Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants (NCT01512888) | Clinical Trial Compass
SuspendedPhase 1/2
Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants
Stopped: voluntary hold
United States28 participantsStarted 2016-08-17
Plain-language summary
SCID-X1 is a genetic disorder of blood cells caused by DNA changes in a gene that is required for the normal development of the human immune system. The purpose of this study is to determine if a new method, called lentiviral gene transfer, can be used to treat SCID-X1. This method involves transferring a normal copy of the common gamma chain gene into the participant's bone marrow stem cells. The investigators want to determine if the procedure is safe, whether it can be done according to the methods they have developed, and whether the procedure will provide a normal immune system for the patient. It is hoped that this type of gene transfer may offer a new way to treat children with SCID-X1 that do not have a brother or sister who can be used as a donor for stem cell transplantation.
Who can participate
Age range
24 Months
Sex
MALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
\* Treatment Eligibility Criteria:
* Age \<2 years at the time of enrollment.
* No prior therapy with allogeneic stem cell transplantation.
* A clinical diagnosis of SCID-X1 documented in the medical record.
* A proven mutation in the common gamma chain gene as defined by direct sequencing of patient DNA.
* Age \> 2 months to \< 1 year of age at the time of busulfan administration.
* Less than 300 CD3+ T-cells by flow cytometry or higher if evidence of maternal engraftment as supported by peripheral blood FISH analysis for XY and XX.
* Lymphocyte proliferation to phytohemagglutinin (PHA) \<10% of the lower limit of normal for the laboratory.
Treatment Exclusion Criteria:
* Availability of a HLA matched sibling for allogeneic transplantation
* Prior therapy with allogeneic stem cell transplantation
* Positive for HIV infection by genome PCR
* Presence of a medical condition indicating that survival will be less than 16 weeks such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious, progressive infection that is refractory to medical therapy.
* The presence of any medical contraindications to general anesthesia and bone marrow harvest by aspiration
* A social situation indicating that the family may not be able to comply with protocol procedures and recommended medical care.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of patients with adequate cell collection and processing
Timeframe: Day 0
2
Number of patients with adequate neutrophil count recovery after busulfan conditioning
Timeframe: Day 42 post gene transfer
3
Number of patients without Grade 4 adverse event (AE)