ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Mucopolysaccharidosis type I
Gene/Gene Panel: IDUA
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/06/16
Released (Under revision)
1.1.3
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
IDUA ⇔ 0001586 HURLER SYNDROME
Moderate Actionability
Moderate Actionability
2022/04/06
Released
1.1.3
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
IDUA ⇔ 0001586 HURLER SYNDROME
Moderate Actionability
Moderate Actionability
2021/10/20
Released (Under revision)
1.1.2
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
2020/04/28
Released
1.1.2
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
2020/04/28
Released (Under revision)
1.1.1
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
2020/04/22
Released
1.1.1
P
Death due to cardiorespiratory failure (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8CB
Enzyme replacement therapy (GroupA) 8CB
Severe neurocognitive delay (GroupA)
Hematopoietic stem cell transplantation before age 2.5 years (GroupA) 8AB
Enzyme replacement therapy (GroupA) 7AA
2019/10/03
Released (Under revision)
1.1.0
P
Death due to cardiorespiratory failure
Enzyme replacement therapy 8CB
Hematopoietic stem cell transplantation before age 2.5 years 8CB
Severe neurocognitive delay
Enzyme replacement therapy 7AA
Hematopoietic stem cell transplantation before age 2.5 years 8AB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
P
Death due to cardiorespiratory failure
Enzyme replacement therapy 8CB
Hematopoietic stem cell transplantation before age 2.5 years 8CB
Severe neurocognitive delay
Enzyme replacement therapy 7AA
Hematopoietic stem cell transplantation before age 2.5 years 8AB
Internal system migration related to merging adult and pediatric contexts.
2018/11/29
Released
1.0.0
P
Death due to cardiorespiratory failure
Enzyme replacement therapy 8CB
Hematopoietic stem cell transplantation before age 2.5 years 8CB
Severe neurocognitive delay
Enzyme replacement therapy 7AA
Hematopoietic stem cell transplantation before age 2.5 years 8AB
2018/11/14
In Preparation
N/A
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