Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
NCT ID: NCT01182857
Last Updated: 2019-12-17
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
WITHDRAWN
OBSERVATIONAL
2010-08-05
2014-09-25
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
* 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
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
PROSPECTIVE
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Patients must be enrolled on protocol 01-HG-0189 in order to be eligible for enrollment on this protocol.
* Written informed consent from adult patients, or from the parents or guardians of minor patients must be obtained. Assent must be obtained from minor children when applicable.
* Patients must be English-speaking. Not all of the study instruments have been validated in other languages, and personnel are not available with training to administer the instruments in other languages.
Parents or Guardians
* Parents must have a child enrolled on protocol 01-HG-0189 in order to be eligible for enrollment on this protocol. Guardians must have a ward enrolled on protocol 01-HG-0189 in order to be eligible for enrollment on this protocol.
* Written informed consent must be obtained from parents or guardians.
Exclusion Criteria
* Judgment of the clinical investigators that participation would be detrimental to the patient, parent or guardian.
* Judgment of the clinical investigators that participation would be detrimental to the study.
5 Months
50 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
National Human Genome Research Institute (NHGRI)
NIH
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Robert A Sokolic, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001 Aug;39(8):800-12. doi: 10.1097/00005650-200108000-00006.
Fasth A, Nystrom J. Quality of life and health-care resource utilization among children with primary immunodeficiency receiving home treatment with subcutaneous human immunoglobulin. J Clin Immunol. 2008 Jul;28(4):370-8. doi: 10.1007/s10875-008-9180-9. Epub 2008 Feb 7.
Abidin RR, Wilfong E. Parenting stress and its relationship to child health care. Child Health Care. 1989 Spring;18(2):114-6. doi: 10.1207/s15326888chc1802_9.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
10-HG-0151
Identifier Type: -
Identifier Source: secondary_id
100151
Identifier Type: -
Identifier Source: org_study_id