Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons
Primary Purpose
Duchenne Muscular Dystrophy
Status
Completed
Phase
Phase 1
Locations
United States
Study Type
Interventional
Intervention
Gentamicin infusions twice a week for six months
Sponsored by
About this trial
This is an interventional treatment trial for Duchenne Muscular Dystrophy focused on measuring Stop codon mutations
Eligibility Criteria
Inclusion Criteria:
- Age 5-20 years
- Duchenne muscular dystrophy documented by written report of stop codon mutation analysis of the dystrophin gene.
- Subject is capable of cooperating for efficacy and safety testing
- Absent dystrophin on muscle biopsy
- Subjects may be untreated, taking prednisone or comparable corticosteroids
- Subjects taking corticosteroids must be on the same dose for at least 3 months (90 days) prior to the start of the study.
Exclusion Criteria:
- Known allergy to any aminoglycoside or sulfate compounds
- Current use of potential nephrotoxic or ototoxic drug
- Current use of corticosteroids has not been stable for 3 months (90) days
- Known mutation at nucleotide 1555 in 12S rRNA gene of mitochondrial DNA (predisposes to aminoglycoside hearing loss and commercially available via Athena Diagnostics Lab). This DNA testing (Hearing susceptibility test) will be made available through funding from this grant.
- Inability to hear within the range of 0 to 25 dB in any hearing frequency by pure tone audiometry
- Cystatin C equal to or > 1.4mg/L
- Other medical condition that would impede the conduct of study (e.g., congestive heart failure)
Sites / Locations
- Neuromuscular Research Institute - Scottsdale Healthcare Hopsital at Shea
- University of Kansas
- The Research Institute at Nationwide Children's Hospital
Outcomes
Primary Outcome Measures
In this phase 1 clinical trial, safety will be measured via gentamicin trough levels, audiology, and renal function tests. These lab tests will remain in the normal range while infusing gentamicin twice a week for 6 month.
Secondary Outcome Measures
Determine if gentamicin given over six months improves muscle strength.
Determine if gentamicin given over six months increases dystrophin binding at the muscle membrane.
Full Information
NCT ID
NCT00451074
First Posted
March 21, 2007
Last Updated
March 22, 2012
Sponsor
Nationwide Children's Hospital
Collaborators
National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
1. Study Identification
Unique Protocol Identification Number
NCT00451074
Brief Title
Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons
Official Title
A Six Month Randomized, Clinical Trial of Gentamicin in Duchenne Muscular Dystrophy Subjects With Stop Codon Mutations
Study Type
Interventional
2. Study Status
Record Verification Date
March 2012
Overall Recruitment Status
Completed
Study Start Date
March 2007 (undefined)
Primary Completion Date
July 2009 (Actual)
Study Completion Date
July 2009 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Nationwide Children's Hospital
Collaborators
National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
The purpose of this study is to determine the safety of giving intravenous (IV) gentamicin to boys with Duchenne muscular dystrophy who have stop codon mutations.
Detailed Description
The primary purpose of this second cohort is to see if the IV Medication, gentamicin, is safe to give twice a week for six months to boys with Duchenne muscular dystrophy (DMD). Secondarily, we want to know if gentamicin can help strengthen the muscles of boys with DMD who have a particular type of genetic mutation known as a stop codon. The gentamicin is thought to allow for "read-through" of this type of mutation which would allow for the production of dystrophin, a protein which is lacking in boys with DMD.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Duchenne Muscular Dystrophy
Keywords
Stop codon mutations
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 1
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
12 (Actual)
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
Gentamicin infusions twice a week for six months
Intervention Description
Gentamicin infusions twice a week
Primary Outcome Measure Information:
Title
In this phase 1 clinical trial, safety will be measured via gentamicin trough levels, audiology, and renal function tests. These lab tests will remain in the normal range while infusing gentamicin twice a week for 6 month.
Time Frame
6 months
Secondary Outcome Measure Information:
Title
Determine if gentamicin given over six months improves muscle strength.
Time Frame
6 months
Title
Determine if gentamicin given over six months increases dystrophin binding at the muscle membrane.
Time Frame
6 months
10. Eligibility
Sex
Male
Minimum Age & Unit of Time
5 Years
Maximum Age & Unit of Time
20 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Age 5-20 years
Duchenne muscular dystrophy documented by written report of stop codon mutation analysis of the dystrophin gene.
Subject is capable of cooperating for efficacy and safety testing
Absent dystrophin on muscle biopsy
Subjects may be untreated, taking prednisone or comparable corticosteroids
Subjects taking corticosteroids must be on the same dose for at least 3 months (90 days) prior to the start of the study.
Exclusion Criteria:
Known allergy to any aminoglycoside or sulfate compounds
Current use of potential nephrotoxic or ototoxic drug
Current use of corticosteroids has not been stable for 3 months (90) days
Known mutation at nucleotide 1555 in 12S rRNA gene of mitochondrial DNA (predisposes to aminoglycoside hearing loss and commercially available via Athena Diagnostics Lab). This DNA testing (Hearing susceptibility test) will be made available through funding from this grant.
Inability to hear within the range of 0 to 25 dB in any hearing frequency by pure tone audiometry
Cystatin C equal to or > 1.4mg/L
Other medical condition that would impede the conduct of study (e.g., congestive heart failure)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Jerry R. Mendell, M.D.
Organizational Affiliation
The Research Institute at Nationwide Children's Hospital/ Nationwide Children's Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Neuromuscular Research Institute - Scottsdale Healthcare Hopsital at Shea
City
Scottsdale
State/Province
Arizona
ZIP/Postal Code
85258
Country
United States
Facility Name
University of Kansas
City
Kansas City
State/Province
Kansas
ZIP/Postal Code
66160-0001
Country
United States
Facility Name
The Research Institute at Nationwide Children's Hospital
City
Columbus
State/Province
Ohio
ZIP/Postal Code
43205-2696
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
21179598
Citation
Malik V, Rodino-Klapac LR, Viollet L, Mendell JR. Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. Ther Adv Neurol Disord. 2010 Nov;3(6):379-89. doi: 10.1177/1756285610388693.
Results Reference
result
PubMed Identifier
20517938
Citation
Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD, Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM, Sahenk Z, Barohn RJ, Walker CM, Mendell JR. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol. 2010 Jun;67(6):771-80. doi: 10.1002/ana.22024.
Results Reference
result
Links:
URL
http://www.nationwidechildrens.org/center-for-gene-therapy
Description
Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital
Learn more about this trial
Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons
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