Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMIT (DMD-001 SUMMIT)

Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy [SUpplemental Patient dMd assessMents Investigating ouTcomes (SUMMIT)]

The goal of this study is to collect additional information on the safety of long-term treatment with AGAMREE® and to explore long-term clinical impact of AGAMREE® on quality of life, as assessed by standardized patient-reported outcome measures (QoL questionnaires) in male patients aged 2 years and older with Duchenne muscular dystrophy (DMD).

Study Overview

• Status: Recruiting
• Conditions: Duchenne Muscular Dystrophy
• Intervention / Treatment: Drug: Vamorolone

Detailed Description

This is a multi-center, observational, prospective, longitudinal registry study, designed to collect safety data and to explore long-term clinical impact of AGAMREE® on quality of life, as assessed by standardized patient-reported outcome measures (QoL questionnaires) in male patients aged 2 years and older with DMD.

Primary Objective is to collect additional information on the safety of long-term treatment with AGAMREE® in male patients aged 2 years and older with Duchenne muscular dystrophy (DMD) as determined by:

Growth parameters Body mass index (BMI) Musculoskeletal assessments Ophthalmological assessments Cardiovascular assessments Pubertal development assessments Adverse events (AEs)

Secondary Objective is to explore long-term clinical impact of AGAMREE® on quality of life, as assessed by standardized patient-reported outcome measures (QoL questionnaires).

This registry will be conducted in the US, at approximately 40 sites known to treat and follow patients with DMD. The registry plans to enroll approximately 250 male patients aged 2 years and older with DMD.

Patients will be followed for approximately 5 years in the registry and will return to the site for Yearly Follow-up Visits (+/- 60 days) for assessments. Information on some historical and ongoing standard of care treatment and procedures for management of DMD will also be collected.

• Study Type: Observational
• Enrollment (Estimated): 250

Contacts and Locations

• Study Contact: Name: Syune Nersisyan, PhD; Phone Number: (305) 420-3200; Email: snersisyan@catalystpharma.com

