A 96-week, double-blind, placebo-controlled followed by a 48 week open label extension research study to evaluate the effectiveness and safety of investigational products, SRP-4045 and SRP-4053, in patients with Duchenne muscular dystrophy.

For US Patients and Audiences Only

Exon Skipping for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare, life-shortening genetic disorder that affects boys and causes their muscles to break down and lose strength over time. DMD is caused by specific errors (mutations) in the gene that codes for dystrophin. Dystrophin is  a protein that plays a key role in the function of muscle cells and protects them from damage as muscles contract and relax. These mutations in the dystrophin gene lead to a lack of dystrophin protein in muscles. Without enough dystrophin, muscles gradually grow weaker until they can’t move at all, and eventually breathing and heart function are lost. Sarepta's investigational therapies, SRP-4045 and SRP-4053, are being evaluated in the ESSENCE study as an approach to help muscles make a shorter form of dystrophin protein and possibly slow the progression of DMD.

The Problem

Duchenne is caused by mutations to the dystrophin gene. Most commonly, one or more exons (a portion of the gene) are missing, and the remaining exons don’t fit together properly. Because of this error, cells cannot make dystrophin, a protein muscles need to work properly. Without dystrophin, muscle cells are damaged, and, over time, are replaced with scar tissue and fat.

Missing Exon

Exon Skipping

Our investigational therapies in the ESSENCE study use a technique referred to as exon skipping. Skipping a specific exon next to the mutation is intended to allow the body to make a shortened form of the dystrophin protein.

Purpose of the ESSENCE Study

The purpose of this Phase III research study is to evaluate the safety and effectiveness of SRP-4045 and SRP-4053 in boys with DMD, who have a deletion that is potentially responsive to, or amenable to exon 45 or exon 53 skipping. ESSENCE is a randomized, placebo-controlled study. Each study participant will be randomly assigned to receive either active study drug (SRP-4045 or SRP-4053, depending on his deletion type) or placebo. Placebo is made to look just like the active study drug, but it will not contain any active substance. Researchers use a placebo to see if the active study drug works and to see how safe and effective it is compared to not taking anything. This trial design is the best way to get a clear answer about the safety and effectiveness of a new drug, and is usually required by regulatory authorities in the approval process for a drug.

SRP–4045

DMD patients with deletions potentially responsive to, or amenable to exon-45 skipping

SRP–4053

DMD patients with deletions potentially responsive to, or amenable to exon-53 skipping

Placebo

DMD patients potentially amenable to either exon 45 or exon 53 skipping in this trial are randomly assigned to receive inactive placebo during the study Two out of every three patients will receive the active study drug.

Why Consider Enrolling in This Trial?

Patients who complete the placebo-controlled part of the study will be eligible to participate in the 1-year open-label extension period. After this they will also be eligible for a long term open-label extension period. Open-label means all patients will receive the active study drug and you and the study team will know that your son is receiving it.

Who is Eligible?

  • Boys with DMD who are 7 – 13 years old and can walk between 300 and 450 meters on the 6-minute walk test.

  • Have a genetic test that shows a mutation in the dystrophin gene that may be treated by skipping exon 45 or 53*. Talk to your doctor if you are unsure.

  • Have been on a stable dose of corticosteroids (such as prednisone or deflazacort) for at least 6 months.

  • Have stable lung (breathing) and heart function.

There are additional requirements for participation and those will be reviewed with patients and their families during the screening process.

Deletions potentially amenable to exon 45 skipping include but are not limited to 12–44, 18–44, 44, 46–47, 46–48, 46–49, 46–53, or 46–55. Deletions amenable to exon 53 skipping include but are not limited to 42-52, 45-52, 47-52, 48-52, 49-52, 50-52, 52, and 54-58.

FAQ

  • What is a randomized placebo-controlled trial?

    In a randomized, placebo-controlled study, each participant is picked randomly, by chance (like tossing a coin) to receive either active study drug, or placebo. Placebo is made to look just like the active study drug, but it does not contain any active substance.
  • What is the chance that my son will receive placebo vs. active study drug?

    If your son takes part in this study, he will have a 2 in 3 chance of receiving active study drug and a 1 in 3 chance of receiving placebo during the double-blind, placebo-controlled part of the study (up to 96 weeks).
  • If my son gets the placebo drug, will he receive active drug at any point in the study?

