NCT05152823
Gene Therapy for IGHMBP2-Related Diseases
Enrolling by Invitation
PHASE1Ages 2–14InterventionalTreatmentMegan WaldropInvestigator-initiated
~10 participants
Updated 2025-09-30 on ClinicalTrials.gov
What's tested:Gene Therapy
At a glance
Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Monitoring for the development of unacceptable toxicity.
Measured over 3 years
Conditions
Where it's being run
1 sites across 1 statesOhio1
Study leadership
- Megan Waldrop, MD · PRINCIPAL_INVESTIGATOR · Nationwide Children's Hospital
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
Do you actually qualify for this trial?
Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.
Eligibility criteria
Inclusion
Confirmation of two pathogenic variants in the IGHMBP2 gene from a CLIA-certified lab
Pre-ambulant (not yet walking and less than 18 months) or ambulant (as defined by the ability to walk 10 meters without assistance) or non-ambulant (inability to walk more than 10 meters unassisted)
Ability to cooperate with functional assessments as per PI's discretion
Exclusion
Prior participation in a gene or cell therapy program for any kind.
Immunizations of any kind in the month prior to the study.
Active infection based on clinical observations
Serological evidence of HIV infection, or Hepatitis B or C infection
Diagnosis of (or ongoing treatment for) an autoimmune disease
Persistent leukopenia or leukocytosis (WBC ≤ 3.5 10\^3/μL or ≥ 20.0 10\^3/μL) or an absolute neutrophil count \< 1.5 10\^3/μL
Abnormal liver function as indicated by an elevated GGT (\>2X normal if no other laboratory abnormalities), bilirubin and/or abnormal PT/INR
Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
AAV9 binding antibody titers \> 1:50 as determined by ELISA immunoassay performed by Athena Diagnostics
Abnormal laboratory values in the clinically significant range, based upon normal values in the Nationwide Children's Hospital Laboratory
Diagnosis of any other systemic illness that increases the risk of gene transfer per the PI's opinion; Has a medical condition or extenuating circumstance that, in the opinion of the PI, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's well-being, safety, or clinical interpretability
Any requirement for immune modulatory therapy and for which it would be unsafe for the subject to undergo an appropriate wash out period
Contraindication for intrathecal injection
A positive JCV antibody test of \>0.40
What this trial measures
- Monitoring for the development of unacceptable toxicity.3 years
Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities, as defined by CTCAE 5.0.