Study Locations

• Puerto Rico
  • Puerto Rico
    • San Juan, Puerto Rico, Puerto Rico, 00912
      • Recruiting
      • San Jorge Children's Hospital
      • Contact: Yaritza Berrios; Phone Number: 787-758-2525; Email: yartiza.berrios@upr.edu
      • Principal Investigator: Edwardo Ramos, MD
    • San Juan, Puerto Rico, Puerto Rico, 00927
      • Recruiting
      • FDI Clinical Research
      • Contact: Alexandra Montalvo Acevedo, MD; Phone Number: 787 722 1248; Email: alexandra.montalvo@fdipr.com
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85016
      • Recruiting
      • Phoenix Children's Hospital
      • Contact: Saunder Bernes, MD; Phone Number: 602 933 0956; Email: sbernes@phoenixchildrens.com
  • Arkansas
    • Little Rock, Arkansas, United States, 72202
      • Recruiting
      • Arkansas Childrens Hospital
      • Contact: Aravindhan Veerapandiyan, MD; Phone Number: (501) 364-1850; Email: aveerapandiyan@uams.edu
  • California
    • Los Angeles, California, United States, 90027
      • Not yet recruiting
      • Children's Hospital Los Angeles
      • Contact: Leigh Maria Ramos-Platt, MD; Phone Number: 323 660 2450; Email: lramosplatt@chla.usc.edu
    • Palo Alto, California, United States, 94305
      • Not yet recruiting
      • Stanford University
      • Contact: Jenna Klotz, MD; Phone Number: 408 426 5590
    • Sacramento, California, United States, 95817
      • Not yet recruiting
      • University of California, Davis
      • Contact: Craig McDonald, MD; Phone Number: 916 734 7041; Email: cmmcdonald@ucdavis.edu
  • Florida
    • Gainesville, Florida, United States, 32610
      • Not yet recruiting
      • University of Florida Clinical and Translational Science Institue
      • Contact: Julie Berthy, NP; Phone Number: 352 273 8700; Email: jberthy@ufl.edu
    • Miami, Florida, United States, 33155
      • Recruiting
      • Nicklaus Children's Hospital
      • Contact: Migvis Monduy, MD; Phone Number: 305 663 8330; Email: Migvis.Monduy@Nicklaushealth.org
    • Orlando, Florida, United States, 32827
      • Recruiting
      • Nemours Children's Hospital
      • Contact: Omer Abdul Hamid, MD; Phone Number: 407 650 7715; Email: Omer.Abdulhamid@nemours.org
    • St. Petersburg, Florida, United States, 33701
      • Not yet recruiting
      • Johns Hopkins All Children's Hospital
      • Contact: Susan Dvojack; Phone Number: 727-898-7451; Email: sdvojac1@jhmi.edu
      • Principal Investigator: Matias Lopez Chacon, MD
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Recruiting
      • Lurie Children's Hospital of Chicago
      • Contact: Nancy Kuntz, MD; Phone Number: 312 227 4000; Email: NKuntz@luriechildrens.org
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Not yet recruiting
      • Indiana University Health - Riley Hospital for Children
      • Contact: Marcia Felker, MD; Phone Number: 317 278 7364; Email: mamccann@iu.edu
  • Kansas
    • Kansas City, Kansas, United States, 66205
      • Recruiting
      • University of Kansas Medical Center
      • Contact: Jeffrey Statland, MD; Phone Number: 913 588 6970; Email: JStatland@kumc.edu
  • Massachusetts
    • North Worcester, Massachusetts, United States, 01655
      • Recruiting
      • University of Massachusetts Memorial Medical Center
      • Contact: Stephen M. Chrzanowski, MD, PhD; Phone Number: (774) 441-7615; Email: Stephen.Chrzanowski@umassmed.edu
  • Michigan
    • Grand Rapids, Michigan, United States, 49503
      • Recruiting
      • Helen DeVos Children's Hospital
      • Contact: Jena Krueger, MD; Phone Number: 616-447-5836; Email: Jena.Krueger@helendevoschildrens.org
  • North Carolina
    • Charlotte, North Carolina, United States, 28207
      • Recruiting
      • Atrium Health Neurosciences Institute
      • Contact: Urvi Desai, MD; Phone Number: 704 468 0101; Email: Urvi.Desai@atriumhealth.org
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University Medical Center and Childrens Health Center
      • Contact: Mai ElMallah, MD; Phone Number: (919) 681-3364; Email: mai.elmallah@duke.edu
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
      • Contact: Cuixia Tian, MD; Phone Number: 513 636 9285; Email: Cuixia.Tian@cchmc.org
  • Pennsylvania
    • Hershey, Pennsylvania, United States, 17033
      • Recruiting
      • Penn State Milton S. Hershey Medical Center- Penn State Hershey Neuroscience Institute
      • Contact: Dustin Paul, MD; Phone Number: 717-531-3828; Email: dpaul2@pennstatehealth.psu.edu
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia (CHOP)
      • Contact: Sabrina Yum, MD; Phone Number: 215 590 4719; Email: YUMS@chop.edu
  • Texas
    • Dallas, Texas, United States, 75235
      • Recruiting
      • University of Texas Southwestern Medical Center
      • Contact: Kaitlin Batley, MD; Phone Number: 214 456 9561; Email: Kaitlin.Batley@UTSouthwestern.edu
    • Denton, Texas, United States, 76208
      • Recruiting
      • Neurology Rare Disease Center - Neurology & Neuromuscular Care Center
      • Contact: Diana Castro, MD; Phone Number: 972 982 7411; Email: Research@neuromdcenter.com
    • San Antonio, Texas, United States, 78229
      • Recruiting
      • The University of Texas Health Science Center at San Antonio
      • Contact: Matthew Wicklund, MD; Phone Number: 210 450 0500; Email: wicklund@uthscsa.edu
  • Virginia
    • Charlottesville, Virginia, United States, 22903
      • Recruiting
      • University of Virginia Health System (UVAHS) - Pediatric Neuromuscular Center
      • Contact: Rebecca Scharf, MD; Phone Number: 434 924 1647; Email: RS3YK@uvahealth.org
  • Washington
    • Seattle, Washington, United States, 98105
      • Recruiting
      • Seattle Children's Hospital
      • Contact: Seth Perlman, MD; Phone Number: 206-987-0804; Email: Seth.Perlman@seattlechildrens.org
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Not yet recruiting
      • Children's Wisconsin
      • Contact: Rebecca Rehborg; Phone Number: 877-607-5280; Email: rrehborg@mcw.edu
      • Principal Investigator: Virginia Kaperick, MD

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Probability Sample

Study Population

Male patients at least 2 years old with confirmed diagnosis of DMD (via genetic testing or muscle biopsy with absent dystrophin staining to anti-dystrophin antibodies 3, 1, or 2, or dystrophin immunohistochemistry or western blot).

Description

Inclusion Criteria:

1. Patient or parent/legal guardian is willing and able to provide written informed consent once the nature of the registry has been explained and prior to the start of any registry-related procedures.
2. Patient and/or parent/guardian are willing and able to complete QoL questionnaires.
3. Male patients at least 2 years old.
4. Confirmed diagnosis of DMD (via genetic testing or muscle biopsy with absent dystrophin staining to anti- dystrophin antibodies 3, 1, or 2, or dystrophin immunohistochemistry or western blot).
5. Patient has a current, active prescription for, or is on, AGAMREE®.

