Gene Therapy for IGHMBP2-Related Diseases

Megan Waldrop

Status and phase

Invitation-only

Phase 2

Phase 1

Conditions

CMT2S

SMARD1

Treatments

Biological: Gene Therapy

Study type

Interventional

Funder types

Other

Identifiers

NCT05152823

STUDY00002143

Details and patient eligibility

About

Open-label, single intrathecal injection study of a AAV9 vector carrying the IGHMBP2 gene for IGHMBP2-related diseases.

Enrollment

10 estimated patients

Sex

All

Ages

2 months to 14 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

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 criteria

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