SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00694161

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy

Open-label, multicenter, international, single-treatment study designed to determine TTR stabilization as well as Fx-1006A safety and tolerability, and its effects on clinical outcomes in patients with V122I or wild-type TTR amyloid cardiomyopathy. The study will be conducted in two parts. Part 1 will include a six-week dosing period during which all enrolled patients will self-administer oral Fx-1006A 20 mg soft gelatin capsules once daily for six weeks. At Week 6, blood samples will be collected from each patient to determine TTR stabilization. Patients who complete the Week 6 visit will continue taking daily oral Fx 1006A 20 mg for up to a total of 12 months during Part 2 of this study. If it is determined that a patient is not stabilized at Week 6 (based on TTR stabilization data), the patient will be discontinued from the study. Safety and clinical outcomes will be evaluated during Part 2 of this study. Two whole blood samples for pharmacodynamic assessments (TTR stabilization) and pharmacokinetic assessments (Fx-1006A concentrations as well as calculated steady-state parameters) will be collected at Baseline and Week 6. At Months 6 and 12, two whole blood samples will be collected for pharmacodynamic assessments, and four whole blood samples (two samples per time point) will be collected for pharmacokinetic assessments to be utilized in population pharmacokinetic modeling. Echocardiography, chest x-ray, cardiac MRI, and 24-hour Holter monitoring will be conducted at Baseline, and Months 6 and 12. Six-minute walk test and quality of life utilizing the Patient Global Assessment, KCCQ, and SF-36 will be assessed at Baseline, and Months 3, 6, and 12. NYHA Classification will be assessed at Baseline, Week 6, and Months 3, 6, and 12. Serum markers of troponin I and T, and NT-pro-BNP levels will be assessed at each study visit. Safety and tolerability will be assessed throughout the study. Vital signs, 12-lead ECG, blood and urine samples for clinical laboratory tests (serum chemistry, hematology, coagulation panel, and urinalysis), AEs, and concomitant medications (including diuretic usage) will be assessed at each study visit. Abbreviated physical examinations will be conducted at Baseline, Weeks 2 and 6, and Months 3 and 6, and a complete physical examination will be conducted at Month 12. Clinic visits will be conducted during Screening (Days -30 to -1) and Baseline (Day 0); procedures scheduled for the Baseline visit may be conducted over a period of one week to accommodate patient scheduling. All Baseline procedures must be completed prior to the first self-administered dose on Day 1. Day 1 will be defined as administration of the first dose of study medication, which patients will self-administer at home. During treatment, clinic visits will be conducted at Week 2 (± 2 days), Week 6 (± 1 week), Month 3 (± 1 week), Month 6 (± 2 weeks), and Month 12 (± 2 weeks). Procedures scheduled for the Month 6 and 12 visits may occur over one week during the visit window to accommodate patient scheduling. Monthly telephone contacts (± 1 week of the scheduled date) will be made during months in which no clinical site visits are scheduled (Months 4, 5, 7, 8, 9, 10, and 11) for assessment of AEs and concomitant medications. A final telephone contact to assess AEs and concomitant medication usage will be made 30 days after the last dose of study medication for each patient. Patients who discontinue from the study at any time will have a final visit performed, including all safety assessments, at the time of discontinuation. Any patient discontinuing after the Month 6 visit will also have all exploratory assessments performed.

NCT00694161 Cardiomyopathy
MeSH:Cardiomyopathies
HPO:Cardiomyopathy

1 Interventions

Name: Fx-1006A

Description: Fx-1006A 20mg soft gelatin capsules once daily (at the same time each day) for 12 months
Type: Drug
Group Labels: 1

Fx-1006A


Primary Outcomes

Description: TTR tetramer was assessed using a validated immunoturbidimetric assay. The Fraction of Initial (FOI) is the ratio of the measured TTR tetramer concentration after denaturation to the measured TTR tetramer concentration before denaturation. TTR tetramer stabilization is based on the difference between the on-treatment FOI and the baseline FOI expressed as a percentage of the baseline FOI.

Measure: Percentage of Participants With Stabilized Transthyretin (TTR Tetramer) at Week 6

Time: Week 6

Secondary Outcomes

Description: TTR tetramer was assessed using a validated immunoturbidimetric assay. The Fraction of Initial (FOI) is the ratio of the measured TTR tetramer concentration after denaturation to the measured TTR tetramer concentration before denaturation. TTR tetramer stabilization is based on the difference between the on-treatment FOI and the baseline FOI expressed as a percentage of the baseline FOI.

