Gentamicin for Junctional Epidermolysis Bullosa

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

6 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-06-01

Study Completion Date

2020-08-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Herlitz junctional epidermolysis bullosa (H-JEB), an incurable, fatal, inherited skin disease, is caused by loss-of-function mutations in the LAMA3, LAMB3 or LAMC2 genes, resulting in loss of laminin 332 and poor epidermal-dermal adherence. Eighty percent of H-JEB patients have LAMB3 mutations and about 95% of these are nonsense mutations. The investigators recently demonstrated that gentamicin readily induced nonsense mutation readthrough and produced full-length laminin beta3 in several nonsense mutations tested. Importantly, the gentamicin-induced laminin beta3 restored laminin 332 assembly, secretion, and deposition into the dermal-epidermal junction (DEJ). Newly induced laminin 332 reversed abnormal H-JEB cellular phenotypes. Herein, the investigators propose the first clinical trial of gentamicin (by topical and intravenous administration) in JEB patients with nonsense mutations. The milestones will include restored laminin 332 and hemidesmosomes at the DEJ, improved wound closure, and the absence of significant gentamicin side effects.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)

NCT03392909

Recessive Dystrophic Epidermolysis Bullosa

UNKNOWN PHASE1/PHASE2

Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs

NCT01033552

Epidermolysis Bullosa

COMPLETED PHASE1/PHASE2

Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa

NCT03578029

Junctional Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa

TERMINATED PHASE2

Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer

NCT00533572

Epidermolysis Bullosa Dystrophica

TERMINATED

Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa

NCT02670330

Epidermolysis Bullosa

TERMINATED PHASE3

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Three subjects (adults and children of any age) will receive topical gentamicin to be applied to select skin sites.

Three subjects (adults and children of any age) will receive intravenous (IV) gentamicin infusions.

Patients will be assessed for Primary and Secondary endpoints during follow up visits.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Junctional Epidermolysis Bullosa

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Gentamicin Sulfate

IV Arm:

7.5 mg/kg gentamicin once daily for 14 days.

Topical Arm:

0.5% gentamicin ointment applied twice daily for 14 days to selected skin sites.

Group Type EXPERIMENTAL

Gentamicin Sulfate

Intervention Type DRUG

Gentamicin (formulated as gentamicin sulfate) is a well-known, well-characterized antibiotic that has been used for four decades as a treatment against gram negative bacteria. It, like other aminoglycoside antibiotics, has the well documented added potential to facilitate readthrough of premature termination codons in eukaryotic cells and organisms.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Gentamicin Sulfate

Gentamicin (formulated as gentamicin sulfate) is a well-known, well-characterized antibiotic that has been used for four decades as a treatment against gram negative bacteria. It, like other aminoglycoside antibiotics, has the well documented added potential to facilitate readthrough of premature termination codons in eukaryotic cells and organisms.

Intervention Type DRUG

Other Intervention Names

Discover alternative or legacy names that may be used to describe the listed interventions across different sources.

Gentamicin

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1\. JEB patients with nonsense mutations in the LAMB3 gene in either one or two alleles.

Exclusion Criteria

1. JEB patients who do not have nonsense mutations in the LAMB3 gene in either allele.
2. Pre-existing known auditory impairment.
3. Pre-existing known renal impairment.
4. Pre-existing known allergies to aminoglycosides or sulfate compounds.
5. Pregnancy.

Eligible Sex

ALL

Accepts Healthy Volunteers

No