Danon Disease Natural History Study

An Observational Study of Genetic Cardiomyopathy, Danon Disease

The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).

Study Overview

• Status: Recruiting
• Conditions: Danon Disease
• Intervention / Treatment: Other: No intervention

Detailed Description

This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Clinical Information; Phone Number: 646-627-0033; Email: clinicaltrials@rocketpharma.com

Study Locations

• Germany
  • München, Germany
    • Recruiting
    • German Heart Center Munich
    • Contact: Cordula Wolf, MD; Phone Number: +498912182877; Email: wolf@dhm.mhn.de
    • Principal Investigator: Cordula Wolf, MD
• Israel
  • Ramat Gan, Israel, 5265601
    • Recruiting
    • Sheba Medical Center
    • Contact: Yair Anikster, PhD; Phone Number: +97235305018; Email: yair.anikster@sheba.health.gov.il
    • Principal Investigator: Yair Anikster, MD
• Italy
  • Florence, Italy, 50139
    • Recruiting
    • Azienda Ospedaliera Universitaria Meyer IRCCS
    • Principal Investigator: Iacopo Olivotto, MD
    • Contact: Iacopo Olivotto, PhD; Phone Number: +39557945138; Email: Iacopo.olivotto@unifi.it
• Spain
  • Madrid
    • Majadahonda, Madrid, Spain
      • Recruiting
      • Hospital Universitario Puerta de Hierro Majadahonda
      • Contact: Pavia Garcia; Email: pablogpavia@yahoo.es
      • Principal Investigator: Pavia Garcia, MD
• United Kingdom
  • London, United Kingdom, WC1N 1DZ
    • Recruiting
    • University College London - Great Ormond Street Institute of Child Health
    • Contact: Juan Kaski, MD; Phone Number: +4402074059200; Email: j.kaski@ucl.ac.uk
    • Principal Investigator: Juan Kaski, MD
    • Sub-Investigator: Zhia Lim, MD
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85016
      • Recruiting
      • Phoenix Children's Hospital
      • Contact: Andrew Papez, MD; Phone Number: (602) 546-0512; Email: apapez@phoenixchildrens.com
      • Contact: Sanjana Khanna; Phone Number: 6029334482; Email: skhanna1@phoenixchildrens.com
      • Principal Investigator: Andrew Papez, MD
  • California
    • La Jolla, California, United States, 92037
      • Recruiting
      • University of California, San Diego
      • Contact: Kim Hong, MD; Phone Number: (858) 246-2996; Email: knhong@health.ucsd.edu
      • Principal Investigator: Kimberly Hong, MD
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • Children's Hospital Colorado
      • Principal Investigator: Matthew Taylor, MD
      • Contact: Matthew Taylor, MD, PhD; Phone Number: (720) 848-1030; Email: matthew.taylor@uchsc.edu
  • Florida
    • Gainesville, Florida, United States, 32610
      • Recruiting
      • University of Florida College of Medicine
      • Contact: Mohammed M Ahmed, MD; Phone Number: (352) 273-7770; Email: Mustafa.Ahmed@medicine.ufl.edu
      • Principal Investigator: Mohammed M Ahmed, MD
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Recruiting
      • University of Michigan
      • Contact: Supriya Shore; Email: shores@med.umich.edu
      • Principal Investigator: Supriya Shore, MD
      • Sub-Investigator: Josh Meisner, MD
  • Missouri
    • St Louis, Missouri, United States, 63110
      • Recruiting
      • Washington University
      • Contact: Charles Canter, MD; Phone Number: 314-286-2404; Email: canter@wustl.edu
      • Contact: Teresa Roberson; Phone Number: 314-302-7209; Email: t.roberson@wustl.edu
      • Principal Investigator: Charles Canter, MD
  • New York
    • New York, New York, United States, 10032
      • Recruiting
      • Columbia University Medical Center/New York Presbyterian
      • Principal Investigator: Farhana Latif, MD
      • Contact: Farhana Latif; Phone Number: (212) 305-3172; Email: fl2203@cumc.columbia.edu
      • Contact: Jessica Idumonyi; Email: joi2102@cumc.columbia.edu
  • Texas
    • Houston, Texas, United States, 77030
      • Recruiting
      • Texas Children's Hospital
      • Contact: David Garuba; Phone Number: 8328265622; Email: odgaruba@texaschildrens.org
      • Principal Investigator: Kyle Hope, MD
      • Contact: Kyle Hope, MD; Phone Number: (832) 822-4280; Email: kyle.hope@bcm.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Male patients 8 years of age and over, Female patients 8 to 50 years of age (at the point of enrollment) with confirmed Danon disease recruited from a range of applicable care settings.