Measure: Percentage of Participants With Stabilized Transthyretin (TTR Tetramer) at Month 6 and 12

Time: Month 6, Month 12

Other Outcomes

Description: An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Treatment-emergent are events between first dose of study drug and up to 30 days after last dose that were absent before treatment or that worsened relative to pretreatment state.

Measure: Number of Participants With Treatment-Emergent Adverse Events (AEs)

Time: Baseline up to 30 days after the last dose

Description: An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Treatment-emergent are events between first dose of study drug and up to 30 days after last dose that were absent before treatment or that worsened relative to pretreatment state. On the basis of intensity, grade 3 was referred as severe, grade 4 as life-threatening and grade 5 as death.

Measure: Number of Participants With Greater Than or Equal to (>=) Grade 3 Treatment-Emergent AEs

Time: Baseline up to 30 days after the last dose

Description: ECHO:investigator assessed test to assess cardiac function.ECHO abnormality criteria:any/valvular abnormality,pericardial effusion,abnormal regional wall motion,inferior vena cava respiratory variation,posterior left ventricular wall/septal thickness>=13 millimeter(mm),right ventricular thickness>=7mm,ejection fraction <50%, ratio of early (E) diastolic transmitral flow and atrial(A) contraction velocity (E/A)>=2, ratio of 'E'to lateral/septal mitral annular velocity (e') (E/e'prime lateral>15, E/e'prime septal>15), E deceleration time<=150 millisecond(msec),Isovolumic relaxation time<=70msec.

Measure: Number of Participants With Clinically Significant Treatment-Emergent Echocardiography (ECHO) Findings

Time: Baseline up to Month 12

Measure: Number of Participants Discontinuing From The Study Due to Clinically Significant Clinical or Laboratory Adverse Events (AEs)

Time: Baseline up to Month 12

Description: Echocardiography was used to measure interventricular septal thickness (IVST), posterior left ventricular wall thickness (PLVWT), right ventricular wall thickness (RVWT), left atrial diameter (LAD): anterior-posterior (ant-post), medio-lateral, superior-inferior (sup-inf) and left ventricular end diastolic diameter (LVEDD).

Measure: Change From Baseline in Echocardiographic (ECHO) Parameters at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: LVM was defined as increase in the mass of left ventricle, estimated by echocardiography. Increased LVM was associated with cardiovascular morbidity and mortality.

Measure: Change From Baseline in Left Ventricular Mass (LVM) at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Left ventricular ejection fraction (LVEF) was the fraction of the end-diastolic volume (EDV) that is ejected out of left ventricle with each contraction, estimated by echocardiography. EDV is the volume of blood within a ventricle immediately before a contraction.

Measure: Change From Baseline in Left Ventricular Ejection Fraction at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Doppler echocardiography was a procedure which used ultrasound technology to examine the heart. Ratio of early (E) diastolic transmitral flow velocity and atrial (A) contraction velocity (E/A) and ratio of the early (E) diastolic transmitral flow velocity to the mitral annular velocity (e') (E/e') were estimated.

Measure: Change From Baseline in Doppler Data: E/A and E/e' Ratio at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Doppler echocardiography was a procedure which used ultrasound technology to examine the heart. The mitral deceleration time was the time taken from the maximum E wave to baseline. E wave arises due to early diastolic filling.

Measure: Change From Baseline in Doppler Data: Mitral Deceleration Time at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Tissue Doppler used doppler principles to measure the annular velocities at the lateral and septal areas of the mitral annulus. s': systolic velocity during ejection, e': early diastolic mitral annular velocity, a': late diastolic mitral annular velocity.

Measure: Change From Baseline in Tissue Doppler- Septal and Lateral Velocity at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Pericardial effusion was the presence of an abnormal amount of fluid in the pericardial cavity, as determined by echocardiography.

Measure: Change From Baseline in Pericardial Effusion at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Valvular abnormalities were those abnormalities (thickening or regurgitation) that involved one or more valves of the heart, determined by echocardiography.

Measure: Number of Participants With Change From Baseline in Valvular Abnormalities at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac Magnetic Resonance Imaging (MRI) was done to measure the thickness of left ventricular anteroseptal (LVAS) wall, left ventricular inferolateral (LVIL) wall and right ventricular end diastolic free (RVEDF) wall.

