SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation Q16W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 4 clinical trials

Clinical Trials

1 A Phase III, Multicenter, Randomized, Double-Masked, Active Comparator-Controlled Study to Evaluate the Efficacy and Safety of Faricimab (RO6867461) in Patients With Diabetic Macular Edema (YOSEMITE)

This study will evaluate the efficacy, safety, and pharmacokinetics of faricimab administered at 8-week intervals or as specified in the protocol following treatment initiation, compared with aflibercept once every 8 weeks (Q8W), in participants with diabetic macular edema (DME).

NCT03622580 Diabetic Macular Edema Drug: Aflibercept Drug: Faricimab Drug: Sham Procedure
MeSH:Macular Edema Edema
HPO:Anasarca Cystoid macular edema Edema Macular edema

Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 1 Year. --- Q12W --- --- Q16W ---

Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 2 Years. --- Q12W --- --- Q16W ---

Primary Outcomes

Description: As measured on the Early Treatment Diabetic Retinopathy Study (ETDRS) chart at a starting distance of 4 meters.

Measure: Average Change From Baseline in Best-Corrected Visual Acuity (BCVA) at 1 Year

Time: Baseline (Day 1) and 1 year

Secondary Outcomes

Measure: Percentage of Participants with a ≥2-Step Diabetic Retinopathy Severity (DRS) Improvement From Baseline on the ETDRS Diabetic Retinopathy Severity Scale (DRSS) at 1 Year

Time: Baseline and 1 year

Measure: Change From Baseline in BCVA Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥15 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥10 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥5 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥0 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥15 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥10 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥5 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of >0 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥15 Letters or Achieving BCVA of ≥84 Letters Over Time

Time: Up to 2 years

Measure: Percentage of Participants with BCVA Snellen Equivalent of 20/40 or Better Over Time

Time: Up to 2 years

Measure: Percentage of Participants with BCVA Snellen Equivalent of 20/200 or Worse Over Time

Time: Up to 2 years

Measure: Percentage of Participants with a ≥2-Step DRS Improvement From Baseline on the ETDRS DRSS Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants with a ≥3-Step DRS Improvement From Baseline on the ETDRS DRSS Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Who Develop New Proliferative Diabetic Retinopathy Over Time

Time: Up to 2 years

Measure: Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 1 Year

Time: 1 year

Measure: Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 2 Years

Time: 2 years

Measure: Change From Baseline in Central Subfield Thickness Over Time

Time: From Baseline up to 2 years

Measure: Change From Baseline in Central Subfield Thickness at 1 Year

Time: Baseline and 1 year

Measure: Percentage of Participants with Absence of DME Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Intraretinal Fluid Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Subretinal Fluid Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Intraretinal Fluid and Subretinal Fluid Over Time

Time: Up to 2 years

Measure: Change From Baseline in National Eye Institute Visual Functioning Questionnaire-25 (NEI VFQ-25) Composite Score Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants with At Least One Ocular Adverse Event

Time: Up to 2 years

Measure: Percentage of Participants with At Least One Non-Ocular Adverse Event

Time: Up to 2 years

Measure: Plasma Concentration of Faricimab Over Time

Time: Pre-dose on Day 1; Weeks 4, 28, 52, 76, and 100; and at Early Termination Visit (up to 2 years)

Measure: Percentage of Participants with Presence of Anti-Drug Antibodies

Time: Pre-dose on Day 1; Weeks 4, 28, 52, 76, and 100; and at Early Termination Visit (up to 2 years)

2 A Phase III, Multicenter, Randomized, Double-Masked, Active Comparator-Controlled Study to Evaluate the Efficacy and Safety of Faricimab (RO6867461) in Patients With Diabetic Macular Edema (RHINE)

This study will evaluate the efficacy, safety, and pharmacokinetics of faricimab administered at 8-week intervals or as specified in the protocol following treatment initiation, compared with aflibercept once every 8 weeks (Q8W), in participants with diabetic macular edema (DME). The global enrollment phase has closed, but participants are still being recruited only at sites in China.

