SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03972943

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Modulation of Morbidity and Disease Progression in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Patients With Obstructive Sleep Apnea (OSA) by CPAP

This early phase I trial studies how well the use of a continuous positive airway pressure (CPAP) machine works in treating obstructive sleep apnea in patients with polycythemia vera or essential thrombocythemia. Obstructive sleep apnea is a condition where a person stops breathing during sleep, and is estimated to affect 30 to 50 percent of patients with polycythemia vera or essential thrombocythemia. A patient with obstructive sleep apnea typically snores, has disrupted sleep, experiences morning headaches, and has daytime sleepiness. Patients diagnosed with obstructive sleep apnea are typically treated with a device called CPAP. The CPAP provides pressurized air that keeps upper air passages open during sleep and may prevent them from narrowing or collapsing as occurs during snoring or sleep apnea.

NCT03972943 CALR Gene Mutation Essential Thrombocythemia JAK2 Gene Mutation MPL Gene Mutation Obstructive Sleep Apnea Syndrome Polycythemia Vera
MeSH: Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Polycythemia Polycythemia Vera Thrombocytosis Thrombocythemia, Essential
HPO: Apnea Obstructive sleep apnea Polycythemia Sleep apnea Thrombocytosis

3 Interventions

Name: Continuous Positive Airway Pressure

Description: Receive CPAP treatment

Type: Procedure

Cohort II: (CPAP treatment)

Name: Patient Observation

Description: Undergo observation

Type: Other

Cohort I (observation)

Name: Questionnaire Administration

Description: Ancillary studies

Type: Other

Cohort I (observation) Cohort II: (CPAP treatment)


Primary Outcomes

Description: Will be tested at the two-sided 0.025 significance level to provide overall control of the type I error for the co-primary endpoints at 0.05. The endpoints will be summarized by mean, median, range, standard deviation, interquartile range and boxplots. Scatterplots will be used to show bivariate associations. An assessment of normality will be made prior to statistical testing. Paired t tests will be used to analyze endpoints that are sufficiently Gaussian in distribution. Paired Wilcoxon tests will be used to analyze variables that are highly skewed or otherwise non-Gaussian in distribution.

Measure: Change in Myeloproliferative Neoplasm Symptom Assessment Form - Total Symptom Score (MPN-SAF TSS)

Time: Baseline, after 3 months, and after 6 months on trial

Description: Will be tested at the two-sided 0.025 significance level to provide overall control of the type I error for the co-primary endpoints at 0.05. The endpoints will be summarized by mean, median, range, standard deviation, interquartile range and boxplots. Scatterplots will be used to show bivariate associations. An assessment of normality will be made prior to statistical testing. Paired t tests will be used to analyze endpoints that are sufficiently Gaussian in distribution. Paired Wilcoxon tests will be used to analyze variables that are highly skewed or otherwise non-Gaussian in distribution.

Measure: Change in JAK2 V617F allele burden

Time: Baseline, after 3 months, and after 6 months on trial

Other Outcomes

Description: Assessed by Snoring, Tiredness, Observed Apnea, Blood Pressure, Body Mass Index, Age, Neck Circumference and Gender (STOP-BANG) questionnaire. The proportion of patients whose results indicate a diagnosis of OSA will be calculated. All patients with a diagnosis of OSA, regardless of whether they are enrolled to the treatment component of the study, will be counted towards the assessment of prevalence. An assessment of normality will be made prior to statistical testing. Paired t tests will be used to analyze endpoints that are sufficiently Gaussian in distribution. Paired Wilcoxon tests will be used to analyze variables that are highly skewed or otherwise non-Gaussian in distribution.

Measure: Proportion of patients with a diagnosis of obstructive sleep apnea (OSA)

Time: During the OSA screening

Description: The endpoints will be summarized by mean, median, range, standard deviation, interquartile range and boxplots. Scatterplots will be used to show bivariate associations. An assessment of normality will be made prior to statistical testing. Paired t tests will be used to analyze endpoints that are sufficiently Gaussian in distribution. Paired Wilcoxon tests will be used to analyze variables that are highly skewed or otherwise non-Gaussian in distribution.

Measure: Leucocytes, platelets, red cell counts, and tumor necrosis factor (TNF) analysis

Time: Baseline, after 3 months, and after 6 months on trial

Description: Will be measured in blood samples taken from all patients. OSA-related adverse events reported in the Treatment Cohort at these timepoints will be correlated with these marker levels. Pearson or Spearman correlation will be used to assess correlation between thrombo-inflammatory markers and oximetric abnormalities.