Exclusion Criteria:

1. Any contraindication to AGAMREE® or medical condition, which, in the opinion of the Investigator, would affect registry participation, performance, or interpretation of registry assessments.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in Height z-score	Standing height in participants 2 years of age and older will be measured using a stadiometer mounted at a right angle between a level floor and against a straight, vertical surface. When transitioning from recumbent length to standing height measurements in participants between 2 to 3 years of age, measure both length and height. If collecting standing height measurements is not feasible, height will be estimated using arm span measurements. To estimate the height, the arm span will be measured from fingertip to fingertip with arms fully extended horizontally. The same standardized technique will be used at all study visits.	At Enrollment Visit (baseline), and at each Yearly Follow-up Visit (for up to 5 years).
Change in BMI z-score	Weight will be measured according to the site's standard of care procedures. For ambulatory patients, this typically involves a standing scale; for non-ambulatory patients, a wheelchair or bed scale may be used. Sites should document the method used at each visit.	At Enrollment Visit (baseline), and each Yearly Follow-up Visit (for up to 5 years)
Change in North Star Ambulatory Assessment from baseline	The North Star Ambulatory Assessment is a clinical assessment scale specifically designed to measure functional ability in ambulant male patients with DMD. The North Star Ambulatory Assessment consists of 17 scored items and 2 timed tests, including the Time to Run/Walk Test and the Time to Stand Test. The Time to Run/Walk Test measures the time (in seconds) that it takes the patient to run or walk 10 meters. The Time to Stand Test measures the time (in seconds) required for the patient to stand in an erect position from supine (floor). Patients should be barefoot and comfortably clothed. North Star Ambulatory Assessment score range is 0 to 34, with higher scores indicating better ambulatory function.	At Enrollment visit, and each Yearly Follow-up Visit (for up to 5 years).
Change in Performance of Upper Limb from baseline	The Performance of Upper Limb assessment is an observer-rated measure of upper-limb function in individuals with Duchenne muscular dystrophy. It includes an entry item to determine the participant's starting functional level and a series of tasks evaluating shoulder, mid-level (elbow), and distal (wrist/hand) abilities. Total scores reflect the participant's ability to perform defined functional movements, with higher scores indicating better function.	At Enrollment Visit, at each Yearly Follow-up Visit (for up to 5 years).
Tanner stage documentation	Pubertal development will be assessed by a physician using Tanner Stages assessment. This assessment uses Male External Genitalia Scale. Stage 1: Testicular volume < 4 ml or long axis < 2.5 cm Stage 2: 4 ml-8 ml (or 2.5 to 3.3 cm long), 1st pubertal sign in males Stage 3: 9 ml-12 ml (or 3.4 to 4.0 cm long) Stage 4: 15-20 ml (or 4.1 to 4.5 cm long) Stage 5: > 20 ml (or > 4.5 cm long) Pubic Hair Scale Stage 1: No hair Stage 2: Downy hair Stage 3: Scant terminal hair Stage 4: Terminal hair that fills the entire triangle overlying the pubic region Stage 5: Terminal hair that extends beyond the inguinal crease onto the thigh Pubertal development assessments will be discontinued when the patient has completed puberty.	At Enrollment Visit (baseline), at each Yearly Follow-up Visit (for up to 5 years).
Percentage of patients with cataract and/or glaucoma	Presence of cataract and glaucoma will be assessed by an optometrist or ophthalmologist.	At Enrollment (baseline), and during each Yearly Follow-up Visit (for up to 5 years).
Findings from lateral spine x-ray	Lateral spine x-ray will be performed to evaluate vertebral fractures and for spine deformities.	At Enrollment Visit (baseline), and during each Yearly Follow-up Visit (for up to 5 years).
Findings from anterior-posterior/posterior-anterior X-ray	Anterior-posterior/Posterior-anterior spine x-ray will be performed to evaluate spine deformities.	At Enrollment Visit (baseline), and at each Yearly Follow-Up Visit (for up to 5 years).
Findings from hand-wrist X-ray	Posteroanterior hand x-ray will be performed for the bone age assessment.	At Enrollment Visit (baseline), and each Yearly Follow-Up Visit (for up to 5 years).
Summary statistics of bone mineral density measures assessed by dual x-ray absorptiometry	Bone mineral content, bone mineral density, bone area, and bone mineral density Z-score will be assesses using dual x-ray absorptiometry (DXA). Summary statistics will be tabulated by anatomical location at each visit.	At Enrollment Visit (baseline) and each Yearly Follow-Up Visit (for up to 5 years).
Body Composition Mass Measures	Fat mass, lean mass, and fat-free mass will be assessed using DXA. Summary statistics will be tabulated by visit.	At Enrollment Visit, each Yearly Follow-Up and End of Study/Early Termination (for approximately 5 years).
Summary statistics of body fat percentage and regional fat distribution ratios assessed by DXA	Body fat percentage, tissue fat percentage, android/gynoid body fat percent ratio, and android/gynoid tissue fat percent ratio will be assessed using DXA. Summary statistics will be tabulated by visit.	At Enrollment visit, each Yearly Follow-up visit, and End of study/Early termination (for approximately 5 years).
