism post-transplantation
ID	Genotype	Initial	Current^{^^}	Leukocytes [ukat/kg] [NR: 3.4–11.8]	Serum [nkat/l] [NR: 1.50–4.9]	ERT	Age at HSCT (months)			HLA	TNC/kg	GVHD	1 month (%)	2 years (%)	5 years (%)	Current^{^^} (%)
1	W402X/Q70X	232 DS++ HS +	6.2 DS- HS-	[10.3] 100%	[1.70] 85%	No	14	BMT	HO sibling	10/10	1.3	C, GI	> 95	> 95	> 95	> 95
2	Q70X/c.1190-10C > A	184 DS++ HS+	7.1 DS++ HS± (pré-ERT 14 DS++ HS +)	[12.3] 112% (pre-ERT [5.7] 79%)	[0.50] 25% (pre-ERT [0.12] 10%)	24 y post HSCT	58	BMT	HO sibling	10/10	3.2		> 95	40	50	34
3	W402X/134del12	177 DS++ HS+	5.0 DS+ HS+	[10.2] 94%	[1.60] 80%	No	42	BMT^u		9/10 MM A	4.7	C, D, GI	> 95	> 95	> 95	> 95
4	W402X/W402X	247 DS+++ HS+	4.8 DS+ HS+	[4.1]43%	[0.50] 22%	No	14	BMT	HET father	10/10	9.2		> 95	> 95	> 95	> 95
5	1041_1042 del CA/1041_1042 del CA	179 DS+++ HS+	4.8 DS+ HS±	[7.1] 79%	[1.74] 33%	No	42	CB	HET sibling	10/10	0.7	H, GI	54	88	88	85
6	1124 del C /W402X	181 DS+++ HS+	7.9 DS± HS± (pre-ERT 29 DS+ HS-)	[5.3] 84% (pre-ERT 2.2 30%)	[0.26] 0.1% (pre-ERT [0.6] 0.1%)	7 y post HSCT	23	BMT^u		7/10 MM B, 2Cw	9.1		95	20	10	59^**
7	W402X/Q70X	231 DS++++ HS++	8.2 DS+ HS+	[6.9] 66%	[0.44] 15%	No	14	BMT	HET sibling	10/10	4.0		> 95	> 95	> 95	> 95
8	c.50_61del12/W402X	116 DS+++ HS+	4.6 DS+ HS+	[12.1] 102%	[1.04] 37%	No	21	BMT^u		10/10	8.0		> 95	> 95	> 95	> 95
9	W402X/W402X	195 DS+++ HS+	5.1 DS± HS±	[8.4] 80%	[2.46] 84%	No	25	BMT^u		7/10 MM A, 2Cw	5.3		80	50	60	82
10	W402X/W402X	198 DS++++ HS+	5.2 DS± HS±	[10.9] 116%	[1.8] 107%	No	26	BMT^u$		8/10 MM A, Cw	5.0		> 95	> 95	> 95	> 95
11	Q70X/W402X	94 DS+++ HS++	4.6 DS± HS+	[7.7] 90%	[1.10] 49%	No	16	UBMT		10/10	6.0		> 95	> 95	> 95	> 95
12	W402X/Q70X	121 DS+++ HS++	5.1 DS+ HS± (pre-ERT 9.6 DS++ HS±)	[7.6] 63% (pre-ERT [3.4] 29%)	[1.06] 32% (pre-ERT [0.43] 22%)	14.5 y post HSCT	20	BMT^u		7/10 MM A, 2Cw	8.4		100	40	68	70
13	Q70X/A327P	108 DS++++ HS+++	3.9 DS± HS± (pre-ERT 24.7 DS++ HS±)	[11.5] 100% (pre-ERT [3.8] 44%)	[1.54] 44% (pre-ERT [0.6] 6%)	6 y post HSCT	35	BMT	HET sibling	10/10	4.5		NC	50	30	52
14	W402X/W402X	169 DS+++ HS++	4.3 DS± HS-	[12] 115%	[0.71] 22%	No	25	BMT^u		7/10 MM A B DRB4	10.6		> 95	> 95	> 95	> 95
15	P533R/c.1273_1274insC	116 DS+++ HS++	3.9 DS+ HS+	[8.8] 70%	[1.41] 52%	No	23	BMT^u		7/10 MM B C DQB1	7.3		> 95	> 95	> 95	> 95
16	W402X/W402X	182 DS+++ HS++	4.9 DS± HS±	[6.5] 63%	[0.57] 36%	No	12	BMT	HET sibling	10/10	6.2	C, D, GI	> 95	> 95	> 95	> 95
17	W402X/Y581X	167 DS+++ HS++	3.2 DS+ HS±	[14.8] 117%	[1.62] 60%	No	21	BMT^u		7/10 MM A B Cw	9.7	D, GI	> 95	> 95	> 95	> 95
18	W402X/W402X	150 DS+++ HS++	5.7 DS+ HS±	[3.5] 37% (pre-ERT [0.8] 20%)	[0.30] 13% (pre-ERT [0.04] 0.01%	1.6 y post HSCT	18	BMT^u		10/10	9.1		75	35	44	47
19	Q70X/W402X	high level*	4.5 DS+ HS+	[10.1] 93%	[1.40] 70%	No	28	BMT^u$		9/10 MM B	13.4	C, D, O, H, GI	> 95	> 95	> 95	> 95
20	W402X/W402X	110 DS++++ HS++	5.6 DS+ HS+	[12.2] 120%	[1.60] 130%	No	25	BMT^u		10/10	9.6	C, D, GI	> 95	> 95	> 95	> 95
21	Q70X/W402X	161.5 DS++++ HS++	7.0 DS+ HS+	[7.9] 94%	[0.74] 43%	No	20	BMT^u		10/10	5.4		> 95	> 95	> 95	> 95
22	W402X/W402X	80	7.1 DS+ HS+	[9.2] 84%	[1.10] 55%	peri-HSCT (10 months)	31	BMT^u		10/10	8.2	C, D, GI	> 95	> 95	> 95	> 95
23	Q70X/c.792 + 1G > A in intron 5	241	20.8 DS+ HS±	[4.3] 40%	[0.50] 19%	peri-HSCT (4 months)	13	BMT	HET sibling	10/10	4.3		> 95	> 95	> 95	> 95
24	ND in USA	high level* (USA)	10.9 DS+ HS±	[10.0] 105%	[1.20] 52%	No	12	CB^u		4/6 MM A, B	1.2	C, GI	> 95	> 95	> 95	> 95
25	W402X/W402X	156	ND	[13.9] 124%	[0.80] 31%	peri-HSCT (6 months)	13	CB^u		5/6 MM A	1.5		> 95	> 95	> 95	> 95

^{^^}At most recent evaluation; ^$reporting only the successful (last) transplantation; NR normal range, BMT bone marrow transplant; ^uunknown source; CB cord blood, HO homozygous, HET heterozygous;
GAGu: [Normal range 8–29 mg/g creatinine (1–3 years of age); 6–23 mg/g creatinine (3–7 years of age); 3–16 mg/g creatinine (7–15 years of age); 1–15 mg/g creatinine (15–20 years of age); 1–8 (20 + years of age)]
DS dermatan sulphate, HS heparan sulfate; -, ±, +, ++,+++
GVHD graft versus host disease, H hepatic, C cutaneous, D digestive, O ophthalmic, GI gastrointestinal
^**Prior to death; NC = non quantifyable; ND = not done; *different assay used

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ISSN: 1750-1172

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