Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants

• Register: ClinicalTrials.gov
• Last refreshed on: 29 April 2024
• Main ID: NCT01512888
• Date of registration: 13/01/2012
• Prospective Registration: Yes
• Primary sponsor: St. Jude Children's Research Hospital
• Public title: Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants LVXSCID-ND
• Scientific title: A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Using a Self-Inactivating Lentiviral Vector to Transduce Autologous CD34+ Hematopoietic Cells
• Date of first enrolment: August 17, 2016
• Target sample size: 28
• Recruitment status: Suspended
• URL: https://clinicaltrials.gov/ct2/show/NCT01512888
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Stephen Gottschalk, MD
• Affiliation: St. Jude Children's Research Hospital

Key inclusion & exclusion criteria

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.



Age minimum: N/A
Age maximum: 24 Months
Gender: Male

Health Condition(s) or Problem(s) studied

Severe Combined Immunodeficiency Disease, X-linked

Intervention(s)

Drug: Busulfan

Device: CliniMacs

Genetic: CL20-i4-EF1a-h?c-OPT

Primary Outcome(s)

Number of patients with adequate cell collection and processing [Time Frame: Day 0]

Number of patients with treatment failure [Time Frame: 42 days post gene transfer]

Number of patients with adequate neutrophil count recovery after busulfan conditioning [Time Frame: Day 42 post gene transfer]

Number of patients with successful reconstitution [Time Frame: 42 days post gene transfer]

Number of patients without Grade 4 adverse event (AE) [Time Frame: 42 days post gene transfer]

Secondary ID(s)

P01HL053749

LVXSCID-ND

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Heart, Lung, and Blood Institute (NHLBI)

Assisi Foundation

California Institute for Regenerative Medicine (CIRM)