Trial Outcomes & Findings for A 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 in Subjects With DuchenneMuscular Dystrophy Carrying Eligible DMD Duplications. (NCT NCT04179409)

Last Updated: 2023-10-26

Results Overview

This will be assessed by the comparison of quantification of protein in muscle biopsy tissue by western blot from baseline to 1 year post-initiation of treatment.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

3 participants

Primary outcome timeframe

Baseline, 1 year

Results posted on

2023-10-26

Participant Flow

Participant milestones

Participant milestones
Measure	AMONDYS 45 This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	VYONDYS 53 This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.
Overall Study STARTED	2	1
Overall Study COMPLETED	2	1
Overall Study NOT COMPLETED	0	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

A 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 in Subjects With DuchenneMuscular Dystrophy Carrying Eligible DMD Duplications.

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	AMONDYS 45 n=2 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	EXONDYS 51 This arm will involve the treatment of boys with DMD who have a duplication of exon 51, for which EXONDYS 51 will target skipping of this exon. EXONDYS 51: This drug is used to target skipping of exon 51 of the dystrophin gene.	VYONDYS 53 n=1 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.	Total n=3 Participants Total of all reporting groups
Age, Customized Age	12 Years STANDARD_DEVIATION 6 • n=5 Participants	—	23 Years STANDARD_DEVIATION 0 • n=5 Participants	16 Years STANDARD_DEVIATION 7 • n=4 Participants
Sex/Gender, Customized Male	2 Participants n=5 Participants	—	1 Participants n=5 Participants	3 Participants n=4 Participants
Sex/Gender, Customized Female	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	1 Participants n=5 Participants	—	0 Participants n=5 Participants	1 Participants n=4 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	1 Participants n=5 Participants	—	1 Participants n=5 Participants	2 Participants n=4 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) Asian	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) White	2 Participants n=5 Participants	—	1 Participants n=5 Participants	3 Participants n=4 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants	—	0 Participants n=5 Participants	0 Participants n=4 Participants
Region of Enrollment United States	2 participants n=5 Participants	—	1 participants n=5 Participants	3 participants n=4 Participants

PRIMARY outcome

Timeframe: Baseline, 1 year

Population: We did not enroll any participants in the EXONDYS 51 treatment arm.

This will be assessed by the comparison of quantification of protein in muscle biopsy tissue by western blot from baseline to 1 year post-initiation of treatment.

Outcome measures

Outcome measures
Measure	AMONDYS 45 n=2 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	EXONDYS 51 This arm will involve the treatment of boys with DMD who have a duplication of exon 51, for which EXONDYS 51 will target skipping of this exon. EXONDYS 51: This drug is used to target skipping of exon 51 of the dystrophin gene.	VYONDYS 53 n=1 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.
Change in Dystrophin Expression From Baseline Following Treatment With Either AMONDYS 45 (Previously Casimersen), EXONDYS 51 (Previously Eteplirsen ), or VYONDYS 53 (Previously Golodirsen)	3.1 Percent of Healthy Control Standard Deviation 1.8	—	6.1 Percent of Healthy Control Standard Deviation 0

PRIMARY outcome

Timeframe: 1 year

Population: We did not enroll any participants in the EXONDYS 51 treatment arm.

This will be measured by capturing and reviewing Adverse Events as defined by CTCAE v4.0.

Outcome measures

Outcome measures
Measure	AMONDYS 45 n=2 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	EXONDYS 51 This arm will involve the treatment of boys with DMD who have a duplication of exon 51, for which EXONDYS 51 will target skipping of this exon. EXONDYS 51: This drug is used to target skipping of exon 51 of the dystrophin gene.	VYONDYS 53 n=1 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.
Monitoring for the Development of Unacceptable Toxicity.	17 Events	—	11 Events

SECONDARY outcome

Timeframe: 1 year

Population: We did not enroll any participants in the EXONDYS 51 treatment arm.

This will be assessed by the comparison of immunofluorescent staining in muscle biopsy tissue from baseline to 1 year post-initiation of treatment.

Outcome measures

Outcome measures
Measure	AMONDYS 45 n=2 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	EXONDYS 51 This arm will involve the treatment of boys with DMD who have a duplication of exon 51, for which EXONDYS 51 will target skipping of this exon. EXONDYS 51: This drug is used to target skipping of exon 51 of the dystrophin gene.	VYONDYS 53 n=1 Participants This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.
Change in Dystrophin Expression From Baseline Following Treatment With Either AMONDYS 45 (Previously Casimersen), EXONDYS 51 (Previously Eteplirsen ), or VYONDYS 53 (Previously Golodirsen).	38 % Dystrophin Postive Fibers Standard Deviation 25	—	30.8 % Dystrophin Postive Fibers Standard Deviation 0

Adverse Events

AMONDYS 45

Serious events: 0 serious events

Other events: 2 other events

Deaths: 0 deaths

EXONDYS 51

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

VYONDYS 53

Serious events: 0 serious events

Other events: 1 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Additional Information

Dr. Kevin Flanigan, Center for Gene Therapy Director

Abigail Wexner Research Institute, Nationwide Children's Hospital

Phone: 614-722-5615

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place

Measure	AMONDYS 45 n=2 participants at risk This arm will involve the treatment of boys with DMD who have a duplication of exon 45, for which AMONDYS 45 will target skipping of this exon. AMONDYS 45: This drug is used to target skipping of exon 45 of the dystrophin gene.	EXONDYS 51 This arm will involve the treatment of boys with DMD who have a duplication of exon 51, for which EXONDYS 51 will target skipping of this exon. EXONDYS 51: This drug is used to target skipping of exon 51 of the dystrophin gene.	VYONDYS 53 n=1 participants at risk This arm will involve the treatment of boys with DMD who have a duplication of exon 53, for which VYONDYS 53 will target skipping of this exon. VYONDYS 53: This drug is used to target skipping of exon 53 of the dystrophin gene.
Blood and lymphatic system disorders Leukocytosis	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Blood and lymphatic system disorders Decreased Hemoglobin	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Gastrointestinal disorders Constipation	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
General disorders Procedural Discomfort	100.0% 2/2 • Number of events 4 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 3 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Renal and urinary disorders Kidney Stones	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Renal and urinary disorders Incontinence	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Vascular disorders Bruising	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Respiratory, thoracic and mediastinal disorders Asthma	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Skin and subcutaneous tissue disorders Procedural Discomfort	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Skin and subcutaneous tissue disorders Wound Dihiscence	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
General disorders Laceration	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
General disorders Headache	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Respiratory, thoracic and mediastinal disorders Nasal Congestion	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Skin and subcutaneous tissue disorders Rash	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Skin and subcutaneous tissue disorders Pruritis	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
Skin and subcutaneous tissue disorders Erythema	0.00% 0/2 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
General disorders Correction of a Congenital Defect	50.0% 1/2 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	0.00% 0/1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.
General disorders Non-Procedural Discomfort	50.0% 1/2 • Number of events 3 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	— 0/0 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.	100.0% 1/1 • Number of events 1 • Data was collected over 1 year. We did not enroll any participants in the EXONDYS 51 treatment arm.