Description

Prospective Cohort:

1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
2. Patient or parent/legal guardian are capable and willing to provide signed informed consent

3. Age ≥ 8 years at enrollment

   Female Prospective Cohort:

4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.

   Retrospective (only) Cohort:

5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
6. Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
7. Age ≥ 8 years at enrollment
8. Prior cardiac transplantation or prior mechanical circulatory support

9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support

   Female Retrospective (only) Cohort:

10. Prior evidence of left ventricular hypertrophy.

Key Exclusion Criteria:

All Cohorts:

1. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study

2. Previous treatment with a gene therapy

   Prospective Cohort:

3. Prior mechanical circulatory support at time of enrollment to this study

4. Prior cardiac transplantation at time of enrollment to this study

   Female patients:

5. Age >51 years at enrollment

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Retrospective Cohort	Other: No intervention; No intervention
Prospective Cohort	Other: No intervention; No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Left Ventricular Mass Index (LVMI) by echocardiogram	Evaluation of change over duration of follow up	Month 12, 24, 36

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Cardiac biomarkers (hsTnI)	Evaluation of change over duration of follow up	Month 12, 24, 36 (when available)
Cardiac biomarkers (NT-proBNP, BNP)	Evaluation of change over duration of follow up	Month 12, 24, 36 (when available)
NYHA class	Evaluation of change over duration of follow up	Month 12, 24, 36
KCCQ-12	Evaluation of change over duration of follow up	Month 12, 24, 36
PedsQL	Evaluation of change over duration of follow up	Month 12, 24, 36
Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization	Evaluation over duration of follow up	Month 12, 24, 36
Six Minute Walk Test	This test measures the distance that a subject can quickly walk on a flat, hard surface in a period of 6 minutes.	Month 12, 24, 36
CBC	CBC with differential	At enrollment
Serum Chemistry	Electrolytes	At enrollment
ECG	Twelve-lead ECGs are relevant to describe changes in cardiac rhythm that may further contextualize the clinical events/endpointsevents/endpoints	Month 12, 24, 36
Serum chemistry	Creatinine	At enrollment
Serum chemistry	LDH	At enrollment
Serum chemistry	BUN	At enrollment
Serum chemistry	eGFR	At enrollment
Serum chemistry	LFT	At enrollment
Anti-AAV9 titer	Change in antibody assay findings over time	Month 12, 24, 36

Collaborators and Investigators

• Sponsor: Rocket Pharmaceuticals Inc.

Study record dates

Study Major Dates

• Study Start (Actual): December 20, 2023
• Primary Completion (Estimated): December 1, 2029
• Study Completion (Estimated): March 1, 2030

Study Registration Dates

• First Submitted: November 17, 2023
• First Submitted That Met QC Criteria: January 10, 2024
• First Posted (Actual): January 19, 2024

Study Record Updates

• Last Update Posted (Actual): May 5, 2026
• Last Update Submitted That Met QC Criteria: April 29, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Cardiomyopathy; X-linked; Danon Disease; LAMP2; Lysosome-associated membrane protein 2
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Cardiovascular Diseases; Heart Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurobehavioral Manifestations; Intellectual Disability; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Glycogen Storage Disease; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Cardiomyopathies; Glycogen Storage Disease Type IIb
• Other Study ID Numbers: RP-NI-A501-0223; LAMPLIGHT-NH (Other Identifier: Rocket Pharmaceuticals)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No