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Report for Clinical Trial NCT03972943

Developed by Shray Alag, 2020.
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 Thrombocythemi Essential Thrombocythemia JAK2 Gene Mutation MPL Gene Mutation Obstructive Sleep Apnea Syndrome Polycythemia Vera
MeSH:Polycythemia Vera Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Polycythemia 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
Group Labels: 1

Cohort II: (CPAP treatment)

Name: Patient Observation

Description: Undergo observation
Type: Other
Group Labels: 1

Cohort I (observation)

Name: Questionnaire Administration

Description: Ancillary studies
Type: Other
Group Labels: 2

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: Treatment

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:
HP:0002104: Apnea
Genes 330
TRNF NDUFS7 DKK1 MKRN3-AS1 KIAA0586 CSPP1 PHOX2B OPA1 PRPH CTSD NDUFS1 USP7 CEP104 NGLY1 CPT2 COLQ GPR101 SLC2A1 PIGT VAMP1 TMEM237 PLCB4 EDN1 NDUFAF3 SKI FGFR3 MECP2 PWRN1 TRNL1 CHAT CC2D2A CISD2 RBM10 BUB1 BRAT1 SOD1 SCO2 PLAA PHOX2B MKS1 IDUA RET ND4 NADK2 SCN4A NDUFA9 GBA SLC6A9 CEP290 WFS1 TACO1 INPP5E DPH1 TCTN1 CEP290 RUNX2 CPLANE1 NDUFV1 MKS1 AMER1 TRNK KIAA0586 ASCL1 OFD1 TCF4 GDNF PIBF1 MCCC1 HERC2 TCTN2 GSN ND1 NDUFAF2 HSPD1 NEB GPHN PLCB4 PRMT7 CSPP1 TWIST1 SLC5A7 CLCN7 ASCL1 SFTPB COX2 GNE FOXRED1 AFF4 FAM149B1 DNA2 SURF1 ARCN1 TMEM67 NPHP1 CRYAB HTRA2 PEX5 NDUFS3 KIAA0556 KIF7 TMEM216 FBP1 GNE NDUFA11 ND3 PCGF2 LARP7 MYO9A LIAS AHDC1 FGFR3 TRNQ BUB1B PCCB SRPX2 RPGRIP1L ATP5F1A HSPG2 NDUFB8 CC2D2A GNAI3 TMEM138 SNORD116-1 CEP41 TBR1 IPW GNAI3 PTF1A TMEM107 PLPBP KCNQ2 INPP5E INPP5E TSPYL1 TMEM216 NFIX TRNS1 TMEM67 SLC25A20 NDUFS8 NEK1 NDUFS2 CTNNB1 FBN1 MAGEL2 COQ2 PCK1 FARS2 GABBR2 GPR101 COQ2 NGLY1 GLRA1 NDUFA13 MYO9A TRNL1 KIAA0753 RET FBP1 RNF125 PSAP TMEM237 NDUFS4 MKRN3 BRAF CHRNE PRNP LIFR ATN1 IDUA COL3A1 LAMB2 BMP2 FGFR2 SLC52A2 TECPR2 GABRG2 NDUFA2 TNFSF11 SDHA ZC4H2 NDUFAF2 NDN TCF4 NDUFAF5 B9D1 ND1 TCIRG1 CEP120 C2CD3 TRIP13 SNORD115-1 ARL13B CSPP1 NDUFA12 NACC1 BRAT1 ND6 SNX10 NALCN ECHS1 RARS2 BTD ACY1 SLC6A5 SKI NDUFV2 ND2 SLC5A7 AIP RPS6KA3 PDHA1 CPLANE1 PRPS1 GBA ND5 TSPYL1 DCTN1 MTFMT TRNW COX3 GLUL TSEN54 PLAA LIFR HMGCL DNA2 P4HTM CEP120 UNC80 PDE6D PCCA NDUFS2 SCN2A NDUFA4 TRNH D2HGDH LTBP3 COX1 SCN5A FGFR3 AHI1 NDUFA2 FGFR3 ND5 NDUFAF6 ATP6 ND4 AGRN ZNF423 TRNS2 HRAS SNAP25 COL13A1 RPGRIP1L ALPL MAGEL2 CEP57 NONO TCTN3 SNRPN SH3BP2 TECPR2 SLC25A1 KIAA0586 PWAR1 FGFR2 CCDC47 BUB3 POGZ SLC19A3 FLCN RPGRIP1L KIF5A PDHA1 NPAP1 NDUFS1 PEX13 PET100 ABCA3 TMEM237 NDUFS8 RAI1 ECHS1 TOE1 AHI1 SLC52A3 TRNV SLC18A3 SOX9 SLC18A3 CEP57 TMEM216 DST LIPT1 MECP2 CEP41 ARL3 SYT2 KAT6B GRIN2A NDUFV1 AHDC1 IDS HYLS1 SYT1 ND6 TMEM231 SYT1 SLC39A8 AHI1 SURF1 ACADSB EDN3 TRPV4 INPP5E BTD EP300 RERE ARMC9 ARMC9 CHAT COX15 PIBF1 NDUFA10 CREBBP SCN4A NEFH DPAGT1 TRNW