natgillin/translations-raw huggingface dataset:
(hypoaesthesia)
(hipestezija)
The mutations not amenable to treatment with Galafold are listed in Table 3 below.
Mutacije, ki na zdravljenje z zdravilom Galafold niso odzivne, so navedene v preglednici 3.
If you are pregnant, think you may be pregnant, or are planning to have a baby, do not take this medicine until you have checked with your doctor, pharmacist, or nurse.
Če ste noseči, menite, da bi lahko bili noseči, ali načrtujete zanositev, se posvetujte z zdravnikom, farmacevtom ali medicinsko sestro, preden vzamete to zdravilo.
c.1018T>C or c.1018T>A c.T1018C or c.T1018A
c.1018T>C ali c.1018T>A c.T1018C ali c.T1018A
You should only take Galafold once every other day.
Zdravilo Galafold lahko vzamete samo enkrat vsak drugi dan.
Punch out the perforated circles on days you are not taking Galafold.
Preluknjate krogce na dneve, ko zdravila Galafold ne vzamete.
Do not take Galafold on two consecutive days.
Zdravila Galafold ne vzemite dva dneva zapored.
What Galafold contains - The active substance is migalastat.
Kaj vsebuje zdravilo Galafold - Zdravilna učinkovina je migalastat.
Do not cut, crush, or chew the capsule.
Kapsule ne smete razrezati, zdrobiti ali žvečiti.
Galafold contains the active substance migalastat.
Zdravilo Galafold vsebuje zdravilno učinkovino migalastat.
c.1196G>A or c.1197G>A c.G1196A or c.G1197A
c.1196G>A ali c.1197G>A c.G1196A ali c.G1197A
• Sensation of spinning
• Občutek vrtenja
g.6736_11545del c.370-533_c.1290+277del
NEZNANO (del Exon3 in g.6736_11545del c.370-533_c.1290+277del
c.A1C or c.A1T
c.A1C ali c.A1T
Patients randomised to placebo in Stage 1 and switched to Galafold at month 6 (Stage 2) also demonstrated statistically significant decreases in interstitial capillary GL-3 inclusions at month 12 (-0.33±0.15; -58%) (p=0.014).
Pri bolnikih, ki so bili v fazi 1 randomizirani na placebo in so na zdravilo Galafold prešli v 6. mesecu (faza 2), je bilo vključkov GL-3 v ntersticijskih kapilarah v 12. mesecu prav tako statistično značilno manj (-0,33 ± 0,15; -58 %) (p = 0,014).
c.G561T or c.G561A or c.G561C M187I
c.G561T ali c.G561A ali c.G561C M187I
In the ERT-experienced trial, renal function remained stable for up to 18 months of treatment with Galafold.
Pri preskušanju s predhodnim ERT je delovanje ledvic ostalo stabilno do 18 mesecev od začetka zdravljenja z zdravilom Galafold.
After an average of 3.4 years of treatment, the mean annualised rate of change in eGFRCKD-EPI was -0.74 mL/min/1.73 m
Po povprečno 3,4 letih zdravljenja je bila srednja letna stopnja spremembe eGFRCKD-EPI -0,74 ml/min/1,73 m
Respiratory, thoracic, and mediastinal disorders
Bolezni dihal, prsnega koša in mediastinalnega prostora dispneja epistaksa
c.1019G>A or c.1020G>A c.G1019A or c.G1020A
c.1019G>A ali c.1020G>A c.G1019A ali c.G1020A
c.T148C or c.C150G or c.C150A F50L
c.T148C ali c.C150G ali c.C150A F50L
Following a single oral dose of 150 mg migalastat hydrochloride solution, the time to peak plasma concentration was approximately 3 hours.
Čas do najvišje plazemske koncentracije po enkratnem peroralnem odmerku 150 mg raztopine migalastatijevega klorida je bil približno 3 ure.
(95% CI: -3.636, 1.575; n=18) in the ERT group.
(95-% CI: -3,636, 1,575; n = 18).
c.T337C or c.T339A or c.T339G F113L
c.T337C ali c.T339A ali c.T339G F113L
Protein Sequence change c.1202C>G or c.1202C>A c.C1202G or c.C1202A
c.1202C>G ali c.1202C>A c.C1202G ali c.C1202A
No reduction in proteinuria was observed in patients treated with Galafold.
Pri bolnikih, zdravljenih z zdravilom Galafold, zmanjšanje proteinurije ni bilo ugotovljeno.
c.T817C or c.T819A or c.T819G F273L
c.T817C ali c.T819A ali c.T819G F273L
c.G153A or c.G153T or c.G153C M51I
c.G153A ali c.G153T ali c.G153C M51I
How to take Galafold
Kako jemati zdravilo Galafold
Fertility in women It is not yet known if this medicine affects fertility in women.
Ni še znano, ali to zdravilo vpliva na plodnost pri ženskah.
Each capsule contains migalastat hydrochloride equivalent to 123 mg migalastat.
Ena kapsula vsebuje migalastatijevega klorida v količini, ki ustreza 123 mg migalastata.
It is advised to periodically monitor renal function, echocardiographic parameters and biochemical markers (every 6 months) in patients initiated on or switched to Galafold.