Measure: Change From Baseline in Left Ventricular Anteroseptal, Left Ventricular Inferolateral Wall Thickness and Right Ventricular End Diastolic Free Wall Thickness at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure LVM, mass of left ventricular (LV) myocardium with amyloidosis, mass of LV myocardium with fibrosis/scar and right ventricular end diastolic mass (RVEDM).

Measure: Change From Baseline in Left Ventricular Mass, Mass of Left Ventricular Myocardium With Amyloidosis, Mass of Left Ventricular Myocardium With Fibrosis/Scar and Right Ventricular End Diastolic Mass at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure left ventricle end diastolic volume (LVEDV), left ventricle end systolic volume (LVESV), left ventricle stroke volume (LVSV), right ventricle end diastolic volume (RVEDV), right ventricle end systolic volume (RVESV) and right ventricle stroke volume (RVSV).

Measure: Change From Baseline in Left Ventricle End Diastolic Volume, Left Ventricle End Systolic Volume, Left Ventricle Stroke Volume, Right Ventricle End Diastolic Volume, Right Ventricle End Systolic Volume, Right Ventricle Stroke Volume at Month 6 and 12.

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure: left ventricular ejection fraction (LVEF) was the fraction of the EDV that is ejected out of left ventricle with each contraction and right ventricular ejection fraction (RVEF) was the fraction of the EDV that is ejected out of right ventricle with each contraction. EDV is the volume of blood within a ventricle immediately before a contraction.

Measure: Change From Baseline in Left Ventricular Ejection Fraction and Right Ventricular Ejection Fraction at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure cardiac output, which was the volume of blood being pumped by the heart, in particular by the left or right ventricle in the time interval of one minute.

Measure: Change From Baseline in Left Ventricular Cardiac Output and Right Ventricular Cardiac Output at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure percentage of LV myocardial mass with amyloidosis and LV myocardial mass with fibrosis/scar. LV myocardial mass with amyloidosis or fibrosis/scar was calculated from the product of the myocardial volume and specific gravity of heart muscle, in participants with amyloidosis or fibrosis/scar, respectively.

Measure: Change From Baseline in Percentage of Left Ventricular Myocardial Mass With Amyloidosis and Left Ventricular Myocardial Mass With Fibrosis/Scar at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure interatrial septal thickness in the 4 chamber view.

Measure: Change From Baseline in 4 Chamber Interatrial Septal Thickness at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Cardiac MRI was done to measure the left and right atrial dimensions which have diagnostic and prognostic significance in cardiology, in the 4 chamber view.

Measure: Change From Baseline in 4 Chamber Left Atrial Dimension and 4 Chamber Right Atrial Dimension at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Holter monitor was a machine that recorded the heart rhythms. Holter monitoring abnormalities of atrial fibrillation/flutter (rapid, irregular heart rhythm), atrial tachycardia (rapid cardiac rate), non-sustained ventricular tachycardia (NSVT)<30 beats, sustained ventricular tachycardia (SVT) >=30 beats and sinus pause (transient interruption in the sinus rhythm) were recorded.

Measure: Number of Participants With Atrial Fibrillation/Flutter, Atrial Tachycardia, Non-Sustained Ventricular Tachycardia (NSVT) Beats), Sustained Ventricular Tachycardia (SVT), Sinus Pause at Month 6 and 12

Time: Baseline, Month 6, Month 12

Description: Holter monitor was a machine that recorded the heart rhythms. 24-hour average heart rate and maximium/minimum heart rate was recorded using Holter monitoring.

Measure: 24-Hour Average Heart Rate and Maximium/Minimum Heart Rate

Time: Baseline, Month 6, Month 12

Description: Complete heart block is the third-degree atrioventricular block in which the impulse generated in the sinoatrial node in the atrium does not propagate to the ventricles.

Measure: Number of Participants With Complete Heart Block

Time: Baseline, Month 6, Month 12

Description: Holter monitor was a machine that recorded the heart rhythms. HRV time-domain indices were summarized for root-mean-square of successive differences [RMS SD] of the R-R intervals (R-R is the interval between successive Rs in the ECG wave) between normal beats (NN), magid standard deviation (Magid SD) of normal to normal R-R intervals and Kleiger standard deviation of normal to normal R-R intervals (Kleiger SD). The term 'NN' is used in place of 'R-R' when the processed beats are normal beats.

