NINDS Neuromuscular Diseases Common Data Elements ...



The following are the recommendations of the NMD CDE Demographics, Medical History, and Lab Tests Subgroup. The CDE recommendations have been divided into separate categories and are presented in different tables as shown below:Table 1 – CBC with DifferentialTable 2 – Chemistries Table 3 – CSFTable 4 – CSF CultureTable 5 – Blood TestsTable 6 – Blood Gas TestsTable 7 – UrinalysisTable 8 – Scalp ElectroencephalogramTable 9 – Immune Cell SubsetsThe list should be used in conjunction with the Laboratory Tests and Tracking Case Report Form (CRF). Table 1 CBC with DifferentialCDEGeneral CommentsPurposeClassificationAbsolute BasophilsMeasured in %SafetySupplemental Absolute EosinophilsMeasured in %SafetySupplemental Absolute LymphocytesMeasured in %SafetySupplementalAbsolute MonocytesMeasured in %SafetySupplemental Absolute NeutrophilsMeasured in %SafetySupplementalBasophilsMeasured in cells per microliter or %SafetySupplementalBlastsMeasured in cells per microliter or %SafetySupplementalEosinophilsMeasured in cells per microliter or %SafetySupplementalHematocrit (HCT)Measured in cells/mcLSafetySupplementalHemoglobin (HB)Measured in cells/mcLSafetySupplementalHemoglobin electrophoresisHb A, Hb A2, Hb F, Hb S, Hb C - measured in %SafetySupplementalLymphocytesMeasured in platelets per microliterSafetySupplementalMacrophagesMeasured in cells per microliter or %SafetySupplementalMean corpuscular hemoglobin (MCH)Measured in gm/dLSafetySupplementalMean corpuscular hemoglobin concentration (MCHC)Measured in %SafetySupplemental Mean corpuscular volume (MCV)Measured in femtoliter (fL)SafetySupplementalMean platelet volume (MPV)Measured in gm/dLSafetySupplementalMetamylocytesMeasured in cells per microliter or %SafetySupplementalMonocytesMeasured in cells per microliter or %SafetySupplementalMyelocytesMeasured in cells per microliter or %SafetySupplementalNeutrophilsMeasured in femtoliter (fL)SafetySupplementalPlatelet countMeasured as a countSafetySupplementalPromyelocytesMeasured in cells per microliter or %SafetySupplementalRBC MorphologyMeasured in cells per microliter or %SafetySupplementalRed Blood Cell (RBC) CountMeasured in cells/mcL; for drug trialsSafetySupplementalRed blood cell distribution width (RDW)Measured in %SafetySupplementalStab cells/Band cells/Band neutrophilsMeasured in cells per microliter or %SafetySupplementalWBC MorphologyMeasured in cells per microliter or %SafetySupplementalWhite Blood Cell (WBC) CountMeasured in cells/mcL; for drug trialsSafetySupplemental Table 2 ChemistriesCDEGeneral CommentsPurposeClassificationAlanine transaminase (ALT)Measured in U/LSafetySupplementalAlbuminMeasured in g/dLSafetySupplementalAlkaline phosphatase (ALP)Measured in IU/LSafetySupplementalAmylaseMeasured in U/LSafetySupplementalAnion gapRatio measured in mEq/LSafetySupplementalAspartate transaminase (AST)Measured in IU/LSafetySupplementalBicarbonateMeasured in mmol/L (bicarbonate)SafetySupplementalBilirubin, direct (conjugated)Measured in mg/dLSafetySupplementalBilirubin, totalMeasured in mg/dLSafetySupplementalBlood urea nitrogen (BUN)Measured in mg/dLSafetySupplementalCalciumMeasured in mg/dLSafetySupplementalCarbon dioxideMeasured in mEq/LSafetySupplementalChlorideMeasured in mEq/LSafetySupplementalCreatine kinaseMeasured in IU/LDiagnosis/OutcomeSupplementalFerritinMeasured in ng/mLSafetySupplementalGamma glutamyl transferase (GGT)Measured in IU/LDiagnosisSupplementalGlucose, fastingMeasured in mg/dLSafetySupplementalGlucose, randomMeasured in mg/dLSafetySupplementalIonized CalciumMeasured in mg/dLSafetySupplementalIronMeasured in mcg/dLSafetySupplementalLactateMeasured in IU/LDiagnosis/ SafetySupplementalLactate dehydrogenase (LDH)Measured in IU/LSafetySupplementalLipaseMeasured in IU/LSafetySupplementalMagnesiumMeasured in mg/dLDiagnosisSupplementalPhosphateMeasured in