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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A1555G

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 A Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of ME1100 Inhalation Solution (Arbekacin Inhalation Solution) Administered to Healthy Volunteers

This is a single-center, randomized, double-blind, placebo-controlled, sequential group study. The primary objective of this study is to assess the tolerability and safety of single doses of ME1100 inhalation solution (orally inhaled arbekacin). The secondary objective is to determine the systemic exposure to, and urinary elimination of, ME1100.

NCT01907776
Conditions
  1. Healthy
Interventions
  1. Drug: ME1100 inhalation solution
  2. Drug: ME1100 placebo inhalation solution

heteroplasmy) suggestive of increased risk of hearing loss (MT-RNR1 [A1555G] for mitochondrial 12S ribosomal RNA gene or MT-TS1 [A3243G] for mitochondrial transfer RNA serine 1) - History of parent, sibling or parental sibling reporting hearing loss before age 65 years - History of malignancy - History of clinically significant alcohol or drug abuse - History within last 6 months or current use of any tobacco product including e-cigarettes - Positive drug screen for drugs of abuse - Positive test for HIV, Hepatitis B or Hepatitis C - Use of any prescription or over-the-counter medications (except oral or hormonal contraceptives), herbal supplements, or vitamins within 14 days of Visit 2 - Known hypersensitivity to any aminoglycoside or bacitracin antibiotic - Female of childbearing potential with a positive urine pregnancy test, or currently breast feeding. --- A1555G ---

Primary Outcomes

Measure: Number of participants with adverse events

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal physical examinations

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal 12-lead electrocardiograms

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal vital signs

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal safety laboratory measurements

Time: from Baseline to Day 8-10

Secondary Outcomes

Measure: Serum Concentration of ME1100

Time: 5, 15, 30 minutes and 1, 2, 3, 4, 6, 8, 12, 18 and 24 hours post START of dosing

Measure: Urinary elimination of ME1100

Time: 0-6, 6-12, 12-24, 24-48 and 48-72 hours after single dosing

2 An Open-label, Single Dose Study to Assess Intrapulmonary Pharmacokinetics of ME1100 Inhalation Solution Administered to Healthy Volunteers

This is a single-center, open-label, single-dose study. The primary objective is to determine Epithelial Lining Fluid (ELF) levels of ME1100 after a single orally inhaled dose. The secondary objectives are to determine systemic exposure to inhaled ME1100 and to assess tolerability and safety of a single dose of ME1100 inhalation solution.

NCT01961830
Conditions
  1. Healthy
Interventions
  1. Drug: ME1100 inhalation solution

heteroplasmy) suggestive of increased risk of hearing loss (MT-RNR1 [A1555G] for mitochondrial 12S ribosomal RNA gene or MT-TS1 [A3243G] for mitochondrial transfer RNA serine 1) - History of parent, sibling or parental sibling reporting hearing loss before age 65 years - History of malignancy - History of clinically significant alcohol or drug abuse - History within last 6 months or current use of any tobacco products including e-cigarettes. --- A1555G ---

Primary Outcomes

Description: Each subject will undergo fiber-optic bronchoscopy for the collection of bronchoalveolar lavage fluid at one of the following time points:5 minutes after END of dosing, 0.5, 1, 3, 6 and 12 hrs post START of dosing.

Measure: Pharmacokinetics profile in ELF

Time: 0-12 hours after START of Dosing

Secondary Outcomes

Measure: Serum Concentration of ME1100

Time: 2, 5, 10 minutes after END of dosing, 0.5, 1, 3, 6 and 12 hrs post START of dosing

Measure: Number of participants with abnormal safety laboratory measurements

Time: from Baseline to Day 3

3 A Phase 1a, Randomized, Double-blinded, Placebo-Controlled, Single Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ELX-02 in Healthy Adult Volunteers

Phase 1 Single Ascending Dose Study in Normal Healthy Volunteers

NCT03292302
Conditions
  1. Genetic Disease
  2. Nonsense Mutation
Interventions
  1. Drug: Placebo
  2. Drug: ELX-02
MeSH:Genetic Diseases, Inborn

4. Presence of mitochondrial mutations making subject susceptible to aminoglycoside toxicity (A1555G, C1494T, T1095C, A827G, 1-BP DEL, 961T, C INS). 5. Subjects with any history of ear disease or surgeries, persistent dizziness or persistent tinnitus. --- A1555G ---

Primary Outcomes

Description: Incidence and characteristics of adverse events occurring following single doses of ELX-02

Measure: Adverse Events

Time: 0-10 days

Description: Cmax will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Maximum plasma concentration (Cmax)

Time: 0-10 days

Description: tmax will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Time at which Cmax occurs (tmax)

Time: 0-10 days

Description: AUC24h will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Area under the plasma concentration-time curve calculated from time of administration to time 24h (AUC24h)

Time: 0-10 days

Description: AUC48h will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Area under the plasma concentration-time curve calculated from time of administration to time 48h (AUC48h)

Time: 0-10 days

Description: AUCinf will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Area under the concentration-time curve from time 0 extrapolated to infinity (AUCinf)

Time: 0-10 days

Description: MRT will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Mean residence time (MRT)

Time: 0-10 days

Description: t1/2 will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Elimination half-life (t1/2)

Time: 0-10 days

Description: Vd/F will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Volume of distribution (Vd/F)

Time: 0-10 days

Description: CL/F will be determined for ELX-02 and an estimation of ELX-02 dose proportionality of PK parameters.

Measure: Pharmacokinetics: Clearance (CL/F)

Time: 0-10 days


HPO Nodes