Measure: Heart Rate Variability (HRV)- Standard Deviation (SD) Parameters

Time: Baseline, Month 6, Month 12

Description: Holter monitor was a machine that recorded the heart rhythms. The term 'NN' was used in place of 'R-R' when the processed beats are normal beats. The percentage of successive R-R intervals with greater than 50 msec difference between normal beats was derived by dividing NN50 by the total number of NN intervals (pNN50), where NN50 was the number of interval differences of successive NN intervals greater than 50 msec.

Measure: Heart Rate Variability- Percentage of Successive R-R Intervals With Greater Than 50 Msec Difference Between Normal Beats (pNN50)

Time: Baseline, Month 6, Month 12

Description: NYHA: classified as 'class I' (participants with cardiac disease but without resulting limitations of physical activity), 'class II' (participants with cardiac disease resulting in slight limitation of physical activity), 'class III' (participants with cardiac disease resulting in marked limitation of physical activity), 'class IV' (participants with cardiac disease resulting in inability to carry on any physical activity without discomfort). Participants with change from baseline were classified as 'improved' (positive change), 'no change' or 'worsened' (negative change).

Measure: Number of Participants With Change From Baseline in New York Heart Association (NYHA) Classification at Week 6, Month 3, 6 and 12

Time: Baseline, Week 6, Month 3, Month 6, Month 12

Description: Cardiothoracic ratio was defined as the transverse diameter of the heart, compared with that of the thoracic cage, used to help determine enlargement of the heart.

Measure: Cardiothoracic (CT) Ratio

Time: Baseline, Month 6, Month 12

Description: Chest x-ray was done to record the presence of increased interstitial markings (a large number of interstitial markings was indicative of abnormality in the lung) and pleural effusion, which was defined as accumulation of fluid between the layers of tissue that line the lungs and chest cavity.

Measure: Number of Participants With Increased Interstitial Markings and Pleural Effusions

Time: Baseline, Month 6, Month 12

Description: Participant's overall quality of life was measured by the PtGA. At baseline participants answered to question: "in general, how do you feel today?" - on a 5-point scale from '1' (excellent) to '5' (poor). At each follow-up visit, participant's answered to question: "How do you feel today as compared to when we talked with you at your last clinic visit for this study?" on a 7-point scale- '1' markedly improved, '2' moderately improved, '3' mildly improved, '4' unchanged, '5' mildly worsened, '6' moderately worsened, '7' markedly worsened.

Measure: Number of Participants With Change in Patient Global Assessment (PtGA) at Month 3, 6 and 12

Time: Baseline, Month 3, Month 6, Month 12

Description: KCCQ was a 23-item heart failure specific questionnaire quantified in to following 10 summary scores: physical limitation, symptom frequency, symptom severity, and symptom stability, total symptoms, quality of life, social interference, self-efficacy, overall summary and clinical summary. Total score ranged from 0 to 100, where higher scores indicated better functioning, fewer symptoms, and better disease specific quality of life. Summary scores were scaled to range from 0 to 100, with higher scores representing greater disability.

Measure: Change From Baseline in Kansas City Cardiomyopathy Questionnaire (KCCQ) Score at Month 3, 6 and 12

Time: Baseline, Month 3, Month 6, Month 12

Description: SF-36 was standardized survey evaluating 8 aspects of functional health and well being: physical and social functioning, physical and emotional role limitations, bodily pain, general health, vitality, mental health. Scores for the 8 domains range from 0-100, where higher scores were better (100=highest level of functioning) and reported as 2 summary scores; Mental Component Score (MCS) and Physical Component Score (PCS). The score for a section was an average of the individual question scores, which were scaled 0-100, where higher scores were better.

Measure: Change From Baseline in the Short Form 36 (SF-36) at Month 3, 6 and 12

Time: Baseline, Month 3, Month 6, Month 12

Description: Troponin I and troponin T were the cardiac markers. Troponin I and troponin T were part of the troponin complex, where troponin I was bound to actin in thin myofilaments and troponin T was bound to tropomyosin. Higher level of these markers was indicative of heart damage.

Measure: Change From Baseline in Troponin I and Troponin T at Week 2, 6, Month 3, 6 and 12

Time: Baseline, Week 2, Week 6, Month 3, Month 6, Month 12

Description: NT-proBNP was a cardiac marker which had the prognostic value for participants with heart failure or left ventricular dysfunction. Higher level of the marker was indicative of heart damage.

