Ignite Creation Date:
2024-05-05 @ 10:46 PM
Last Modification Date:
2024-10-26 @ 10:23 AM
Study NCT ID:
NCT01182857
Status:
WITHDRAWN
Last Update Posted:
2019-12-17
First Post:
2010-08-14
Brief Title:
Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
Status:
WITHDRAWN
Status Verified Date:
2014-09-25
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Background
Severe combined immunodeficiency SCID is a rare inherited disorder in which certain white blood cells have impaired function and are unable to properly fight infections SCID typically appears within the first year of life and is characterized by multiple recurrent severe infections More than 10 percent of all cases of SCID involve a deficiency of an enzyme called adenosine deaminase ADA and these SCID patients also tend to have impaired brain function or psychiatric disorders Researchers are attempting to treat ADA-SCID patients with an experimental gene therapy and a research protocol has been established for those who are participating in this therapy
Little is known about quality of life in individuals with ADA-SCID but researchers believe that the effects of the disease and the treatments may cause a decreased quality of life in both patients and their parents Another potential cause of decreased quality of life in ADA-SCID is the associated psychiatric and neurological problems caused by the disease Researchers are interested in studying quality of life in individuals with ADA-SCID and their parents to provide more information about the disease
Objectives
To evaluate whether gene therapy alters the quality of life or neuropsychiatric status of children with ADA-SCID
To monitor for intellectual attention memory or specific learning disorders in children with ADA-SCID
To evaluate whether undergoing gene therapy has an effect on parenting stress of parents whose children have ADA-SCID
Eligibility
Children who are participating in the ADA-SCID gene therapy research protocol 01-HG-0189
Parents of children who are participating in the ADA-SCID gene therapy research protocol 01-HG-0189
Design
All of the testing and questionnaires will be done in the pediatric or adult clinic
Participating children will have tests of intelligence manual dexterity reaction time basic reading and arithmetic skills speech and memory These tests will be given before the start of the therapy and then once a year for 5 years
Participating children will also complete questionnaires on quality of life These questionnaires will be given before the start of the therapy 3 months and 6 months after the therapy and then every 6 months for a total of 5 years
Additional psychological tests may be given at the discretion of the study researchers
Parents will complete questionnaires to provide background medical information and report on quality of life and parental stress The background information questionnaires will be given at the start of the therapy and then once a year for 5 years the parental stress questionnaires will be given at the start of the therapy and then every 6 months for 5 years and the quality of life questionnaires will be given at the same time as the child quality of life questionnaires
This protocol is separate from the gene therapy treatment protocol
Severe combined immunodeficiency SCID is a rare inherited disorder in which certain white blood cells have impaired function and are unable to properly fight infections SCID typically appears within the first year of life and is characterized by multiple recurrent severe infections More than 10 percent of all cases of SCID involve a deficiency of an enzyme called adenosine deaminase ADA and these SCID patients also tend to have impaired brain function or psychiatric disorders Researchers are attempting to treat ADA-SCID patients with an experimental gene therapy and a research protocol has been established for those who are participating in this therapy
Little is known about quality of life in individuals with ADA-SCID but researchers believe that the effects of the disease and the treatments may cause a decreased quality of life in both patients and their parents Another potential cause of decreased quality of life in ADA-SCID is the associated psychiatric and neurological problems caused by the disease Researchers are interested in studying quality of life in individuals with ADA-SCID and their parents to provide more information about the disease
Objectives
To evaluate whether gene therapy alters the quality of life or neuropsychiatric status of children with ADA-SCID
To monitor for intellectual attention memory or specific learning disorders in children with ADA-SCID
To evaluate whether undergoing gene therapy has an effect on parenting stress of parents whose children have ADA-SCID
Eligibility
Children who are participating in the ADA-SCID gene therapy research protocol 01-HG-0189
Parents of children who are participating in the ADA-SCID gene therapy research protocol 01-HG-0189
Design
All of the testing and questionnaires will be done in the pediatric or adult clinic
Participating children will have tests of intelligence manual dexterity reaction time basic reading and arithmetic skills speech and memory These tests will be given before the start of the therapy and then once a year for 5 years
Participating children will also complete questionnaires on quality of life These questionnaires will be given before the start of the therapy 3 months and 6 months after the therapy and then every 6 months for a total of 5 years
Additional psychological tests may be given at the discretion of the study researchers
Parents will complete questionnaires to provide background medical information and report on quality of life and parental stress The background information questionnaires will be given at the start of the therapy and then once a year for 5 years the parental stress questionnaires will be given at the start of the therapy and then every 6 months for 5 years and the quality of life questionnaires will be given at the same time as the child quality of life questionnaires
This protocol is separate from the gene therapy treatment protocol
Detailed Description:
The objectives of this study are to measure quality of life neuropsychological sequelae and parental stress before and after gene therapy for ADA-SCID The population to be studied will include up to five patients being treated with gene therapy at the NIH Clinical Center and five of their parents The design of the study will be a non-randomized longitudinal psychometric evaluation Neuropsychological outcome measures will be the following battery Wechsler Preschool and Primary Scale of Intelligence - Third Edition WPPSI-III or the Wechsler Intelligence Scale for Children - Fourth Edition WISC-IV the Wide Range Achievement Test - Fourth Edition WRAT-4 subtests of the NEPSY The Expressive One Word Picture Vocabulary Test EOWPVT Grooved Pegboard Continuous Performance Test CPT Selective Reminding Test and the Adaptive Behavior Assessment System- Second Edition Quality of life will be measured with the PedsQL and parental stress will be measured with the Parenting Stress Index
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 10-HG-0151 | None | None | None |