Gene Therapy for Spinal Muscular Atrophy

Overseen by Megan Waldrop, MD

Age: < 18

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1 & 2

Waitlist Available

Sponsor: Megan Waldrop

No Placebo Group

Trial Summary

What is the purpose of this trial?

This trial uses a harmless virus to deliver a healthy gene directly into the spinal fluid of patients with diseases caused by IGHMBP2 gene defects. The virus helps correct the genetic issues by bringing the healthy gene to the affected cells. This approach has been shown to improve conditions in similar diseases in animals.

Research Team

Megan Waldrop, MD

Principal Investigator

Nationwide Children's Hospital

Eligibility Criteria

This trial is for individuals with genetic confirmation of IGHMBP2-related diseases, such as Spinal Muscular Atrophy or Charcot-Marie-Tooth Disease. Participants can be pre-ambulant, ambulant, or non-ambulant and must be able to perform functional assessments. They cannot have had recent immunizations, infections like HIV/Hepatitis B/C, abnormal blood counts or liver function tests, high AAV9 antibody levels, other systemic illnesses that increase gene transfer risks or require chronic drug treatment.

Inclusion Criteria

I have two confirmed genetic mutations in the IGHMBP2 gene.

I can follow through with tests as my doctor sees fit.

I can walk more than, less than, or exactly 10 meters without help.

Exclusion Criteria

I cannot safely stop my immune therapy for a washout period.

Serological evidence of HIV infection, or Hepatitis B or C infection

My liver isn't working properly, shown by high GGT or bilirubin levels, or abnormal PT/INR.

Treatment Details

Interventions

• Gene Therapy (Virus Therapy)

Trial Overview The study involves a one-time intrathecal injection (into the spinal canal) of an AAV9 vector carrying the IGHMBP2 gene. It's an open-label trial meaning everyone knows what treatment is being given. The goal is to see if this gene therapy can help with conditions related to IGHMBP2 mutations.

Participant Groups

Group I: Single Intrathecal Delivery Experimental Treatment 1 Intervention

Who Is Running the Clinical Trial?

Megan Waldrop

Lead Sponsor

Trials

2

Recruited

10+

Alcyone Therapeutics

Collaborator

Trials

1

Recruited

10+