    Patients who complete the placebo-controlled part of the study will be eligible to participate in the 1-year open-label extension period. After this they will also be eligible for a long term open-label extension study. Open-label means all patients will receive active study drug and you and the study team will know that your son is receiving it.
  • How many boys will be enrolled in this study and where is it being run?

    Approximately 222 boys are planned to be enrolled in this study. The trial is being run globally, check locations for a site near you.
  • Why is Sarepta sponsoring a randomized placebo-controlled trial?

    Researchers use a placebo to see if the active study drug works and to see how safe. A placebo-controlled trial design is the best way to get a clear answer about the safety and effectiveness of a new drug and is usually required by regulatory authorities in the approval process for a drug.
  • Why is the placebo-controlled period of this study 96 weeks?

    Based on Sarepta’s clinical trials and analyses, this may be the earliest time to potentially see a treatment effect on the six-minute walk test (6MWT).
  • Why is the baseline six minute walk test (6MWT) between 300 - 450 meters?

    Boys in this range of the six minute walk distance are at the stage of their DMD when they are most likely to show an effect of treatment.
  • Why is the age range 7 - 13 years old?

    To learn if SRP-4045 and SRP-4053 are effective in slowing the progression of DMD, this study will compare 6MWT results between patients who receive active study drug and patients who receive placebo. To allow the clearest comparison, all boys in the study need to be at a similar stage of their DMD.
  • Will I be paid for participating?

    Generally, reasonable costs associated with participation in the study will be prepaid or reimbursed by Sarepta in accordance with the approved travel policy for the study procedures performed as part of the study. Information will be provided by the study site.
  • Why do you need to collect biopsies?

    This study will measure the change in the amount of dystrophin protein in muscle after 48 weeks of treatment in some muscle biopsy samples and after 96 weeks of treatment in others. Because SRP-4045 and SRP-4053 are designed to increase levels of dystrophin in muscle, the only way to show that exon skipping by SRP-4045 or SRP-4053 is working as intended is to test muscle directly. This cannot be studied by testing blood or urine, for example.
  • How long is this clinical trial?

    Your son’s participation in this clinical trial could be up to 3 years long. There is a 96-week double-blind placebo-controlled period during which 2/3 of the participants receive active study drug and 1/3 of the patients receive placebo. The placebo-controlled period is followed by an up to 48-week open label period in which all patients receive active study drug.
  • What are some of the activities my son will be required to do to take part in this study?

    • This clinical trial includes weekly visits to your nearest clinical trial site, where your son will receive an infusion of active study drug or placebo (depending on which treatment group your son is assigned to, and what part of the study he’s in). Your son will also periodically have blood drawn and physical exams done at your local site.
    • Approximately every 12 weeks there will be functional assessments which include tests of walking distance, other walking-related activities, muscle strength, breathing and heart function. You may need to travel to another site other than your nearest clinical trial site to do these functional assessments.
    • There are also 2 muscle biopsies, 1 at the beginning of the study and 1, after either approximately one or two years. Depending on where you live it may be necessary to travel for the biopsy surgery.
    • You can learn more about all of the requirements and activities in this clinical trial from the study doctor.
  • What risks are associated with this study?

    As with all clinical studies, there can be risks associated with possible side effects of taking the study drug and with the standard medical tests carried out as part of the study at each visit. Information on the possible side effects you may experience in the study is available in the consent form and should be discussed with your study doctor.
  • What are some benefits to being a part of this clinical trial?

    The potential benefits of SRP-4045 and SRP-4053 in patients with DMD are unknown. Even if you do not benefit from being in this study, we might learn something that could advance research and help others.

Find a Trial Location

Type in your location to find the nearest clinical trial site. Additional information can be found here.

If interested in this study, please contact a clinical trial site or your healthcare provider.

