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Gene Therapy for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID)

This study is testing a new gene therapy called AProArt-CD34 for children with Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a serious immune system disorder. This therapy involves taking your child's own blood stem cells, adding a correct copy of the DCLRE1C gene (which is faulty in ART-SCID), and then giving these corrected cells back to your child. Before the infusion, your child will receive a low dose of Busulfan, a medicine to prepare their body. The main goal is to see if children receiving AProArt-CD34 are still alive 24 months after treatment, compared to untreated children with ART-SCID. To join, children must be at least 2 months old and have a new diagnosis of ART-SCID with specific immune cell counts. The study aims to enroll 24 participants, but its current status is unclear.

Study design
This is an interventional study, meaning participants will receive a specific treatment. It plans to enroll 24 participants.
What's involved
Participants will undergo an infusion of their own gene-corrected stem cells after receiving Busulfan. Their stem cells will also be processed using the CliniMACS® CD34 Reagent System.
Compensation
Not stated in the trial record.
Follow-up
The study will follow participants for 24 months after treatment to measure overall survival.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03538899

Autologous Gene Therapy for Artemis-Deficient SCID

Recruiting
PHASE1Ages 2+InterventionalTreatment
University of California, San Francisco
~24 participants
Updated 2026-02-13 on ClinicalTrials.gov
What's tested:AProArt-CD34CliniMACS® CD34 Reagent System cell sorter deviceBusulfan

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To demonstrate that ART-SCID patients receiving AProArt-CD34 infusion have superior overall survival (OS) at 24 months post treatment with AProArt-CD34 versus the established outcome of 0% OS for patients who receive no treatment for ART-SCID
Measured over 24 months

Conditions

Severe Combined Immunodeficiency

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NCT03538899

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of California, San Francisco (UCSF) Children's Hospital

    San Francisco, Californiano site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Morton Cowan, MD · PRINCIPAL_INVESTIGATOR · University of California, San Francisco

Who to contact

Morton Cowan, MD
[email protected]
415-476-2188
Email the study team

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Eligibility criteria

Inclusion

≥2.0 months of age at initiation of busulfan conditioning
New diagnosis of typical or minimally leaky ART-SCID, as defined by the criteria below:
Artemis deficiency with bi-allelic pathogenic or likely pathogenic mutations in DCLRE1C; AND
CD3 count \< 50 autologous cells/µL (typical ART-SCID) OR spontaneous maternal chimerism, OR 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).

Exclusion

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 busulfan conditioning unless the elevated LFTs are considered to be due to medication, a viral infection for which there is no treatment other than reconstituting T cell immunity, or maternal GVHD.
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, progressive infection that is refractory to medical therapy.
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.

What this trial measures

  • To demonstrate that ART-SCID patients receiving AProArt-CD34 infusion have superior overall survival (OS) at 24 months post treatment with AProArt-CD34 versus the established outcome of 0% OS for patients who receive no treatment for ART-SCID24 months

    Patient survival status and (if applicable) cause of death will be recorded to assess overall survival.