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A study to test if multiple injections of BMN 045 under the skin are safe and effective in people who suffer from Duchenne muscular dystrophy

Phase 1
Conditions
Duchenne muscular dystrophy resulting from a mutation correctable by BMN 045-induced DMD exon 45 skipping
MedDRA version: 18.1Level: PTClassification code 10013801Term: Duchenne muscular dystrophySystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]
Registration Number
EUCTR2011-005040-10-GB
Lead Sponsor
BioMarin Pharmaceutical Inc.
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
Male
Target Recruitment
15
Inclusion Criteria

Duchenne muscular dystrophy resulting from a mutation correctable by treatment with BMN 045 confirmed by a state-of-the-art DNA diagnostic
technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH
(Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or HRMCA (High-Resolution Melting Curve Analysis).

Ambulant boys aged at least 5 years on the day of first dosing able to walk for at least 230 meters in the 6 minute walking distance (6MWD) at the first screening visit and also at the baseline visit. In addition, 2 of the 3 pre-treatment 6MWD tests (screen 1, screen 2, baseline) must be within ± 30 meters of each other prior to first BMN 045 administration.
Adequate quality for biopsy (confirmed with MRI) of the lateral head of the gastrocnemius muscle. An alternative muscle may be considered for biopsy but only following discussion between the Principal Investigator and the Prosensa Medical Monitor.

Life expectancy of at least 3 years after inclusion in the study.

Glucocorticosteroid use which is stable for at least 3 months prior to first BMN 045 administration. Subjects must have been receiving glucocorticosteroids for at least 6 months prior to the first BMN 045 administration.

Willing and able to adhere to the study visit schedule and other protocol requirements.

Written informed consent signed (by parent(s)/legal guardian and/or the subject, according to the local regulations).

In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category.
Are the trial subjects under 18? yes
Number of subjects for this age range: 45
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Known presence of dystrophin in =5% of fibres in a pre-study diagnostic muscle biopsy (i.e. historic muscle biopsy taken prior to written informed consent for this study).

Current or history of liver disease or impairment.

Current or history of renal disease or impairment.

At least two aPTT above ULN within the last month.

Screening platelet count below the lower limit of normal (LLN).

Acute illness within 4 weeks prior to first dose of BMN 045 which may interfere with the study assessments.

Severe mental retardation or behavioural problems which, in the opinion of the investigator, prohibit participation in this study.

Severe cardiomyopathy which in the opinion of the investigator prohibits participation in this study. If a subject has a left ventricular ejection fraction <45% at screening, the investigator should discuss inclusion of the subject with the Medical Monitor.

Expected need for daytime mechanical ventilation within the next year.

Use of anticoagulants, antithrombotics or antiplatelet agents.

Use of idebenone or other forms of coenzyme Q10 within 1 month prior to the start of the screening for the study.

Use of nutritional or herbal supplements which, in the opinion of the investigator, may influence muscle performance, within1 month of the study

Use of any other investigational product or participation in another trial with an investigational product, within 6 months prior to the start of the screening for the study.

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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