ADA-SCID Clinical Trial
Official title:
Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
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.
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. ;
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