RECRUITING

A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome

Conditions

Angelman Syndrome gene therapy AAV cisterna magna

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.

Official Title

A Multi-Center, Open-label, Phase 1/2 Trial of the Safety and Efficacy of MVX-220 Gene Therapy Administered by Intra-Cisterna Magna Injection to Participants With Angelman Syndrome

Quick Facts

Study Start:2025-10

Study Completion:2031-05-31

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT07181837

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:4 Years to 50 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion Criteria
1. The participant's parent/legal guardian must provide written informed consent. 2. Symptoms consistent with AS and documented genetic confirmation of one of the following genotypes resulting in a diagnosis of AS: 1. Full maternal UBE3A gene deletion causing AS in the region of 15q11.2-q13 2. Uniparental disomy 3. Imprinting center defect 3. The participant must be 18 to 50 years of age, inclusive (for adult participants), or 4 to 8 years of age, inclusive (for pediatric participants), at Screening. 4. The participant must have the ability to ambulate independently. 5. The participant must be on stable antiepileptic medications (with no changes within 1 month prior to the Screening visit, except for weight associated dose adjustments).	1. Clinically significant medical finding other than AS, that, in the judgment of the Investigator would make the participant unsuitable for participation. 2. Laboratory abnormalities including but not limited to: 1. Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \> upper limit of normal (ULN) 2. Total and/or fractionated bilirubin (direct and/or indirect) \> ULN 3. Gamma-glutamyl transferase (GGT) \> ULN 4. Estimated glomerular filtration rate (eGFR) below the lower limit of normal (LLN) for age 5. Hemoglobin \< 8 g/dL 6. White blood cell (WBC) count outside the normal range for age 7. Platelet count \< LLN 8. Partial thromboplastin time (PTT) outside the reference range 9. PT/International normalized ratio (INR) outside the reference range 3. Any known history and/or family history of hemophagocytic lymphohistiocytosis (HLH)/macrophage activation syndrome (MAS) or multisystem inflammatory syndrome (MIS). 4. Any known history and/or family history of disordered complement function and/or complement gene mutation(s). 5. History of systemic lupus erythematous, Still's disease, rheumatoid arthritis, and/or other severe autoimmune conditions per judgment of the Investigator. 6. Any known history of thrombotic microangiopathy (TMA)/microangiopathic hemolytic anemia, or hypercoagulable conditions including, but not limited to, disseminated intravascular coagulation (DIC), deep venous thrombosis, and pulmonary embolism. 7. Current therapy with high dose immunosuppressants. 8. Prior or current treatment with an investigational drug within 6 months or 5-half-lives of the hospital admission whichever is longer. 9. Prior treatment with an antisense oligonucleotide within 1 year of hospital admission. 10. A history of gene therapy administration. 11. Any contraindication to ICM administration procedure, including contraindications to imaging, contrast use, anesthesia, or any condition that would increase the risk of adverse outcomes from the ICM procedure. 12. Any contraindication to glucocorticoid use

Inclusion Criteria

Exclusion Criteria

1. The participant's parent/legal guardian must provide written informed consent.
2. Symptoms consistent with AS and documented genetic confirmation of one of the following genotypes resulting in a diagnosis of AS:
1. Full maternal UBE3A gene deletion causing AS in the region of 15q11.2-q13
2. Uniparental disomy
3. Imprinting center defect
3. The participant must be 18 to 50 years of age, inclusive (for adult participants), or 4 to 8 years of age, inclusive (for pediatric participants), at Screening.
4. The participant must have the ability to ambulate independently.
5. The participant must be on stable antiepileptic medications (with no changes within 1 month prior to the Screening visit, except for weight associated dose adjustments).

1. Clinically significant medical finding other than AS, that, in the judgment of the Investigator would make the participant unsuitable for participation.
2. Laboratory abnormalities including but not limited to:
1. Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \> upper limit of normal (ULN)
2. Total and/or fractionated bilirubin (direct and/or indirect) \> ULN
3. Gamma-glutamyl transferase (GGT) \> ULN
4. Estimated glomerular filtration rate (eGFR) below the lower limit of normal (LLN) for age
5. Hemoglobin \< 8 g/dL
6. White blood cell (WBC) count outside the normal range for age
7. Platelet count \< LLN
8. Partial thromboplastin time (PTT) outside the reference range
9. PT/International normalized ratio (INR) outside the reference range
3. Any known history and/or family history of hemophagocytic lymphohistiocytosis (HLH)/macrophage activation syndrome (MAS) or multisystem inflammatory syndrome (MIS).
4. Any known history and/or family history of disordered complement function and/or complement gene mutation(s).
5. History of systemic lupus erythematous, Still's disease, rheumatoid arthritis, and/or other severe autoimmune conditions per judgment of the Investigator.
6. Any known history of thrombotic microangiopathy (TMA)/microangiopathic hemolytic anemia, or hypercoagulable conditions including, but not limited to, disseminated intravascular coagulation (DIC), deep venous thrombosis, and pulmonary embolism.
7. Current therapy with high dose immunosuppressants.
8. Prior or current treatment with an investigational drug within 6 months or 5-half-lives of the hospital admission whichever is longer.
9. Prior treatment with an antisense oligonucleotide within 1 year of hospital admission.
10. A history of gene therapy administration.
11. Any contraindication to ICM administration procedure, including contraindications to imaging, contrast use, anesthesia, or any condition that would increase the risk of adverse outcomes from the ICM procedure.
12. Any contraindication to glucocorticoid use

Contacts and Locations

Study Contact

MavriX Bio, LLC

CONTACT

978-538-8554

info@mvxbio.com

Study Locations (Sites)

Rush University Medical Center

Chicago, Illinois, 60612

United States

Collaborators and Investigators

Sponsor: MavriX Bio, LLC

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-10

Study Completion Date2031-05-31

Study Record Updates

Study Start Date2025-10

Study Completion Date2031-05-31

Terms related to this study

Keywords Provided by Researchers

Angelman syndrome
gene therapy
AAV
cisterna magna

Additional Relevant MeSH Terms

Angelman Syndrome