Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Table 1 Baseline patient and treatment characteristics

Patient characteristics:		N	%	Median	Range
All MPS I		61
	Gender (male/female)	38/23	62/38
	Phenotype (Hurler/Attenuated)	44/17	69/31
	Age @ Start of treatment (mths)			18	3-364
	Age @ final assessment (mths)			82	0.3-420
HSCT treated Hurler patient characteristics
	Gender (male/female)	30/14
	Age @ Start of treatment (mths)			14	3-30
	Age @ final assessment (mths)			66	11-203
	Interventions
	Therapeutic airway intervention post-HSCT	3	7%	Adenotonsillar surgery: 2 pts (1 had revision). Longterm O₂: 1
	Treatments and metabolic characteristics
	No HSCT (1/2/3)	32/8/1	78/20/2
	Source (CB/BM/PBSC/Unknown)	17/15/7/2	41/37/17/5
	Donor (Related/MUD)	15/26	37/63
	IDUA @ 1 year post HSCT	36		30.0	6.3-87.0
	Heterozygote Donors	12		19.7	6.7-49.4
	Matched Unrelated Donors	24		34.6	17.7-87.0
	Pre HSCT DS:CS ratio	20		1.6	0.7-3.4
	DS:CS ratio @ 1 year	32		0.5	0.2-0.8
ERT treated Hurler Patients
	Gender (male/female)	2/1
	Age @ Start of treatment (mths)			85	74-144
	Age @ final assessment (mths)			123	98-148
ERT Treated attenuated patients
	Gender (male/female)	9/8
	Age @ Start of treatment (mths)			60	24-364
	Age @ final assessment (mths)			131	72-420
	Interventions
	Therapeutic airway intervention on ERT	7	41%	CPAP: 5 pts
	Therapeutic airway intervention on ERT	7	41%	Adenotonsillar Surgery: 2 pts (1 had revision)
	Metabolic characteristics
	Pre ERT DS:CS ratio	5		1.9	1.1-2.7
	DS:CS ratio @ 1 year	13		0.8	0.4-2.2

All characteristics concern the last HSCT. BM indicates bone marrow; CB, cord blood; IDUA, alpha-L-iduronidase enzyme level; mths, months; MUD, matched unrelated donor; N, number; PBSC, peripheral blood stem cells.

ISSN: 1750-1172