Coordinates
Kansas
University of Kansas Medical Center
3901 Rainbow Boulevard
66160 KS
United States
Contact:
Kiley Sims
14083141007
Principal Investigator:
Jeffery Statland, MD
Status:
Active, No longer enrolling in USA
Roma
Some Place in Italy
Via Aldo Moro, 8 Ferrara, 44124
00100 RM
Italy
Contact:
Another Person
+393465374262
Principal Investigator:
Italian Person
Status:
This is a test site
California
Children’s Hospital Los Angeles
4650 W Sunset Blvd
90027 CA
United States
Contact:
Claudia Dozal
323-361-5825
Principal Investigator:
Leigh Maria Ramos-Platt, MD
Status:
Active, No longer enrolling in USA
California
David Geffen School of Medicine, UCLA
10833 Le Conte Ave
90095 CA
United States
Contact:
Michael Bonitati
310-825-3264
Principal Investigator:
Perry Shieh, MD, PhD
Status:
Active, No longer enrolling in USA
California
Stanford University School of Medicine/Medical Center
291 Campus Drive
94305 CA
United States
Contact:
Carolyn Mclaughlin
650-206-3178
Principal Investigator:
John Day, MD
Status:
Active, No longer enrolling in USA
California
Rady Children’s Hospital San Diego/ UCSD
3020 Children's Way
92123 CA
United States
Contact:
Rosabel Agbayani
858-966-8208
Principal Investigator:
Carla Grosmann, MD
Status:
Active, No longer enrolling in USA
Connecticut
Connecticut Children’s Medical Center
282 Washington Street
06106 CT
United States
Contact:
Hendriana Nielsen
(860) 837-5881
Principal Investigator:
Gyula Acsadi, MD, PhD
Status:
Withdrawn
Florida
NW Florida Clinical Research Group, LLC
400 Gulf Breeze Pkwy
32561 FL
United States
Contact:
Shae Lancelin
Principal Investigator:
Ben Renfroe, MD
Status:
Active, No longer enrolling in USA
Florida
University of Florida
2004 Mowry Road
32610 FL
United States
Contact:
Stephanie Salabarria
352-273-6582
Principal Investigator:
Barry Byrne, MD, PhD
Status:
Active, No longer enrolling in USA
Georgia
Center for Integrative Rare Disease Research (CIRDR)
1891 Howell Mill Road, NW
30318 GA
United States
Contact:
Krystal Reese
404-829-2380
Principal Investigator:
Han Phan, MD
Status:
Active, No longer enrolling in USA
Illinois
Ann and Robert H. Lurie Children’s Hospital of Chicago
225 E Chicago Ave
60611 IL
United States
Contact:
Theresa Oswald
312-227-4483
Principal Investigator:
Nancy Kuntz, MD
Status:
Active, No longer enrolling in USA
Arizona
Neuromuscular Research Center
4545 E Shea Blvd
85028 AZ
United States
Contact:
Kristy Osgood
14083141007
Principal Investigator:
Kumaraswamy Sivakumar, MD
Status:
Active, No longer enrolling in USA
Massachusetts
Boston Children’s Hospital
300 Longwood Avenue
02115 MA
United States
Contact:
Timothy Harrington
857-218-4677
Principal Investigator:
Basil Darras, MD
Status:
Active, No longer enrolling in USA
Missouri
St. Louis Children’s Hospital
400 S Kingshighway Blvd
63110 MO
United States
Contact:
Traci Christenson
314-362-6991
Principal Investigator:
Ann M Connolly, MD
Status:
Active, No longer enrolling in USA
Nevada
Las Vegas Clinic
351 N Buffalo Dr
89145 NV
United States
Contact:
Kaitlyn McKenna
702-505-4230
Principal Investigator:
Jonathan McKinnon, MD
Status:
Active, No longer enrolling in USA
New York
University of Rochester Clinical Research Center
500 Joseph C Wilson Blvd
14627 NY
United States
Contact:
Patricia Smith
585-275-4339
Principal Investigator:
Emma Ciafaloni, MD
Status:
Active, No longer enrolling in USA
Ohio
Cincinnati Children’s Hospital Medical Center
3333 Burnet Ave
45229 OH
United States
Contact:
Principal Investigator:
John Jefferies, MD
Status:
Active, No longer enrolling in USA
Ohio
Nationwide Children’s Hospital