mg/dLSafetySupplementalPotassiumMeasured in mEq/LSafety/Diagnosis/OutcomeSupplementalPre-AlbuminMeasured in g/dLSafetySupplementalSerum creatinineMeasured in mg/dLSafetySupplementalSodiumMeasured in mEq/LSafetySupplementalTotal Iron Binding CapacityMeasured in mcg/dLSafetySupplementalTotal ProteinMeasured in g/dLSafetySupplementalUrateMeasured in μmol/LSafetySupplementalUrea-NMeasured in mmol/LSafetySupplementalVitamin DMeasured in ng/mLSafetySupplemental Table 3 CSFCDEGeneral CommentsPurposeClassificationAlbumin, CSFMeasured in mg/dL. Major CSF protein component. Originates from blood.Diagnosis/ SafetySupplementalAlbumin indexMeasured in mg/dL. CSF to serum albumin ratio, x100. Reflects BBB permeability.Diagnosis/ SafetySupplementalCell count, CSFMeasured in cells/uL. WBC components. Predominantly mononuclears (lymphocytes, monocytes) but can also include neutrophils, eosinophils, plasma cells and other cells.Diagnosis/ SafetySupplementalCSF lactateMeasured in mmol/L. CSF lactic acid level. Increased with tissue acidosis, anaerobic metabolism.DiagnosisSupplementalCSF myelin basic protein (MBP)?Quantitative measure of detectable MBP like material in CSF.DiagnosisSupplementalCSF PCR for viruses?Virus nucleic acid (DNA or RNA) detection in CSF.OutcomeSupplementalCytopathology, CSF?Specialized technique to collect CSF cells with preserved morphology; used to detect malignant cells.Diagnosis/ SafetySupplementalDifferential, CSFMeasured in cells/uL.Diagnosis/SafetySupplementalElectrophoresis, Protein, CSFMeasured in mg/dL. Proteins are separated by electrophoresis to identify different fractions.?SupplementalGlucose, CSFMeasured in mg/dL. Measures glucose level in CSF; dependent on blood level (normally 60 to 80% of blood level)OutcomeSupplementalIgG, CSFMeasured in mg/dL. Quantitative IgG level in CSF.Diagnosis/ SafetySupplementalIgG Index, CSFMeasured in mg/dL. Measures intrathecal IgG production. Derived from ratio of CSF IgG to CSF albumin compared to serum IgG to serum albumin ratio (quantitative abnormality).Diagnosis/ SafetySupplementalLyme Disease Ab, CSFPositive; Negative. Immunoglobulin reactivity to B Burgdorferi. Measured by ELISA and/or Western blot.Diagnosis/ SafetySupplementalProtein, CSFMeasured in mg/dL. Measures total protein level in CSF predominantly albumin; reflects serum proteins with trace CNS components and intrathecal modified components.OutcomeSupplemental Oligoclonal Banding, CSFPositive; Negative. Two or more discrete IgG electrophoretic bands in CSF not in serum. Reflects restricted intrathecal IgG production (qualitative abnormality).OutcomeSupplementalVDRL, CSFPositive; Negative. Nonspecific serologic test for syphilis; Venereal Disease Research Laboratory test is used to screen CSF for reagin antibodies diagnostic for neurosyphyilis.Diagnosis/ SafetySupplementalTable 4 CSF CultureCDEGeneral CommentsPurposeClassificationBacterial, Fungal cultureCryptococcus neoformans antigen; Mycobacteria culture. Culture of CSF to identify?presence of a bacterial or fungal pathogen.SafetySupplementalTable 5 Blood TestsCDEGeneral CommentsClassification5, 10 Methylene Tetra Hydrofolate ReductaseResults reported as positive, negative or not done. Measure of enzyme which metabolizes homocysteine.Supplemental25-OH vitamin D3Results reported as normal, high, or low; measured in ng/mLSupplementalActivated partial thromboplastin time/partial thromboplastin time (aPTT/ PTT)Performance indicators which measure the efficacy of?coagulation pathways; measured in seconds.SupplementalAmmoniaResults reported as positive, negative or not done. Quantitative ammonia level.SupplementalAnti-Cardiolipin Antibody, IgG, IgMResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-ds DNA AntibodyResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-ENA/ ANA ScreenResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-Epstein-Barr VCA IgGResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HAV HepatitisResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HCA HepatitisResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HCB HepatitisResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HCV HepatitisResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HIV 1/2 AntibodyResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-HLTV-I/II antibodyResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-JCResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-mycoplasma AbResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-nuclear AntibodyResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-SSAResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-SSBResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-Thyroglobulin ABResults reported as positive, negative or not done; measured in U/mLSupplementalAnti-VZVResults reported as positive, negative or not done; measured in U/mLSupplementalCeruloplasminMeasured in mg/dLSupplementalCholesterol - HDL***Measured in mg/dL (U.S.) or mmol/L (outside U.S.)SupplementalCholesterol - LDL***Measured in mg/dL (U.S.) or mmol/L (outside U.S.)SupplementalCholesterol - triglyceridesMeasured in mg/dL (U.S.) or mmol/L (outside U.S.)SupplementalCholesterol - VLDLMeasured in mg/dL (U.S.) or mmol/L (outside U.S.)SupplementalCholesterol, totalMeasured in mg/dL (U.S.) or mmol/L (outside U.S.)SupplementalClassical AntiNeutrophil Cytoplasmic Antibodies Results reported as positive, negative or not doneSupplementalC-reactive protein (CRP)Measured in mg/LSupplementalCreatine Kinase - Myocardial BandsMeasured in ng/mLSupplementalCreatinine ClearanceMeasured in mL/minSupplementalD-dimerResults reported as positive, negative or not doneSupplementalEpstein-Barr virus (EBV) panelResults reported as positive, negative or not doneSupplementalErythrocyte Sedimentation RateMeasured in mm/hrSupplementalFibrinogenMeasured in mg/dLSupplementalFolate, serum levelMeasured in ng/mLSupplementalGlomerular Filtration Rate (eGFR)Sample ranges: estimated creatinine clearance – normal 90+; mild 60-89; moderate 30-59; <15ml/min = kidney failure; measured in mL/min; required if study uses MRI with contrastSupplementalGlycosylated hemoglobin (HbA1c)Results indicate "average" blood sugar over 6-12 week time; sample normal is 4%-6%; measured in %SupplementalGaINAc-GD1a AntibodyPositive results may indicate severe axonal GBS or AMANSupplementalGD1a AntibodyPositive results may indicate severe axonal GBS or AMANSupplementalGD1b AntibodyPositive results may indicate varied sensory or sensorimotor polyneuropathiesSupplementalGM1 AntibodyPositive results may indicate multifocal motor neuropathy or acute motor neuropathies including GBSSupplementalGQ1b AntibodyPositive results may indicate Miller Fisher syndrome, acute ataxia and opthalmoplegia or Bickerstaff encephalitisSupplementalGT1a AntibodyDiagnostic antibody generated to specific gangliosideSupplementalHigh sensitivity C Reactive ProteinAcute phase reactant elevated with inflammation; non-specific; not clear, usually is <10.0; measured in mg/LSupplementalHIVAntibodies to HIV-1 and HIV-2, usually by ELISA; results reported as positive, negative or not done; positive result should be confirmed by Western BlotSupplementalHomocysteineElevated levels associated with B12, folic acid, and pyridoxine deficiencies; sample elevated level is > 10.4 μmol/L, or> 140 μg/dl; measured in μmol/L or ug/dLSupplementalHuman T-cell lymphotropic virus type 1 (HTLV-1)Antibodies to retrovirus HTLV-1, typically screen with ELISA, confirmation with Western blot positive, negative, sometimes provides titersSupplementalHuman T-cell lymphotropic virus type 2 (HTLV-2)Antibodies to retrovirus HTLV-2,positive, negative, sometimes provides titersSupplementalInsulin-like Growth Factor-1 (IGF-1)IGF-1 levels can be measured in the blood in 10-1000?ng/ml amounts.SupplementalLyme