Measure: Change From Baseline in N-Terminal Prohormone Brain Natriuretic Peptide(NT-proBNP) Levels at Week 2, 6, Month 3, 6 and 12

Time: Baseline, Week 2, Week 6, Month 3, Month 6, Month 12

Description: 6MWT was used to assess the distance that a participant could walk in 6 minutes. Participants were asked to perform the test at a pace that was comfortable to them, with as many breaks as they needed. Continuous pulse oximetry was conducted during the test for safety.. The distance walked in 6 minutes was categorized as: Level 1: <300 meter, Level 2: 300-374.9 meter, Level 3: 375-449.9 meter, Level 4: >=450 meter.

Measure: Change From Baseline in 6-Minute Walk Test (6MWT) at Month 3, 6 and 12

Time: Baseline, Month 3, Month 6, Month 12

Purpose: Treatment

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 V122I

The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy. --- V122I ---

The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy Open-label, multicenter, international, single-treatment study designed to determine TTR stabilization as well as Fx-1006A safety and tolerability, and its effects on clinical outcomes in patients with V122I or wild-type TTR amyloid cardiomyopathy. --- V122I ---

The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy Open-label, multicenter, international, single-treatment study designed to determine TTR stabilization as well as Fx-1006A safety and tolerability, and its effects on clinical outcomes in patients with V122I or wild-type TTR amyloid cardiomyopathy. --- V122I --- --- V122I ---

TTR amyloid cardiomyopathy is defined as: 1. Variant TTR amyloid cardiomyopathy as defined as: V122I genotype and presence of amyloid in cardiac biopsy tissue (as determined by congo red stain, alcin blue stain, or immunohistochemical TTR analysis), or 2. Variant TTR amyloid cardiomyopathy as defined as: V122I genotype, evidence of cardiac involvement by echocardiography with left ventricle wall thickness > 12 mm and presence of amyloid in non-cardiac biopsy tissue (as determined by congo red stain, alcin blue stain, or immunohistochemical TTR analysis), or 3. Wild-type TTR amyloid cardiomyopathy as defined as: normal TTR genotype and presence of TTR amyloid deposits in cardiac biopsy tissue (as determined by congo red stain and immunohistochemical TTR analysis), or 4. Wild-type TTR amyloid cardiomyopathy as defined as: normal TTR genotype, evidence of cardiac involvement by echocardiography with left ventricle wall thickness > 12 mm and presence of TTR amyloid deposits in non-cardiac biopsy tissue (as determined by congo red stain and immunohistochemical TTR analysis). --- V122I ---

TTR amyloid cardiomyopathy is defined as: 1. Variant TTR amyloid cardiomyopathy as defined as: V122I genotype and presence of amyloid in cardiac biopsy tissue (as determined by congo red stain, alcin blue stain, or immunohistochemical TTR analysis), or 2. Variant TTR amyloid cardiomyopathy as defined as: V122I genotype, evidence of cardiac involvement by echocardiography with left ventricle wall thickness > 12 mm and presence of amyloid in non-cardiac biopsy tissue (as determined by congo red stain, alcin blue stain, or immunohistochemical TTR analysis), or 3. Wild-type TTR amyloid cardiomyopathy as defined as: normal TTR genotype and presence of TTR amyloid deposits in cardiac biopsy tissue (as determined by congo red stain and immunohistochemical TTR analysis), or 4. Wild-type TTR amyloid cardiomyopathy as defined as: normal TTR genotype, evidence of cardiac involvement by echocardiography with left ventricle wall thickness > 12 mm and presence of TTR amyloid deposits in non-cardiac biopsy tissue (as determined by congo red stain and immunohistochemical TTR analysis). --- V122I --- --- V122I ---