Measure: Thrombotic and inflammatory marker levels for all patients

Time: Baseline, after 3 months, and after 6 months on trial

Purpose: Supportive Care

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 V617F

Paired Wilcoxon tests will be used to analyze variables that are highly skewed or otherwise non-Gaussian in distribution.. Change in JAK2 V617F allele burden. --- V617F ---



HPO Nodes


HPO:
Apnea
Genes 227
MKRN3 CEP104 GPHN TACO1 SNORD115-1 SOX9 TMEM67 TCTN3 ABCA3 AHI1 NDUFS7 AMER1 PDE6D PSAP ACADSB TMEM237 PDHA1 MYO9A PET100 ZNF423 NADK2 RPS6KA3 KIAA0586 TMEM216 SLC5A7 GBA IPW PWRN1 TCIRG1 PEX13 CHAT HMGCL NDN NDUFA2 NDUFA4 TSPYL1 ACY1 GPR101 NEB NDUFA9 NDUFA10 ZC4H2 COQ2 COLQ TRIP13 NDUFB8 GDNF MECP2 AHDC1 NDUFS1 NDUFS2 NDUFS3 SNORD116-1 NDUFV1 NDUFS4 MKS1 NDUFS8 CHRNE NDUFV2 KIAA0753 TWIST1 SLC52A3 BMP2 NEK1 FBN1 DST FBP1 CEP120 PLAA RNF125 NDUFA12 BRAF CLCN7 TECPR2 CCDC47 BTD NFIX SURF1 GLRA1 SCN2A SCN4A BUB1 VAMP1 BUB1B ARL13B NPAP1 SNX10 GLUL HRAS PEX5 HYLS1 CC2D2A KCNQ2 SYT1 RARS2 KIAA0556 PLCB4 FGFR3 GNAI3 FGFR2 PWAR1 HERC2 SLC52A2 TMEM231 PIBF1 PHOX2B CPLANE1 DNA2 BRAT1 D2HGDH TCTN1 SDHA ALPL COL3A1 HSPD1 NPHP1 DPAGT1 COL5A1 LIAS HSPG2 SCO2 TCF4 SLC25A20 FOXRED1 MAGEL2 COL13A1 RPGRIP1L NDUFAF5 OFD1 GNE HTRA2 NDUFAF2 CISD2 SFTPB PTF1A WFS1 INPP5E SH3BP2 CEP290 NDUFAF3 SLC19A3 TMEM138 LAMB2 COX15 ARMC9 SYT2 AIP TMEM107 RET RUNX2 IDS CPT2 GABBR2 IDUA SKI ECHS1 CREBBP OPA1 SLC2A1 EDN1 TOE1 ARCN1 EDN3 NDUFA11 KIF7 MKRN3-AS1 MTFMT CRYAB NDUFA13 SLC6A9 LIFR LIPT1 ARL3 TNFSF11 ATP6 DKK1 COX1 COX2 COX3 FARS2 SLC18A3 ASCL1 SLC25A1 ND1 ND2 ND3 ND4 ND5 ND6 SLC6A5 CEP41 B9D1 FLCN PLPBP TRPV4 TRNF NDUFAF6 TRNH LTBP3 TRNK TRNL1 NGLY1 SNAP25 CTNNB1 TBR1 TRNQ TRNS1 TRNS2 BUB3 TRNV TRNW KAT6B CTSD CEP57 PCCA PCCB CSPP1 AGRN TNXB SNRPN EP300 PCK1 ATP5F1A PRNP RAI1 SOD1 TCTN2
Obstructive sleep apnea
Genes 28
HRAS SLC5A7 BMP2 TRPV4 CHAT PLCB4 FGFR3 GNAI3 SYT2 SNAP25 COL13A1 IDS IDUA SKI DNA2 MYO9A CREBBP AGRN CCDC47 SLC18A3 AHDC1 NFIX SLC25A1 EP300 EDN1 ARCN1 SH3BP2 VAMP1
Polycythemia
Genes 15
PKLR SH2B3 VHL JAK2 ENG EPO EPOR SLC30A10 EPAS1 EGLN1 BPGM ACVRL1 CYB5R3 FH GATA1
Sleep apnea
Genes 70
COL3A1 MKRN3 SNORD115-1 COL5A1 BMP2 TCF4 MAGEL2 COL13A1 DKK1 BRAF GNE MYO9A CCDC47 SLC18A3 ASCL1 NFIX SLC25A1 NADK2 SH3BP2 RPS6KA3 VAMP1 NPAP1 HRAS SLC5A7 IPW PWRN1 FLCN LAMB2 SYT1 TRPV4 CHAT NDN PLCB4 FGFR3 GNAI3 LTBP3 FGFR2 SYT2 NGLY1 SNAP25 AIP PWAR1 CTNNB1 RET TSPYL1 HERC2 RUNX2 SLC52A2 GPR101 IDS PHOX2B IDUA SKI DNA2 COQ2 COLQ CEP57 CREBBP AGRN AHDC1 SNRPN EP300 EDN1 SNORD116-1 ARCN1 RAI1 SOD1 TWIST1 MKRN3-AS1 SLC52A3
Thrombocytosis
Genes 25
MPL IFNGR1 CD55 JAK2 TET2 ELANE RPS19 RPSA HMGCL TMEM173 ABL1 THPO RUNX1 ZMPSTE24 LMNA SH2B3 HBB BCR ACAT1 ADA2 MTHFD1 CALR TTC37 TBC1D24 PMM2