disease Ab, SerumAntibodies to Borrelia Burgdorferi, screen with ELISA, confirmation with Western blot; results reported as positive, negative or not doneSupplementalMethylmalonic acidElevated levels associated with B12 deficiency; sample normal range 73-271 nmol/L; often elevated non-specifically in elderly; measured in nmol/LSupplementalParaneoplastic panelTest for autoantibodies often associated with cancers; includes ANNA 1(Hu); ANNA 2 (Ri), ANNA 3, anti-Yo (against Purkinje cells); Purkinje cell Tr, CRMP-5 IgG, amphyiphysin Ab, AGNA1, antibodies to voltage gated potassium channels, AChR binding and antibodies against ganglionic neuronal antigens, often NMO IgG, and others; results reported as positive or negative, and sometimes provided as titersSupplementalPregnancy test, bloodTest for beta subunit of human chorionic gonadotropin; results reported as positive, negative or not done; sensitive to as low as 1mIU/ml serumSupplementalPregnancy test, urineTest for beta subunit of human chorionic gonadotropin; results reported as positive, negative or not done; sensitive to as low as 10mIU/ml SupplementalProthrombin time (PT)Measures extrinsic coagulation pathway (functional assay of Factors I, Ii, V, VII and X); Sample normal range is 11-16 seconds; measured in secondsSupplementalProthrombin time/ international normalized ratio (PT/INR)Ratio of PT tested to PT of normal controls, used to standardize PT sample normal range is 0.8-1.2; measured as a ratio SupplementalProtoplasmic-staining AntiNeutrophil Cytoplasmic Antibodies (ANCA)Autoantibodies to cytoplasmic antigens in neutrophils; positive in several types of vasculidites, e.g. Wegner's, Churg-Strauss; usually given as titersSupplementalRapid plasma reagin (RPR/VDRL)Screening test for antibodies to syphilis in blood; most sensitive in Secondary Syphilis, less sensitive in primary and tertiary syphilis; should be confirmed with the more specific FTA-ABS testSupplementalRapid plasma reagin (RPR; syphilis)See above, RPR has largely replaced the older VDRL test; results reported as positive, negative or not doneSupplementalRheumatoid factorIgM autoantibody against Fc portion of self IgG; can bind to IG to form immune complexes; positive in 80% of patients with Rheumatoid Arthritis, 70% of patients with Sjogren's Syndrome, in 5-10% healthy controlsSupplementalserum IgAIsotype of Ig; sample normal range is 70-370 measured in mg/dLSupplementalserum IgEIsotype of Ig; upper limit of normal not well defined; measured in mg/dLSupplementalserum IgGIsotype of Ig; sample normal range is 700-1450; measured in mg/dLSupplementalserum IgMIsotype of Ig; sample normal range is 30-210; measured in mg/dLSupplementalSerum Pregnancy (if applicable)Results reported as positive, negative or not doneSupplementalSerum protein electrophoresis with immunofixationScreening test for disease such as multiple myeloma, macroglobulinemia, amyloidosis. Separation of major serum proteins by electrophoresis, with identification by immune methods; total protein : 6.4-8.3; albumin 3.5-5.0; alpha-1globulin 0.1-0.3; alpha-2-globulin 0.6-1.0; beta globulin 0.7-1.2; gamma globulin 0.7-1.6 g/dL; measured in g/dLSupplementalStool GuaiacTest for fecal occult blood, using alpha-guaiaconic acid and hydrogen peroxide; iron supplements and various foods can alter results reported as positive, negative or not doneSupplementalSulfatide AntibodyPositive results may indicate chronic sensory neuropathiesSupplementalTB Skin testing0.1ml purified protein derivative of T.B. Positive is >15mm induration; >10mm in immunosuppressed persons, negative <10mm. Can be false positive after BCG vaccination. Can be falsely negative; read as mm of induration at 48-72hr.SupplementalThrombin timeMeasured in secondsSupplementalThyroid stimulating hormone (TSH)Measured in mIU/LSupplementalThyroxine (T4), freeMeasured in mcg/dL; ordered and reported when TSH