ADA-SCIDNCT01182857
Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
An observational study of ADA-SCID, run by National Human Genome Research Institute (NHGRI).
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. Read more about this study
- Who is it for?
- Ages 5 months to 50 years
- Conditions the study is for
- ADA-SCID
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- 5 Aug 2010to 25 Sep 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 months to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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.
About this study
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.
Read more
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.
Read the detailed 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.
- Conditions
- ADA-SCID
- Keywords
- Quality of Life, Gene Therapy, ADA-SCID, SCID-ADA, Severe Combined Immunodeficiency
- Medical subject headings
- Severe combined immunodeficiency due to adenosine deaminase deficiency, Severe Combined Immunodeficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID.
Measured: 2 years
Secondary outcomes (1)
Parental stress in parents of children being treated with gene therapy for ADA-SCID.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2010 (estimated)
- Study start5 Aug 2010
- Study completion25 Sep 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for ADA-SCIDStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Robert A Sokolic, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01182857
- Sponsor's protocol ID
- 100151
- Other IDs
- 10-HG-0151
- Status last verified
- 25 Sep 2014
- First submitted
- 14 Aug 2010
- Last updated
- 17 Dec 2019
- Results posted
- No
Publications
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.
PubMed 11468499Fasth 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.
PubMed 18256911Abidin 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.
PubMed 10292918
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents
- ClinicalTrials.gov ID
- NCT01182857
- Acronym / sponsor ID
- 100151
- Conditions
- ADA-SCID
- Keywords
- Quality of Life, Gene Therapy, ADA-SCID, SCID-ADA, Severe Combined Immunodeficiency
- Study type
- Observational
- Recruitment status
- Withdrawn
- Enrolment
- 0 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 5 Aug 2010
- Study completion
- 25 Sep 2014
- First posted
- 17 Aug 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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
- Time perspective
- Prospective
Who may qualify
- Ages
- 5 months to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID.
Time frame: 2 years
1 secondary outcome
Parental stress in parents of children being treated with gene therapy for ADA-SCID.
Time frame: 2 years
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2019.
- Background: PubMed 11468499Varni 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.
- Background: PubMed 18256911Fasth 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.
- Background: PubMed 10292918Abidin 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.
Related trials for ADA-SCID
Not yet recruiting
Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)
Adenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)
Active, not recruitingPhase 1/2
Gene Therapy for Adenosine Deaminase Severe Combined Immune Deficiency Using Peripheral Blood and EFS ADA Vector
Adenosine Deaminase Severe Combined Immune Deficiency
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Enrolling by invitationObservational study
Strimvelis Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)
Immunologic Deficiency Syndromes
Enrolling by invitationObservational study
An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID
Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency (SCID)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert A Sokolic, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
Questions about this trial
What is this clinical trial studying?
An observational study of ADA-SCID, run by National Human Genome Research Institute (NHGRI).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 17 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID. (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01182857, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Dec 2019.