Severe Combined Immunodeficiency study: AProArt-CD34 vs Busulfan
Official title Autologous Gene Therapy for Artemis-Deficient SCID
ClinicalTrials.gov ID: NCT03538899
What this study is testing
What is AProArt-CD34?
This is an investigational gene therapy being studied as a potential treatment for Artemis-deficient Severe Combined Immunodeficiency (ART-SCID). It is designed to work by adding a normal copy of the DCLRE1C gene into the patient's own stem cells to help them make a functioning immune system.
Also referred to as lentiviral gene therapy using AProArt.
Plain-language explanation of the investigational treatment. It is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- The study will see if adding a normal DCLRE1C gene to the patient’s stem cells is safe and can create a functioning immune system.
- Who it's for
- Children newly diagnosed with Artemis‑deficient severe combined immunodeficiency who have no suitable sibling donor.
- What's involved
- Participants will receive a chemotherapy drug (busulfan) to prepare their body, then an infusion of their own stem cells that have been modified with a virus to carry a normal DCLRE1C gene. They will have regular check‑ups and lab tests.
- Time commitment
- Follow‑up lasts up to 15 years with scheduled visits after the infusion.
- Phase 2: a mid-size study of how well it works
- Which group you join is decided by chance.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 2 and older
You may be able to join if
- ≥2.0 months of age at initiation of busulfan conditioning
- Artemis deficiency with bi-allelic pathogenic or likely pathogenic mutations in DCLRE1C; AND
- CD3 count \ 50/µL and \<300/uL and with restricted T cell receptor Vb diversity; AND
- CD45 cell response to mitogens (PHA) \< 50% of the lower limit of normal range for the lab (leaky ART-SCID).
- No medically eligible HLA-identical sibling with a normal immune system who could serve as an allogeneic bone marrow donor (applies to newly...
You likely can't join if
- Presence of a medically eligible HLA-matched sibling
- Evidence of HIV infection by polymerase chain reaction or p24 antigen testing.
- Unable to tolerate general anesthesia and/or marrow harvest or insertion of central venous catheter.
- Any one of liver function tests AST, ALT, gamma-glutamyl transpeptidase (GGT) \>5X the upper limit of normal for lab and/or total bilirubin \>2.0...
- Presence of any severe medical conditions making a patient unsuitable for busulfan administration
- Presence of a recognized second gene mutation that results in an autosomal dominant or recessive disorder intrinsic to hematopoietic cells and that...
See the full eligibility criteria
- ≥2.0 months of age at initiation of busulfan conditioning
- Artemis deficiency with bi-allelic pathogenic or likely pathogenic mutations in DCLRE1C; AND
- CD3 count \ 50/µL and \<300/uL and with restricted T cell receptor Vb diversity; AND
- CD45 cell response to mitogens (PHA) \< 50% of the lower limit of normal range for the lab (leaky ART-SCID).
- No medically eligible HLA-identical sibling with a normal immune system who could serve as an allogeneic bone marrow donor (applies to newly diagnosed patients only).
- Presence of a medically eligible HLA-matched sibling
- Evidence of HIV infection by polymerase chain reaction or p24 antigen testing.
- Unable to tolerate general anesthesia and/or marrow harvest or insertion of central venous catheter.
- Any one of liver function tests AST, ALT, gamma-glutamyl transpeptidase (GGT) \>5X the upper limit of normal for lab and/or total bilirubin \>2.0 mg/dl (not due to Gilbert's) at the time of planned initiation of...
- Presence of any severe medical conditions making a patient unsuitable for busulfan administration
- Presence of a recognized second gene mutation that results in an autosomal dominant or recessive disorder intrinsic to hematopoietic cells and that could be treated by an allogeneic HCT.
- Presence of a medical condition indicating that survival is predicted to be less than 4 months, such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious...
- A social situation indicating that the family may not be able to comply with protocol procedures and recommended medical care and follow-up.
- Other conditions which in the opinion of the Principal Investigator and/or co-investigators, contra-indicate the infusion of transduced cells or study participation.
The study team makes the final eligibility decision.
Where it is enrolling
- San Francisco, California, United States
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part, but confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 2 months and older. The study team makes the final eligibility decision.
Where is this trial taking place?
This study is enrolling now at San Francisco, California, United States. Enter your location above to see the nearest enrolling site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool that is independent of the study sponsor. Details come from ClinicalTrials.gov. The study team decides eligibility, and your own doctor gives medical advice.