Findings from standard of care echocardiography	If available as per standard of care, findings from echocardiography will be collected. This is not required if not available as part of the standard of care.	At Enrollment Visit, and at each Yearly Follow-up Visit (for up to 5 years).
Frequency and percentage of participants experiencing any adverse events and serious adverse events	Adverse events (AEs) and serious adverse events (SAEs) will be collected after signing the informed consent through the end of study participation. The frequency and percentage of patients experiencing any AE or SAE will be summarized. Adverse events will be assessed and documented by the investigator based on routine clinical evaluations, including vital signs, physical examinations, laboratory assessments, and medical record review. For each adverse event, the Investigator will document relevant clinical details, including timing, severity, outcome, and assessments of the seriousness and causality. Adverse events will be assessed by the current version of the CTCAE at the time the adverse event is identified, and will be summarized by MedDRA system organ class and preferred term using the current version of MedDRA.	From informed consent, Enrollment visit, each Yearly follow-up visit, and End of Study/Early Termination (for up to 5 years).
Findings from cardiac magnetic resonance imaging (subset of patients taking part in the cardiac sub-study only)	Myocardial damage will be assessed through magnetic resonance imaging using late gadolinium enhancement. Late gadolinium enhancement is a technique used in cardiac MRI for cardiac tissue characterization, in particular, the assessment of myocardial scar formation and regional myocardial fibrosis	Enrollment Visit, and at each Yearly Follow-Up Visit (for up to 5 years).
Presence of cardiomyopathy assessed by echocardiography using transmural strain profile (only in a subset of patients taking part in the cardiac sub-study)	Presence of cardiomyopathy will be assessed by echocardiography using transmural strain profile (only in a subset of patients taking part in the cardiac sub-study).	At Enrollment Visit (baseline), and each Yearly Follow-up Visit (for up to 5 years) or Early Termination.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Changes in Duchenne Muscular Dystrophy Quality of Life questionnaire score	Duchenne Muscular Dystrophy Quality of Life questionnaire is a patient-reported outcome measure designed to assess how Duchenne muscular dystrophy affects physical, emotional, and social aspects of daily life. Duchenne Muscular Dystrophy Quality of Life questionnaire proxy report will be completed by a parent/guardian for patients aged 7 years and older. For patients aged 10 years and older, a self-report will be completed by the patient, and, if feasible, a proxy report will also be completed by the parent or guardian.	At Enrollment Visit (baseline) and at each Yearly Follow-up Visit for up to 5 years.
Change in Patient Reported Outcome Measure for the Upper Limb score	Patient Reported Outcome Measure for the Upper Limb is a questionnaire for young males/children with DMD from the age of 7 years. The PROM UL will be completed by parent/legal guardian up to the age of 16 years and by the patient from the age of 17 years. It consists of 32 items covering four domains of activities of daily living: (1) food, (7 items, max score 14); (2) self-care, (8 items, max score 16); (3) household and environment, (6 items, max score 12); (4) leisure and communication, (11 items, max score 22). For each question, the patients and/or their parent/legal guardian are asked to report their perceived difficulty in performing the activity on a 3-level scale: Cannot do (0); Can do with difficulty (1); Can do easily (2). The maximum total score is 64, with higher score indicating better function.	At Enrollment Visit (baseline), and each Yearly Follow-Up Visit (for up to 5 years).

Collaborators and Investigators

• Sponsor: Catalyst Pharmaceuticals, Inc.
• Collaborators: Children's Hospital of Eastern Ontario; Medpace, Inc.; ICON plc; Veeva Systems; ICON Medical Imaging
• Investigators: Principal Investigator: Aravindham Veerapandiyan, MD, Arkansas Childrens Hospital; Study Director: William Andrews, MD, Catalyst Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): September 25, 2024
• Primary Completion (Estimated): February 1, 2032
• Study Completion (Estimated): February 1, 2032

Study Registration Dates

• First Submitted: August 9, 2024
• First Submitted That Met QC Criteria: August 19, 2024
• First Posted (Actual): August 21, 2024

Study Record Updates

• Last Update Posted (Actual): February 27, 2026
• Last Update Submitted That Met QC Criteria: February 23, 2026
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Duchenne Muscular Dystrophy; DMD; Muscular Dystrophy; Neuromuscular; Vamorolone; AGAMREE®
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Muscular Disorders, Atrophic; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophies; Muscular Dystrophy, Duchenne; VBP15 compound
• Other Study ID Numbers: DMD-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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