2. Patient has a TTR mutation other than V122I. --- V122I ---



HPO Nodes


HPO:
HP:0001638: Cardiomyopathy
Genes 716
NDUFS7 PEX5 PDGFRA LMNA TCAP TPM1 EPG5 SGCB DOLK GPC4 PCCB XK MLX CPT2 GPR101 VCL TAZ MAP2K2 YARS2 TWNK RRM2B SDHA MC2R TMPO BRAF PRKAG2 BSCL2 AHCY TNNC1 NEU1 XRCC4 IDUA VPS33A GABRD TRNL1 CAP2 MYO18B IDH2 NDUFA10 GYG1 VCL LAMC2 NDUFV2 SLC25A4 TNNI3K RNU4ATAC CHKB DES MYH7 JUP BAG3 PEX10 MYBPC3 HADHA TRNL1 CRYAB SLC2A10 LMNA RAF1 TMEM43 MYOT HADHA WFS1 MAP2K1 TACO1 HADHA MYH7 PPA2 ACTN2 HSD17B10 GPC4 PEX19 NDUFB11 MYLK2 COX10 SARDH NAGA TRNK MRPL3 ATP6 TMEM70 GMPPB ND1 DES MAP2K2 KLF1 POMT2 NDUFS1 CAV3 KRAS DPM3 HFE COX2 FASTKD2 PTPN11 ITPA ANK1 CDKN1C FKTN ACTA1 TK2 RYR1 BSCL2 RNASEH2A ATP5F1D SHOC2 SDHA NDUFS3 FHL1 ANO5 HNRNPA2B1 PARS2 PPCS NDUFA11 ND3 XRCC2 FOS TPM3 RBCK1 TNNT2 ELAC2 TRNQ ACTA1 COX6B1 NDUFB11 COL7A1 HRAS PALB2 NDUFB8 COX7B ABCC9 COX8A ND3 TGFB3 ACADS TMEM126B DSP LDB3 FANCE DES RMND1 HADHA PSEN2 NDUFS2 TTR NDUFS2 TRNS1 H19 ARSB LAMP2 SLC25A20 PTPN11 RAD51 ALMS1 RAF1 NDUFS2 TNNT2 FKTN TAZ POLG2 COQ4 NRAS RAF1 HNRNPA1 RAB3GAP2 SGCB ACTC1 SYNE1 MYH7 NF1 HACD1 MYL3 AGK POLG COX7B PEX7 FANCD2 SYNE2 SLC25A4 KCNJ8 GLA ANKRD11 FHL1 SYNE2 DSP TERT USP9X TPM2 LAMA3 NDUFA2 SDHA SDHB MRPS22 ND1 NAXD DMD FXN SPEG GNPTAB SHOC2 IDUA FKRP NDUFA12 NDUFAF4 BMP2 ND6 NNT COG7 ECHS1 GATAD1 FHL2 NDUFV2 LDB3 TOP3A ND2 SLC25A4 POMT1 ERCC4 HADHB PNPLA2 CSRP3 LAMA2 DLD MTFMT SUFU SCO2 VPS13A NEBL POMK FLNC RNF113A HMGCL MYH6 AGK TSFM MAP2K1 TNNI3 BRCA1 TRNS1 GATA4 MRPL44 FIG4 LAMA4 RFWD3 PCCA NDUFS2 PRKAG2 COX1 DTNA HPS1 DMD TNNT2 BRAF LMNA COL7A1 FXN LMNA NBAS TXNRD2 ND5 NDUFAF6 PEX14 ACADVL EMD ND4 WARS2 ANKS6 TMEM126A TREX1 GPC3 FKRP PKP2 ATAD3A NUP107 MEN1 LMNA CAV1 HADHB HGSNAT MMUT ELN PEX26 TGFB1 PMM2 FLNC H19-ICR NDUFA11 TWNK LDB3 PLN SLC19A3 SCN5A RAF1 FOXRED1 NEXN NDUFAF2 FANCC TPI1 HJV PET100 MAD2L2 SLC25A3 KBTBD13 ERCC2 NDUFB9 MMUT DOLK PPARG FOXRED1 NDUFS7 TRNV PLN PCCA TAPT1 COX14 SCN5A CSRP3 ACAD9 VCP KRAS RFC2 ERBB3 GTPBP3 ERCC3 GSN NDUFAF1 DSC2 LAMP2 TRNN NDUFV1 LMNA TXNRD2 PTPN11 MYL2 ND6 TRNT PET100 CPT1A FKTN ABCC9 XYLT1 HLA-B XYLT2 PEX3 COX15 DSG2 NDUFA10 DSG2 