SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02796274

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)

The purpose of this survey is to collect visual acuity data from patients with LHON in order to establish the clinical course (natural history) and visual acuity outcomes in patients with a genetically confirmed diagnosis of LHON. In addition, this survey will generate data that will serve as comparator for the open-label study SNT-IV-006.

NCT02796274 Leber's Hereditary Optic Neuropathy (LHON)
MeSH: Optic Nerve Diseases Optic Neuritis Optic Atrophy, Hereditary, Leber
HPO: Leber optic atrophy Optic neuritis Retrobulbar optic neuritis


Primary Outcomes

Description: In eyes with a VA assessment made ≤1 year after the onset of symptoms: Proportion of eyes with clinically relevant recovery of VA from Baseline or in which Baseline VA better than 1.0 logarithm of the minimal angle of resolution (logMAR) was maintained at 12 months (primary time point)

Measure: Proportion of eyes with clinically relevant recovery or clinically relevant stabilization of VA

Time: 12 months

Time Perspective: Retrospective

Case-Only


There are 3 SNPs

SNPs


1 G11778A

Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A ---

glaucoma, diabetic retinopathy, AIDS related visual impairment, cataract, macular degeneration, etc.) or any active ocular disorder (uveitis, infections, inflammatory retinal disease, thyroid eye disease, etc.) during the data collection period Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A ---


2 G3460A

Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A --- --- G3460A ---

glaucoma, diabetic retinopathy, AIDS related visual impairment, cataract, macular degeneration, etc.) or any active ocular disorder (uveitis, infections, inflammatory retinal disease, thyroid eye disease, etc.) during the data collection period Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A --- --- G3460A ---


3 T14484C

Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A --- --- G3460A --- --- T14484C ---

glaucoma, diabetic retinopathy, AIDS related visual impairment, cataract, macular degeneration, etc.) or any active ocular disorder (uveitis, infections, inflammatory retinal disease, thyroid eye disease, etc.) during the data collection period Inclusion Criteria: 1. age ≥ 12 years 2. the onset of symptoms is dated after 1999 and is well documented (at least month of onset of symptoms is known for each eye) 3. at least two VA assessments are available within 5 years of onset of symptoms and prior to idebenone use 4. have a genetic diagnosis for LHON for one of the following mitochondrial DNA (mtDNA) mutations: G11778A, G3460A, T14484C Exclusion Criteria: 1. any participation in an interventional clinical trial after the onset of symptoms 2. any other cause of visual impairment (e.g. --- G11778A --- --- G3460A --- --- T14484C ---



HPO Nodes


HPO:
Leber optic atrophy
Genes 11
COX3 CYTB ND1 ND2 TBC1D24 ND4 ND4L ATP6 ND5 ND6 CPLX1
Optic neuritis
Genes 19
HLA-B IL10 FAS ERAP1 IL12A IL12A-AS1 TK2 KLRC4 CCR1 UBAC2 C4A MEFV IL23R NLRC4 POLG NLRP3 STAT4 TLR4 NOD2
Retrobulbar optic neuritis
Genes 17
HLA-B IL10 FAS ERAP1 IL12A IL12A-AS1 KLRC4 CCR1 UBAC2 C4A MEFV IL23R NLRC4 NLRP3 STAT4 TLR4 NOD2