NCT03622593 Diabetic Macular Edema Drug: Aflibercept Drug: Faricimab Drug: Sham Procedure
MeSH:Macular Edema Edema
HPO:Anasarca Cystoid macular edema Edema Macular edema

Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 1 Year. --- Q12W --- --- Q16W ---

Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 2 Years. --- Q12W --- --- Q16W ---

Primary Outcomes

Description: As measured on the Early Treatment Diabetic Retinopathy Study (ETDRS) chart at a starting distance of 4 meters.

Measure: Average Change From Baseline in Best-Corrected Visual Acuity (BCVA) at 1 Year

Time: Baseline (Day 1) and 1 year

Secondary Outcomes

Measure: Percentage of Participants with a ≥2-Step Diabetic Retinopathy Severity (DRS) Improvement From Baseline on the ETDRS Diabetic Retinopathy Severity Scale (DRSS) at 1 Year

Time: Baseline and 1 year

Measure: Change From Baseline in BCVA Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥15 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥10 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥5 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥0 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥15 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥10 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of ≥5 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Avoiding a Loss of >0 Letters in BCVA From Baseline Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Gaining ≥15 Letters or Achieving BCVA of ≥84 Letters Over Time

Time: Up to 2 years

Measure: Percentage of Participants with BCVA Snellen Equivalent of 20/40 or Better Over Time

Time: Up to 2 years

Measure: Percentage of Participants with BCVA Snellen Equivalent of 20/200 or Worse Over Time

Time: Up to 2 years

Measure: Percentage of Participants with a ≥2-Step DRS Improvement From Baseline on the ETDRS DRSS Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants with a ≥3-Step DRS Improvement From Baseline on the ETDRS DRSS Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants Who Develop New Proliferative Diabetic Retinopathy Over Time

Time: Up to 2 years

Measure: Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 1 Year

Time: 1 year

Measure: Percentage of Participants in the Faricimab As Specified in Protocol Arm on a Q4W, Q8W, Q12W, or Q16W Treatment Interval at 2 Years

Time: 2 years

Measure: Change From Baseline in Central Subfield Thickness Over Time

Time: From Baseline up to 2 years

Measure: Change From Baseline in Central Subfield Thickness at 1 Year

Time: Baseline and 1 year

Measure: Percentage of Participants with Absence of DME Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Intraretinal Fluid Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Subretinal Fluid Over Time

Time: Up to 2 years

Measure: Percentage of Participants with Absence of Intraretinal Fluid and Subretinal Fluid Over Time

Time: Up to 2 years

Measure: Change From Baseline in National Eye Institute Visual Functioning Questionnaire-25 (NEI VFQ-25) Composite Score Over Time

Time: From Baseline up to 2 years

Measure: Percentage of Participants with At Least One Ocular Adverse Event

Time: Up to 2 years

Measure: Percentage of Participants with At Least One Non-Ocular Adverse Event

Time: Up to 2 years

Measure: Plasma Concentration of Faricimab Over Time

Time: Pre-dose on Day 1; Weeks 4, 28, 52, 76, and 100; and at Early Termination Visit (up to 2 years)

Measure: Percentage of Participants with Presence of Anti-Drug Antibodies

Time: Pre-dose on Day 1; Weeks 4, 28, 52, 76, and 100; and at Early Termination Visit (up to 2 years)

3 An Open-Label Extension Study to Evaluate the Long-Term Safety and Tolerability of Intrathecally Administered RO7234292 (RG6042) in Patients With Huntington's Disease

This study will evaluate the long-term safety and tolerability of RO7234292 (RG6042) in participants who have completed other F. Hoffmann-La Roche, Ltd.-sponsored and/or Genentech-sponsored studies in the Huntington's disease (HD) in the development program for RG6042.