700 Childrens Dr
43205 OH
United States
Contact:
Lisa Moffitt
614-722-8528
Principal Investigator:
Jerry R Mendell, MD
Status:
Active, No longer enrolling in USA
Oregon
Shriners Hospitals For Children
3101 Southwest Sam Jackson
Park Road
97239 OR
United States
Contact:
Cathleen Buckon
503-221-3471
Principal Investigator:
Erika Finanger, MD, MS
Status:
Active, No longer enrolling in USA
Pennsylvania
Children’s Hospital of Pittsburgh of UPMC
4401 Penn Ave
15224 PA
United States
Contact:
Jennifer M Monahan
412-692-5176
Principal Investigator:
Hoda Z Abdel-Hamid, MD
Status:
Active, No longer enrolling in USA
Pennsylvania
Children’s Hospital of Philadelphia
3401 Civic Center Blvd
19104 PA
United States
Contact:
Michele Bergman
267-425-2111
Principal Investigator:
Gihan Tennekoon, MD
Status:
Active, No longer enrolling in USA
Texas
Children’s Medical Center Dallas
1935 Medical District Drive
75235 TX
United States
Contact:
Holly Lawrence
214-456-2463
Principal Investigator:
Susan Iannaccone, MD
Status:
Active, No longer enrolling in USA
Utah
University of Utah
175 North Medical Center Drive
East
84132 UT
United States
Contact:
Bria Jensen
801-585-9399
Principal Investigator:
Russell Butterfield, MD, PhD
Status:
Active, No longer enrolling in USA
Virginia
Children’s Hospital of the King’s Daughters
601 Children's Lane
23507 VA
United States
Contact:
Terrie Conklin
757-668-9356
Principal Investigator:
Crystal Proud, MD
Status:
Active, No longer enrolling in USA
Wisconsin
Children’s Hospital of Wisconsin
9000 West Wisconsin Avenue
53226 WI
United States
Contact:
Marsha Malloy
(414) 266-6792
Principal Investigator:
Matthew Harmelink, MD
Status:
Active, No longer enrolling in USA
Ferrara
Azienda Ospedaliero-Universitaria di Ferrara – Arcispedale Sant’ Anna
Via Aldo Moro, 8
44124 FE
Italy
Contact:
Fernanda Fortunato 
+393465374262
Principal Investigator:
Claudio Bruno, MD
Status:
Recruiting
Messina
Az Ospedaliera Universitaria Policlinico G Martino
Via Consolare Valeria
98125 ME
Italy
Contact:
Daniela Quattrocchi 
+ 393493500123
Principal Investigator:
Giuseppe Vita, MD
Status:
Recruiting
Roma
Policlinico Universitario A Gemelli
Largo Agostino Gemelli, 8
00168 RM
Italy
Contact:
Mariarosaria Vizzino 
+390630158581
Principal Investigator:
Eugenio Mercuri, MD
Status:
Recruiting
Leeds Teaching Hospitals NHS Trust
Great George St
Leeds LS1 3EX
United Kingdom
Contact:
Heather Rostron
+441133922344
Principal Investigator:
Ann-Marie Childs, MD
Status:
Recruiting
Alder Hey Children’s Hospital
Alder Hey Children's NHS Foundation Trust,
Alder Hey Children's Hospital Eaton Road
Liverpool L12 2AP
United Kingdom
Contact:
Timothy Henderson
+441512525164
Principal Investigator:
Stefan Spinty, MD
Status:
Recruiting
Great Ormond Street Hospital (GOSH)
30 Guilford Street
London WC1N 1EH
United Kingdom
Contact:
Hinal Patel
020 7905 2639 ext 2639
Principal Investigator:
Francesco Muntoni, MD
Status:
Recruiting
The Royal Victoria Infirmary
Queen Victoria Road New
Queen Victoria Road New Victoria Wing
Newcastle Upon Tyne NE1 4LP
United Kingdom
Contact:
Valerie Corrall
+4401912084569
Principal Investigator:
Volker Straub, MD
Status:
Recruiting
Alberta
Alberta Childrens Hospital
2888 Shaganappi Trail
Northwest
T3B 6A8 AB
Canada
Contact:
Trevor Rutschmann
403-955-3192
Principal Investigator:
Jean Mah
Status:
Recruiting
British Columbia
Children’s and Women’s Health Centre of British Columbia
4480 Oak Street
V6H 3V4 BC
Canada
Contact:
Conrado De Guzman
(604) 875-2345 xext6834
Principal Investigator:
Kathryn Selby
Status:
Recruiting
Ontario
