A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

NCT06092034 | Recruiting Phase 2 DMC FDA Drug

• 2 other identifiers: RP-A501-0123LAMPLIGHT-2
• Study Type: interventional
• Target: 14
• Locations: 4 countries
• Sites: 6

Brief Summary

This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene, in male patients with Danon Disease.

Conditions

Danon Disease

Keywords

Hypertrophic Cardiomyopathy; HCM; X-linked disease; LAMP2; Pediatric; Skeletal Myopathies; Cardiomyopathy; Lysosomal Storage Disorder; Left Ventricular Hypertrophy

Outcome Measures

Primary Outcomes (1)

• Evaluation of efficacy via primary endpoint comprised of LAMP2 myocardial tissue expression and left ventricular mass index

  Increase of myocardial tissue expression of LAMP2 protein and decrease in left ventricular mass index (LVMI).

  12 Months post-infusion

Secondary Outcomes (6)

• Evaluation of efficacy via components of the primary endpoint - LAMP2

  12 months post infusion

• Evaluation of efficacy via components of the primary endpoint - Left Ventricular Mass Index (LVMI)

  12 months post infusion

• Evaluation of efficacy via biomarker evidence of myocardial injury - High Sensitivity Troponin I (hsTnI)

  12 months post infusion

• Evaluation of efficacy via biomarker evidence of myocardial injury - N-Terminal Prohormone of Brain Natriuretic Peptide (NT-proBNP)

  12 months post infusion

• Evaluation of efficacy via assessment of event-free survival

  60 months post infusion

Study Arms (1)

RP-A501

EXPERIMENTAL

One planned dose of RP-A501 in cohorts of subjects with a confirmed diagnosis of Danon Disease.

Genetic: RP-A501

Interventions

RP-A501 GENETIC

RP-A501 is a gene therapy product consisting of a rAAV9 capsid containing the human LAMP2B transgene which will be administered as a single IV infusion.

RP-A501

Eligibility Criteria

• Age: 8 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene.
• Male.
• Age ≥8 years.
• Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following:
• Abnormal thickening of Left ventricular wall,
• Left ventricular ejection fraction (LVEF) ≥ 50%.
• New York Heart Association (NYHA) Class II to III.
• High sensitivity Troponin I (hsTnI) ≥20% above the upper limit of normal (ULN)
• Ability to comply with study procedures including investigational therapy and follow-up evaluations.

You may not qualify if:

• Anti-AAV9 neutralizing antibody titer \>1:40.
• Severe heart failure or requirement for advanced therapies.
• History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina.
• Prior cardiac or other organ (lung, liver, other) transplantation.

Sponsors & Collaborators

• Rocket Pharmaceuticals Inc.: lead

Study Sites (6)

University of California, San Diego

La Jolla, California, 92037, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

German Heart Center Munich

Munich, Germany

RECRUITING

Meyer Childrens Hospital

Florence, Italy

RECRUITING

Great Ormund Street Hospital & UCL Institute of Cardiovascular Science

London, United Kingdom

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type IIb; Cardiomyopathy, Hypertrophic; Cardiomyopathies; Lysosomal Storage Diseases; Hypertrophy, Left Ventricular

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Heart Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Cardiomegaly; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Joseph Rossano, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

• Barry Greenberg, MD

  University of California, San Diego

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Clinical Information

CONTACT

646-627-0033; clinicaltrials@rocketpharma.com

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2023
• First Posted: October 23, 2023
• Study Start: September 5, 2023
• Primary Completion (Estimated): April 1, 2028
• Study Completion (Estimated): April 1, 2032
• Last Updated: May 4, 2026

Record last verified: 2026-04

Locations

US (3); GB (1); IT (1); DE (1)