NCT03842969 Huntington Disease Drug: RO7234292 (RG6042)
MeSH:Huntington Disease

Upon completion of the inclusion visit, eligible patients will receive either RO7234292 (RG6042) every 8 weeks (Q8W) or RO7234292 (RG6042) every 16 weeks (Q16W) by bolus intrathecal injection. --- Q16W ---

Primary Outcomes

Measure: Percentage of Participants with Adverse Events

Time: Up to approximately 5 years

Description: The Columbia-Suicide Severity Rating Scale (C-SSRS) is a structured tool to assess suicidal ideation and behavior. Four constructs are measured: severity of ideation, intensity of ideation, behavior, and lethality of actual suicide attempts. Binary (yes/no) data are collected for 10 categories, and composite endpoints based on the categories are followed over time to monitor patient safety.

Measure: Change From Baseline in Behavioral Findings, as Assessed by the Columbia-Suicide

Time: Baseline, Every 8 Weeks or Every 16 Weeks, and End of Treatment (up to approximately 5 years)

Description: MoCA contains a series of basic assessments, including attention and visuospatial tasks. The total score ranges from 0−30, where lower scores indicate greater impairment.

Measure: Change From Baseline in Cognition, using Montreal Cognitive Assessment (MoCA)

Time: Baseline, Every 16 Weeks, End of Treatment (up to approximately 5 years)

4 A Phase 2, Prospective, Randomized, Double-masked, Active Comparator-controlled, Multi-center Study to Investigate the Efficacy and Safety of Repeated Intravitreal Administration of KSI-301 in Subjects With Neovascular (Wet) Age-related Macular Degeneration.

This study will evaluate the efficacy, safety, durability, and pharmacokinetics of KSI-301 administered at 12, 16 and 20 weeks intervals as specified in the protocol, compared with aflibercept once every 8 weeks (Q8W), in participants with treatment-naïve neovascular (wet) age-related macular degeneration (nAMD).

NCT04049266 Wet Macular Degeneration Drug: KSI-301 Drug: Aflibercept Other: Sham Procedure
MeSH:Macular Degeneration Wet Macular Degeneration

Mean change in Best Corrected Visual Acuity (BCVA) from Day 1.. BCVA is measured using ETDRS visual acuity charts.. Proportion of subjects on a Q12W, Q16W or Q20W dosing regimen of KSI-301.. null. --- Q12W --- --- Q16W ---

Primary Outcomes

Description: BCVA is measured using ETDRS visual acuity charts.

Measure: Mean change in Best Corrected Visual Acuity (BCVA) from Day 1.

Time: Year 1

Secondary Outcomes

Measure: Proportion of subjects on a Q12W, Q16W or Q20W dosing regimen of KSI-301.

Time: Year 1

Measure: Proportion of subjects who gain ≥ 5, ≥10 and ≥15 letters from Day 1.

Time: Year 1

Measure: Proportion of subjects who lose ≥ 5, ≥10 and ≥15 letters from Day 1.

Time: Year 1

Measure: Proportion of subjects with BCVA Snellen equivalent of 20/40 or better.

Time: Year 1

Measure: Proportion of subjects with BCVA Snellen equivalent of 20/200 or worse.

Time: Year 1

Measure: Mean change in OCT central subfield retinal thickness (CST) from Day 1.

Time: Year 1

Measure: Mean change in OCT intraretinal fluid volume from Day 1.

Time: Year 1

Measure: Mean change in OCT subretinal fluid volume from Day 1.

Time: Year 1

Measure: Proportion of subjects without intraretinal fluid on OCT.

Time: Year 1

Measure: Proportion of subjects without subretinal fluid on OCT.

Time: Year 1

Measure: Mean change in CNV total lesion area on FA from baseline.

Time: Year 1

Measure: Mean chance in area of leakage on FA from baseline.

Time: Year 1

HPO Nodes

HP:0011505: Cystoid macular edema
Genes 15
ARL3 POMGNT1 PRPH2 NOD2 MFRP DHDDS RLBP1 REEP6 HLA-A RHO RDH5 RP1L1 PRPF8 PDE6G ARHGEF18
Protein Mutations 4
P200T Q12W Q16W Q24W
SNP 0
HP:0012050: Anasarca
Genes 3
PMM2 PLVAP UBR1
Protein Mutations 3
Q12W Q16W Q24W
SNP 0