is <0.40 mlU/L or >4.00 mlU/LSupplementalTotal T4Measured in mcg/dL; normal range is approximately 4.5 to 12.5 mcg/dLSupplementalToxicology screenResults reported as positive, negative or not doneSupplementalTroponin IMeasured in ?g/LSupplementalTroponin TMeasured in ?g/LSupplementalVitamin B12, Serum levelMeasured in ng/LSupplementalVitamin D, 25 hydroxyMeasured in ng/mL or nmol/LSupplementalβ 2- glycoprotein Antibody IgG, IgMMeasured in SGU and SMU, respectivelySupplementalTable 6 Blood Gas TestsCDEGeneral CommentsPurposeClassificationAcidity/ pH?Intentionally Left BlankSafetySupplementalPartial pressure of oxygen (PO2)Measured in mmHgSafetySupplementalPartial pressure of carbon dioxide (PCO2)Measured in mmHgSafetySupplementalWhole blood bicarbonate (HCO3)Intentionally Left BlankSafetySupplementalFIO3Intentionally Left BlankSafetySupplementalTable 7 UrinalysisCDEGeneral CommentsPurposeClassificationAlbumin, urineMeasured in g/dLSafetySupplementalBacteriaReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalBilirubin, urineMeasured in mg/dLSafetySupplementalBloodReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalCastsReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalClarityNormal result = ClearSafetySupplementalColorNormal result = YellowSafetySupplementalCreatinine, urineMeasured in mg/dLSafetySupplementalCrystalsReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalCulture, urineMeasured in units/mLSafetySupplementalEpithelial cellsNormal result = Few or NoneSafetySupplementalGlomerular Filtration RateMeasured in mL/minSafetySupplementalGlucose, urineReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalHemoglobinReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalKetonesMeasured in mg/dLSafetySupplementalLeukocyte esteraseReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalLeukocytesReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalMyoglobinReported as positive or negativeSafetySupplementalNitriteReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalpHSafetySupplementalProteinMeasured in mg/dLSafetySupplementalRed cell/microscopic RBCMeasured in cells/high power field (HPF); Normal = Trace or None.SafetySupplementalSpecific gravitySafetySupplementalUrine cast/LPFReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalUrine Protein ElectrophoresisReported as description of what protein was found in urineSafetySupplementalUrobilinogenReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalWhite cell/microscopic WBCMeasured in cells/high power field (HPF); Normal = Trace or None.SafetySupplemental YeastReported as present or absent; normal result = Absent, abnormal result = PresentSafetySupplementalTable 8 Scalp ElectroencephalogramCDEGeneral CommentsPurposeClassificationActivating procedures usedPermissible values: Sleep; Hyperventilation; Photic stimulation; Unknown; Other, specifyDiagnosis/ SafetySupplementalRoutine EEG and Sleep-deprived EEGPermissible values: Awake; Asleep; Unresponsive state; Indeterminate; Other, specifyDiagnosis/ SafetySupplementalTable 9 Immune Cell SubsetsCDEGeneral CommentsPurposeClassificationCD2+T cell % and numberOther/SafetyExploratoryCD2+DRT cell % and numberOther/SafetyExploratoryCD3+ (T cells)T cell % and numberOther/SafetyExploratoryCD3+/CD4+T cell % and numberOther/SafetyExploratoryCD4+DRT cell % and numberOther/SafetyExploratoryCD3+/CD8+T cell % and numberOther/SafetyExploratoryCD8+DRT cell % and numberOther/SafetyExploratoryCD19+ (B cells)B cell % and numberOther/SafetyExploratoryCD3-/CD56+ (NK cells)Intentionally Left BlankOther/SafetyExploratoryCD14+ (monocytes)Intentionally Left BlankOther/SafetyExploratoryCD4/CD8 ratioIntentionally Left BlankOther/SafetyExploratoryCD20Intentionally Left BlankOther/SafetyExploratoryOther mononuclear subsetsIntentionally Left BlankOther/SafetyExploratory ................
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