Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any - 50 |
| Updated: | 11/8/2014 |
| Start Date: | August 2010 |
| Contact: | Robert A Sokolic, M.D. |
| Email: | sokolicr@mail.nih.gov |
| Phone: | (301) 451-1498 |
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.
- 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.
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.
- INCLUSION CRITERIA:
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.
EXCLUSION CRITERIA:
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-4000
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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