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

December 14, 2019 updated by: National Human Genome Research Institute (NHGRI)

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Withdrawn

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

3 years to 46 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Quality of life and neuropsychiatric status of patients being treated with gene therapy for ADA-SCID.
Time Frame: 2 years
2 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Parental stress in parents of children being treated with gene therapy for ADA-SCID.
Time Frame: 2 years
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
National Human Genome Research Institute (NHGRI)

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Robert A Sokolic, M.D., National Human Genome Research Institute (NHGRI)

Publications and helpful links

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General Publications

Study record dates

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Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 5, 2010

Study Completion

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 25, 2014

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 14, 2010

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 14, 2010

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
August 17, 2010

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
December 17, 2019

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 14, 2019

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 25, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 100151
  • 10-HG-0151

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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