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

Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Observational

Official Title: Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents

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:

    Detailed Summary: 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.
    Sponsor: National Human Genome Research Institute (NHGRI)

    Current Primary Outcome: Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID. [ Time Frame: 2 years ]

    Original Primary Outcome:

    Current Secondary Outcome: Parental stress in parents of children being treated with gene therapy for ADA-SCID. [ Time Frame: 2 years ]

    Original Secondary Outcome:

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: August 14, 2010
    Date Started: August 5, 2010
    Date Completion: September 25, 2014
    Last Updated: April 19, 2017
    Last Verified: September 25, 2014