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Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT01182857
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact
Status Withdrawn
Phase
Start date August 5, 2010
Completion date September 25, 2014

See also
  Status Clinical Trial Phase
Enrolling by invitation NCT01346150 - Patients Treated for SCID (1968-Present)
Completed NCT01420627 - EZN-2279 in Patients With ADA-SCID Phase 3
Completed NCT02022696 - Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Phase 1
Completed NCT01852071 - Autologous CD34+ Hematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1 Alpha Shortened (EFS) Lentiviral Vector Encoding for the Human ADA Gene Phase 1/Phase 2