Natural History of Danon Disease

NCT05548855 | Completed

• 1 other identifier: RP-NI-A501-0122
• Study Type: observational
• Target: 59
• Locations: 5 countries
• Sites: 15

Brief Summary

This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD). This study is composed of 2 parts:

• Feasibility study: to identify participating sites, assess site and team capabilities, confirm the site and investigator qualification for taking part in the study,
• Retrospective chart review: Data will be collected retrospectively by means of a chart review of living and/or deceased DD patients with a confirmed lysosome associated membrane protein-2 gene (LAMP2) mutation, and,
• For living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data,
• For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death.

Conditions

Danon Disease

Keywords

Danon Disease; Observational

Outcome Measures

Primary Outcomes (4)

• Cardiac Manifestations- LVPWd

  Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments: thickness of the left ventricular posterior wall end diastole and end systole (LVPWd).

  Retrospective minimum of 6 months

• Cardiac Manifestations- lVSd

  Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including thickness of the left ventricular systolic dysfunction (IVSd).

  Retrospective minimum of 6 months

• Cardiac Manifestations- LVmass

  Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular mass (LVmass).

  Retrospective minimum of 6 months

• Cardiac Manifestations - LVEF

  Descriptive analysis will be conducted to characterize specific cardiac manifestations in patients diagnosed with Danon disease, and changes over time. Data collected will be analyzed by 6-month intervals and by the changes from initial evaluation over each 6-month interval. This includes the following cardiac parameters obtained from echocardiogram and/or MRI assessments including left ventricular ejection fraction (LVEF).

  Retrospective minimum of 6 months

Secondary Outcomes (16)

• Serologic Markers & Imaging - BNP

  Retrospective minimum of 6 months

• Serologic Markers & Imaging Pro-BNP

  Retrospective minimum of 6 months

• Serologic Markers & Imaging- CK-MB

  Retrospective minimum of 6 months

• Serologic Markers & Imaging- Troponin

  Retrospective minimum of 6 months

• Serologic Markers & Imaging- CPK

  Retrospective minimum of 6 months

Study Arms (2)

Heart Transplant or Cardiac Assist Device

Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 For living patients who underwent heart transplantation or placement of a cardiac assist device, and for deceased patients, at least 1 MRI or echo assessment prior to heart transplantation/cardiac assist device placement or death.

Procedure: Heart Transplant; Device: Cardiac Assistive Device

No Intervention

Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2 for living patients (who have not undergone heart transplantation or placement of a cardiac assist device), availability of at least 6-month cardiology follow-up data

Interventions

Heart Transplant PROCEDURE

Patients who have undergone a heart transplant as standard of care (SOC) procedure

Heart Transplant or Cardiac Assist Device

Cardiac Assistive Device DEVICE

Patients who have undergone a placement of a cardiac assistive device

Heart Transplant or Cardiac Assist Device

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Female and male patients with confirmed diagnosis of Danon disease based on a genetic test positive for a mutation in LAMP2

You may qualify if:

• Patients older than 6 years old and any sex.
• Patients with a confirmed genetic mutation in LAMP2. 3a. Living patients (who have not undergone heart transplantation or placement of a cardiac assist device):
• A minimum of 6 months of longitudinal data, including at least 2 echocardiograms or MRIs at least 6 months apart, prior to most recent follow-up visit or enrollment in Sponsor's gene therapy clinical trial.
• b. Deceased patients or living patients who underwent heart transplantation or cardiac assist device placement:
• At least 1 echocardiogram or MRI assessment prior to heart transplantation/ cardiac assist device placement or death
• \. Informed consent/assent by the patient and/or their legally authorized representative (if the patient is living at the time of enrollment).

You may not qualify if:

• \. Diagnosis of Danon disease without genetic testing confirmation.

Sponsors & Collaborators

• Rocket Pharmaceuticals Inc.: lead

Study Sites (15)

Institut klinické a experimentální medicíny (IKEM)- Institute for Clinical and Experimental Medicine

Prague, 14021, Czechia

Location

CHU de Nantes, Hôpital Laennec

Nantes, 44800, France

Location

APHP, Hôpital de la Pitié Salppêtrière - Charles Foix

Paris, 75013, France

Location

CHU de Rennes, Hôpital Pontchaïllou

Rennes, 35033, France

Location

Mater Misericordiae University Hospital

Dublin, D07 R2WY, Ireland

Location

Ospedale Papa Giovanni XXIII di Bergamo ASST Pap Giovanni XXIII Hospital

Bergamo, 24127, Italy

Location

University of Florence Dept. of Experimental and Clinical Medicine

Florence, 50134, Italy

Location

IRCCS Burlo Garogolo- Hospital Burlo Garofolo

Trieste, 34137, Italy

Location

Hospital Clínic de Barcelona - Barnaclínic+

Barcelona, 08907, Spain

Location

Hospital Universitario de Bellvitge- Bellvitge University Hospital

Barcelona, 08907, Spain

Location

Hospital Universitario La Paz - La Paz University Hospital

Madrid, 28046, Spain

Location

Hospital Universitario Puerta de Hierro Majadahonda Puerta de Hierro Majadahonda - University Hospital

Madrid, 28222, Spain

Location

Hospital Universitario Virgen de la Victoria- Virgen de la Victoria University Hosptial

Málaga, 29010, Spain

Location

Hospital Álvaro Cunqueiro

Pontevedra, 326312, Spain

Location

Hospital Universitario y Politécnico La Fe, Instituto De Investigación Sanitaria La Fe, La Fe University and Polytechnic Hospital

Valencia, 46026, Spain

Location

Related Links

• Glycogen Storage Disease type IX
• Danon Disease
• Danon Disease

MeSH Terms

Conditions

Glycogen Storage Disease Type IIb

Interventions

Heart Transplantation

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Cardiomyopathies; 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

Intervention Hierarchy (Ancestors)

Cardiac Surgical Procedures; Cardiovascular Surgical Procedures; Surgical Procedures, Operative; Thoracic Surgical Procedures; Organ Transplantation; Transplantation

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 29, 2022
• First Posted: September 22, 2022
• Study Start: September 26, 2022
• Primary Completion: October 31, 2023
• Study Completion: October 31, 2023
• Last Updated: November 21, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3); CZ (1); IE (1); ES (7); IT (3)