Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons

Nationwide Children's Hospital

Status and phase

Completed

Phase 1

Conditions

Duchenne Muscular Dystrophy

Treatments

Drug: Gentamicin infusions twice a week for six months

Study type

Interventional

Funder types

Other

NIH

Identifiers

NCT00451074

7R01NS043186 (U.S. NIH Grant/Contract)

NS043186

Details and patient eligibility

About

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.

Full 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.

Enrollment

12 patients

Sex

Male

Ages

5 to 20 years old

Volunteers

No Healthy Volunteers

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)