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

NCT01182857 | Withdrawn

• 2 other identifiers: 10015110-HG-0151
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

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.

Conditions

ADA-SCID

Keywords

Quality of Life; Gene Therapy; ADA-SCID; SCID-ADA; Severe Combined Immunodeficiency

Outcome Measures

Primary Outcomes (1)

• Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID.

  2 years

Secondary Outcomes (1)

• Parental stress in parents of children being treated with gene therapy for ADA-SCID.

  2 years

Eligibility Criteria

• Age: 5 Months - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Patients:
• 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.

You may not qualify if:

• Inability to complete the study instruments. This includes inability to speak English. Not all of the study instruments have been validated in other languages, and personnel are not available to administer the test instruments in other languages.
• 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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Related Publications (3)

• 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.

  PMID: 11468499 BACKGROUND

• 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.

  PMID: 18256911 BACKGROUND

• 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.

  PMID: 10292918 BACKGROUND

MeSH Terms

Conditions

Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe Combined Immunodeficiency

Condition Hierarchy (Ancestors)

Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Study Officials

• Robert A Sokolic, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 14, 2010
• First Posted: August 17, 2010
• Study Start: August 5, 2010
• Study Completion: September 25, 2014
• Last Updated: December 17, 2019

Record last verified: 2014-09-25