London Health Sciences Centre
800 Commissioners Road East
N6A 5W9 ON
Canada
Contact:
Gina Bhullar
(519) 685-8500 ext 55058
Principal Investigator:
Craig Campbell
Status:
Recruiting
Barcelona
Hospital de La Santa Creu i Sant Pau
Calle Mas Casanovas, 90 08041
08041 Barcelona
Spain
Contact:
Nuria Vidal
+34935537115
Principal Investigator:
Jorge Diaz Manera, MD
Status:
Recruiting
Barcelona
Hospital Sant Joan de Deu
Passeig Sant Joan de Déu, 2,
Esplugues de Llobregat
08950 Barcelona
Spain
Contact:
Marina Garcia 
+34936009733
Principal Investigator:
Andres Nascimento, MD
Status:
Recruiting
Valencia
Hospital Universitari i Politecnic La Fe de Valencia
Avenida Fernando Abril
Martorell
46206 Valencia
Spain
Contact:
Pilar Marti
+34961244000
Principal Investigator:
Juan Jesus Vilchez Padilla, MD
Status:
Recruiting
Hôpital Armand Trousseau
26 Avenue du Dr Netter
Paris 75012
France
Contact:
Dominique Duchêne
33171738313
Principal Investigator:
Laurent Servais
Status:
Recruiting
Reference Centre for Neuromuscular Diseases
1 Place Alexis-Ricordeau
Nantes 44093
France
Contact:
Christelle Peseux
+33240087880
Principal Investigator:
Yann Péréon
Status:
Recruiting
Hôpital Des Enfants
330 Avenue De Grande Bretagne
Toulouse, Haute-Garonne 31059
France
Contact:
Francoise Auriol
+33534558589
Principal Investigator:
Claude Cances
Status:
Recruiting
niversitätsklinikum Essen
Hufelandstraße 55
Essen 45147
Germany
Contact:
Corinna Seifert
+4920172385170
Principal Investigator:
Ulrike Schara, MD
Status:
Recruiting
University Hospital Freiburg
Mathildenstraße 1
Freiburg 79106
Germany
Contact:
Sabine Wider
+4976127043440
Principal Investigator:
Janbernd Kirschner, MD
Status:
Recruiting
LMU Klinikum der Universität München
Lindwurmstraße 4
Munich 80337
Germany
Contact:
Astrid Blaschek
+4989440055110
Principal Investigator:
Wolfgang Müller-Felber, MD
Status:
Recruiting
Fakultni nemocnice v Motole
V Uvalu 84
Praha 150 08
Czechia
Contact:
Marcela Hlozankova
+420224433367
Principal Investigator:
Jana Haberlová
Status:
Recruiting
University Hospital Brno
Cernopolni 9
Brno 61300
Czechia
Contact:
Lenka Jurikova
+420532234919
Principal Investigator:
Lenka Jurikova
Status:
Recruiting
Universitair Ziekenhuis Gent
De Pintelaan 185, Ghent,
Flemish Region 9000
Ghent 9000
Belgium
Contact:
Elke De Vos
+3293321954
Principal Investigator:
Nicolas Deconinck, MD
Status:
Recruiting
Universitair Ziekenhuis Leuven
Herestraat 49, Leuven
Flemish Region
Leuven 3000
Belgium
Contact:
Anne Vanden Eynden
+3216343991
Principal Investigator:
Nathalie Goemans, MD
Status:
Recruiting
Drottning Silvias Barn Och Ungdomssjukhus
Rondvägen 10
SE
Göteborg 41685
Sweden
Contact:
Anna-Lena Tulinius 
+46313436069
Principal Investigator:
Mar Tulinius, MD
Status:
Recruiting
Victoria
Royal Children’s Hospital Melbourne
Flemington Road
3052 VIC
Australia
Contact:
Jemima Mitchell
+61399366157
Principal Investigator:
Monique Ryan
Status:
Recruiting
Samodzielny Publiczny Centralny Szpital Kliniczny
Stefana Banacha 1a
Warszawa, Mazowieckie 02-097
Poland
Contact:
Aleksandra Jastrzebska
+48503633513
Principal Investigator:
Anna Kostera-Pruszczyk
Status:
Recruiting
Schneider Children’s Medical Center of Israel – Petah Tikvah
14 Kaplan Street
Petah Tikva 49100
Israel
Contact:
Ori Raz
(972) 525-1860 x44
Principal Investigator:
Yoram Nevo
Status:
Recruiting
Semmelweis Egyetem Genomikai Medicina és Ritka Betegsegek Intezete
Tomo utca 25-29
Budapest 1083
Hungary
Contact:
Noemi Toreki
+3614591492
Principal Investigator:
Maria Judith Molnar
Status:
Not Yet Recruiting
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