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Gene Therapy for IGHMBP2-Related Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT05152823
Recruitment Status : Enrolling by invitation
First Posted : December 10, 2021
Last Update Posted : February 9, 2023
Alcyone Therapeutics
Information provided by (Responsible Party):
Megan Waldrop, Nationwide Children's Hospital

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

Condition or disease Intervention/treatment Phase
SMARD1 CMT2S Biological: Gene Therapy Phase 1 Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Phase I/IIa Intrathecal Gene Delivery Clinical Trial for IGHMBP2-Related Diseases
Actual Study Start Date : November 4, 2021
Estimated Primary Completion Date : November 2026
Estimated Study Completion Date : November 2028

Arm Intervention/treatment
Experimental: Single Intrathecal Delivery Biological: Gene Therapy
AAV9 carrying the IGHMBP2 gene.

Primary Outcome Measures :
  1. Monitoring for the development of unacceptable toxicity. [ Time Frame: 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.

Secondary Outcome Measures :
  1. For pre-ambulant participants, ages less than 18 months, change in the Neuromuscular Gross Motor Outcome (GRO) from baseline [ Time Frame: Days 90 and 180, Months 12, 18, 24 and 36 ]
  2. For ambulant participants, change in the 100-meter timed test from baseline [ Time Frame: Days 90 and 180, Months 12, 18, 24 and 36 ]
  3. For non-ambulant participants, ages 18 months to 6 years, change in the Neuromuscular Gross Motor Outcome (GRO) from baseline [ Time Frame: Days 90 and 180, Months 12, 18, 24 and 36 ]
  4. For non-ambulant participants, ages greater than 6 years, change in the revised upper limb module for SMA (RULM) from baseline [ Time Frame: Days 90 and 180, Months 12, 18, 24 and 36 ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Months to 14 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05152823

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United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Megan Waldrop
Alcyone Therapeutics
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Principal Investigator: Megan Waldrop, MD Nationwide Children's Hospital

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Responsible Party: Megan Waldrop, Professor of Neurology, Nationwide Children's Hospital Identifier: NCT05152823    
Other Study ID Numbers: STUDY00002143
First Posted: December 10, 2021    Key Record Dates
Last Update Posted: February 9, 2023
Last Verified: February 2023

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Megan Waldrop, Nationwide Children's Hospital: