A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
Primary Purpose
Muscular Dystrophies
Status
Terminated
Phase
Phase 2
Locations
Study Type
Interventional
Intervention
Drisapersen
Sponsored by
About this trial
This is an interventional treatment trial for Muscular Dystrophies focused on measuring drisapersen
Eligibility Criteria
Inclusion Criteria:
- Boys aged between 5 and 16 years inclusive.
- Duchenne muscular dystrophy resulting from a mutation correctable by treatment with PRO051.
- Not ventilator dependent.
- Life expectancy of at least six months.
- No previous treatment with investigational medicinal treatment within six months prior to the study.
- Willing and able to adhere to the study visit schedule and other protocol requirements.
Exclusion Criteria:
- Aberrant RNA splicing and/or aberrant response to PRO051, detected by in vitro PRO051 assay during screening.
- Known presence of dystrophin in 5% of fibers in a pre-study diagnostic muscle biopsy.
- Severe muscle abnormalities defined as increased signal intensity in >50% of the tibialis anterior muscle at MRI.
- FEV1 and/or FVC <60% of predicted.
- Current or history of liver or renal disease.
- Acute illness within 4 weeks prior to treatment (Day 1) which may interfere with the measurements.
- Severe mental retardation which in the opinion of the investigator prohibits participation in this study.
- Severe cardiac myopathy which in the opinion of the investigator prohibits participation in this study.
- Need for mechanical ventilation.
- Creatinine concentration above 1.5 times the upper limit of normal (age corrected).
- Serum ASAT and/or ALAT concentration(s) which suggest hepatic impairment.
- Use of anticoagulants, antithrombotics or antiplatelet agents.
- Subject has donated blood less than 90 days before the start of the study.
- Current or history of drug and/or alcohol abuse.
- Participation in another trial with an investigational product.
Sites / Locations
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Drisapersen
Arm Description
Extension phase of treatment. Intravenous dosing of drisapersen will be investigated as an alternative route of administration
Outcomes
Primary Outcome Measures
Acute phase: Safety data
Summarized per dose group
Acute phase and Continued Treatment Phase : Pharmacokinetics measured by T1/2, Cmax, Ctrough, 7d, tmax, and volume of distribution and clearance
Plasma concentration versus time profiles of PRO051 (GSK2402968)
Acute phase and Continued Treatment Phase : Safety as assessed by the collection of adverse events (AEs)
Change from baseline and summarized values
Continued Treatment Phase :Safety as assessed by laboratory parameters
Change from baseline and summarized values
Secondary Outcome Measures
Acute phase: Production of exon skip 51 messenger Ribonucleic acid (mRNA)
Acute phase: Presence of dystrophin expression
Acute phase: Muscle function
Timed tests and 6-minutes walk
Acute phase: Muscle strength
Quantitative Muscle Testing [QMT]- Cooperative International Neuromuscular Research Group (CINRG) and Manual Muscle Testing [MMT]
Continued Treatment Phase: Exon skip efficiency
Continued Treatment Phase Dystrophin expression in muscle biopsy
Continued Treatment Phase: Muscle function
Timed tests and 6-minutes walk
Continued Treatment Phase: Muscle strength
Handheld myometry and spirometry
Full Information
NCT ID
NCT01910649
First Posted
August 2, 2012
Last Updated
November 4, 2016
Sponsor
BioMarin Pharmaceutical
1. Study Identification
Unique Protocol Identification Number
NCT01910649
Brief Title
A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
Official Title
A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess the Effect, Safety, Tolerability and Pharmacokinetics of Multiple Subcutaneous Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for Intravenous Dosing as an Alternative Route of Administration
Study Type
Interventional
2. Study Status
Record Verification Date
November 2016
Overall Recruitment Status
Terminated
Why Stopped
Regulatory approval was not obtained for drisapersen, hence BioMarin is stopping the development of all exon skipping oligonucleotides in DMD.
Study Start Date
March 2008 (undefined)
Primary Completion Date
September 2016 (Actual)
Study Completion Date
September 2016 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
BioMarin Pharmaceutical
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
The purpose of the extension phase of this study is to determine whether Drisapersen is effective in the treatment of boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophies
Keywords
drisapersen
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
12 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Drisapersen
Arm Type
Experimental
Arm Description
Extension phase of treatment. Intravenous dosing of drisapersen will be investigated as an alternative route of administration
Intervention Type
Drug
Intervention Name(s)
Drisapersen
Other Intervention Name(s)
PRO051
Intervention Description
Subcutaneous and Intravenous
Primary Outcome Measure Information:
Title
Acute phase: Safety data
Description
Summarized per dose group
Time Frame
18 weeks
Title
Acute phase and Continued Treatment Phase : Pharmacokinetics measured by T1/2, Cmax, Ctrough, 7d, tmax, and volume of distribution and clearance
Description
Plasma concentration versus time profiles of PRO051 (GSK2402968)
Time Frame
18 weeks
Title
Acute phase and Continued Treatment Phase : Safety as assessed by the collection of adverse events (AEs)
Description
Change from baseline and summarized values
Time Frame
72 weeks
Title
Continued Treatment Phase :Safety as assessed by laboratory parameters
Description
Change from baseline and summarized values
Time Frame
72 weeks
Secondary Outcome Measure Information:
Title
Acute phase: Production of exon skip 51 messenger Ribonucleic acid (mRNA)
Time Frame
18 weeks
Title
Acute phase: Presence of dystrophin expression
Time Frame
18 weeks
Title
Acute phase: Muscle function
Description
Timed tests and 6-minutes walk
Time Frame
18 weeks
Title
Acute phase: Muscle strength
Description
Quantitative Muscle Testing [QMT]- Cooperative International Neuromuscular Research Group (CINRG) and Manual Muscle Testing [MMT]
Time Frame
18 weeks
Title
Continued Treatment Phase: Exon skip efficiency
Time Frame
72 weeks
Title
Continued Treatment Phase Dystrophin expression in muscle biopsy
Time Frame
72 weeks
Title
Continued Treatment Phase: Muscle function
Description
Timed tests and 6-minutes walk
Time Frame
300 weeks
Title
Continued Treatment Phase: Muscle strength
Description
Handheld myometry and spirometry
Time Frame
300 weeks
10. Eligibility
Sex
Male
Minimum Age & Unit of Time
5 Years
Maximum Age & Unit of Time
16 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Boys aged between 5 and 16 years inclusive.
Duchenne muscular dystrophy resulting from a mutation correctable by treatment with PRO051.
Not ventilator dependent.
Life expectancy of at least six months.
No previous treatment with investigational medicinal treatment within six months prior to the study.
Willing and able to adhere to the study visit schedule and other protocol requirements.
Exclusion Criteria:
Aberrant RNA splicing and/or aberrant response to PRO051, detected by in vitro PRO051 assay during screening.
Known presence of dystrophin in 5% of fibers in a pre-study diagnostic muscle biopsy.
Severe muscle abnormalities defined as increased signal intensity in >50% of the tibialis anterior muscle at MRI.
FEV1 and/or FVC <60% of predicted.
Current or history of liver or renal disease.
Acute illness within 4 weeks prior to treatment (Day 1) which may interfere with the measurements.
Severe mental retardation which in the opinion of the investigator prohibits participation in this study.
Severe cardiac myopathy which in the opinion of the investigator prohibits participation in this study.
Need for mechanical ventilation.
Creatinine concentration above 1.5 times the upper limit of normal (age corrected).
Serum ASAT and/or ALAT concentration(s) which suggest hepatic impairment.
Use of anticoagulants, antithrombotics or antiplatelet agents.
Subject has donated blood less than 90 days before the start of the study.
Current or history of drug and/or alcohol abuse.
Participation in another trial with an investigational product.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
N Goemans, Dr.
Organizational Affiliation
UZ Leuven
Official's Role
Principal Investigator
12. IPD Sharing Statement
Citations:
PubMed Identifier
21428760
Citation
Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, Holling T, Janson AA, Platenburg GJ, Sipkens JA, Sitsen JM, Aartsma-Rus A, van Ommen GJ, Buyse G, Darin N, Verschuuren JJ, Campion GV, de Kimpe SJ, van Deutekom JC. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med. 2011 Apr 21;364(16):1513-22. doi: 10.1056/NEJMoa1011367. Epub 2011 Mar 23. Erratum In: N Engl J Med. 2011 Oct 6;365(14):1361.
Results Reference
result
PubMed Identifier
27588424
Citation
Goemans NM, Tulinius M, van den Hauwe M, Kroksmark AK, Buyse G, Wilson RJ, van Deutekom JC, de Kimpe SJ, Lourbakos A, Campion G. Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study. PLoS One. 2016 Sep 2;11(9):e0161955. doi: 10.1371/journal.pone.0161955. eCollection 2016.
Results Reference
derived
Learn more about this trial
A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
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