DPM3 SDHD TRNW TRNF JUP TPM2 OPA1 MICOS13 DNAJC19 NDUFA6 NDUFS1 PNPLA2 NAGA PHYH DNAJC19 PMM2 LMNA NDUFAF4 ACTA1 LAMA4 PRDM16 ND2 EYA4 MLYCD PPCS PEX6 PIGT CRYAB GNE NDUFAF1 MYBPC3 ALG1 SLC30A10 SKI NDUFAF3 TAZ TTN KCNAB2 ACADVL INSR SLC25A3 CPT2 BRAF AGPAT2 TNNI3 ENPP1 WFS1 CISD2 MYH7 COA8 SELENON POMT1 LIMK1 MRAP PRKAG2 SCO2 TBL2 PEX2 RIT1 MYSM1 UBE2T GJA5 USP8 ND4 LAMB3 TRNT1 TACO1 DMD RNASEH2B ACTN2 SPTB NDUFA9 TWNK CSRP3 FLAD1 AARS2 ATPAF2 EPG5 MTO1 SPTA1 FBXL4 RERE NDUFS4 SGCD TNNC1 LDB3 MAP3K20 JUP ABCC6 CPT2 GATA5 FAH NDUFS3 ACAD9 COX20 VCL ACAD8 GSN NDUFAF2 FANCL SDHA FKTN TWNK RRM2B GMPPB IFIH1 SOS1 SLC40A1 MYH7 FHL1 FOXRED1 PEX7 COX15 SURF1 TTN SELENON TRIP4 GMPPB DCAF8 KCNH1 NEK8 NDUFS6 TTN ACADL HADH NDUFAF3 POLG CLIP2 NDUFV1 BRIP1 SLC19A2 DSG2 TNNT2 KRAS BAG3 JUP GYS1 TNNI3 POMGNT1 IGF2 FANCF ANKRD1 COA6 ADCY5 TMEM126B LIAS EYA4 PCCB ACTC1 GNS ACTA1 HAMP C1QBP DSP NDUFB11 ATAD3A ADCY5 BRAF ADAR GTF2E2 TIMMDC1 STAR FKRP CRYAB LMNA TPM2 CRYAB MYOZ2 NDUFAF5 SGSH ACAD8 TRNK RNASEH1 AGL TTR IDUA NDUFS8 CPT2 SLC25A20 NEXN ABHD5 RMRP COA5 KCNQ1 PEX7 ITGA7 COQ2 NDUFS8 ND1 FANCA NDUFA13 TRNL1 POMT1 NDUFS4 MYH7 SLC4A1 TMEM43 GTF2H5 FANCM TARS1 MYH6 CLN3 POLG DLD AHCY TPM3 GBE1 SDHAF1 PSEN1 MYL2 CDH23 BAG3 RAF1 NDUFB10 NDUFAF5 SGCA KAT6B MYH6 POLG UBR1 PEX13 MPLKIP TNNI3 PSEN1 MYBPC3 MGME1 NEB PEX11B SDHA TPM1 RBM20 LTBP4 ALMS1 COA8 HBB BBS2 POMT2 AIP PDHA1 MIB1 DSP ALG1 BRCA2 CENPE NDUFS4 ND5 HAMP NDUFB11 MYPN TTPA POMT1 RAD51C MGME1 GTF2I EPB42 TRNW PEX1 PPP1CB COX3 MYPN RNU4ATAC BCS1L FTO RNASEH2C MYPN LMNA TFR2 GUSB TMEM70 NDUFA4 SLX4 TRNH ATP6V1A D2HGDH NEXN GATAD1 PSEN2 NUP107 HFE GLB1 SCO1 NDUFA2 ATP6 HCCS TNNC1 NEB NAGLU AIP TRNS2 HRAS PIGT SGCD FANCG FANCI TTN SAMHD1 NUBPL PGM1 RBM20 ABCC9 MMP1 TANGO2 MRPS14 KCNQ1OT1 CAVIN1 PLN PPARG FIG4 LMNA MIPEP ACTC1 BAZ1B FHL1 DES MYH7 IL12B LMNA PRDM16 NDUFV2 ABCC6 SLC22A5 RYR2 ATP5F1E FANCB NDUFS8 MAP2K1 SDHAF1 GPC3 HADH HJV NPPA TPM3 KLHL41 MYPN AIP BOLA3 TRNE GTPBP3 DMD HCCS TCAP LIPT1 VAC14 SLC25A4 LIMS2 PEX16 DSP NDUFB3 JPH2 VPS33A SURF1 CLPB TNNI3 MYOT TAF1A PRDM16 TPM1 MYH6 POLG NDUFA1 GTF2IRD1 PEX12 SDHD DMD AGPAT2 TRNK SMC1A PHYH