Pri bolnikih, ki so začeli ali prešli na zdravljenje z zdravilom Galafold, se priporoča periodično spremljanje ledvične funkcije, ehokardiografskih parametrov in biokemičnih markerjev (vsakih 6 mesecev).
c.A712C or c.T714A or c.T714G S238R
c.A712C ali c.T714A ali c.T714G S238R
It is not known whether Galafold is secreted in human milk.
Ni znano, ali se zdravilo Galafold izloča v materino mleko.
c.T1147C or c.C1149G or c.C1149A
c.T1147C ali c.C1149G ali c.C1149A
Patients randomised to Galafold in Stage 1 demonstrated statistically significant greater reduction (±SEM) in mean interstitial capillary GL-3 deposition (-0.25±0.10; -39%) at month 6 compared to placebo (+0.07 ± 0.13; +14%) (p=0.008).
Pri bolnikih, ki so bili v fazi 1 randomizirani na zdravilo Galafold, se je srednje odlaganje GL-3 v intersticijskih kapilarah v 6. mesecu v primerjavi s placebom (+0,07 ± 0,13; +14 %) statistično značilno bolj zmanjšalo (±SEM) (-0,25 ± 0,10; -39 %) (p = 0,008).
c.A504C or c.A504T
c.A504C ali c.A504T
While taking Galafold you should use effective birth control.
Med jemanjem zdravila Galafold morate uporabljati učinkovito kontracepcijo.
c.G611A or G612A
c.G611A ali G612A
Skin and subcutaneous tissue disorders
Bolezni kože in podkožja izpuščaj pruritus
c.A924T or c.A924C
c.A924T ali c.A924C
Protein Sequence change c.1A>C or c.1A>T
Sprememba proteinskega zapaliedja c.1A>C ali c.1A>T
c.A442C or c.T444A or c.T444G S148R
c.A442C ali c.T444A ali c.T444G S148R
Hepatic impairment No dosage adjustment of Galafold is required in patients with hepatic impairment (see section 5.2).
Okvara jeter Pri bolnikih z okvaro jeter prilagoditev odmerka zdravila Galafold ni potrebna (glejte razdelek 5.2).
(torticollis)
(tortikolis)
In a single dose study with Galafold in non-Fabry subjects with varying degrees of renal insufficiency, exposures were increased by 4.3-fold in subjects with severe renal impairment (GFR < 30 mL/min/1.73 m
V študiji s enkratnim odmerkom zdravila Galafold pri bolnikih, ki nimajo Fabryjeve bolezni in imajo različno stopnjo ledvične insuficience, se je pri osebah s hudo okvaro ledvic (GFR > 30 ml/min/1,73 m2) izpostavljenost povečala za 4,3-krat.
Based upon in vivo data, migalastat is a substrate for UGT, being a minor elimination pathway.
Po podatkih raziskav in vivo je migalastat substrat za encim UGT.
Blood Creatine Phosphokinase increased
Preiskave zvišana raven kreatin fosfokinaze v krvi povečana telesna masa
In the ERT-naïve trial, Galafold resulted in a statistically significant decrease in LVMi (p< 0.05); the mean change from baseline in LVMi at Month 18 to 24 was -7.7 (95% CI: -15.4, -0.01; n=27).
Pri preskušanju brez predhodnega ERT je zdravilo Galafold povzročilo statistično značilno zmanjšanje LVMi (p < 0,05); srednja sprememba od izhodiščnega LVMi v 18. do 24. mesecu je bila -7,7 (95-% CI: -15,4, -0,01; n = 27).
c.611G>A or 612G>A
c.611G>A ali 612G>A
c.140G>A or 141G>A
c.140G>A ali 141G>A
c.1095T>A or c.1095T>G c.T1095A or c.T1095G
c.1095T>A ali c.1095T>G c.T1095A ali c.T1095G
c.504A>C or c.504A>T
c.504A>C ali c.504A>T
c.712A>C or c.714T>A or c.714T>G
c.712A>C ali c.714T>A ali c.714T>G
Paraesthesia Dizziness Hypoaesthesia
Bolezni živčevja glavobol parestezije omotica hipestezija
After follow up in the OLE, the mean change from baseline in LVMi at Month 36 was -8.3 (95% CI: -17.1, 0.4; n=25) and at Month 48 was -9.1 (95% CI: -20.3, 2.0; n=18).
Po sledenju v odprtem podaljšanem preskušanju je bila srednja sprememba od izhodiščnega LVMi v 36. mesecu -8,3 (95-% CI: -17,1, 0,4; n = 25), v 48. mesecu pa -9,1 (95-% CI: -20,3, 2,0; n = 18).
c.1045T>C or c.1045T>A c.T1045C or c.T1045A
c.1045T>C ali c.1045T>A c.T1045C ali c.T1045A
Alternate daily between taking the capsule on odd numbered days and punching out the perforated white circles on even numbered days, up to and including day 28.
Po 2. dnevu se pomikajte v desno po pretisnem omotu in do vključno 28. dne nadaljujte tako, da na lihe dneve vzamete kapsulo, na sode dneve pa preluknjate bel krogec.
Do not eat food at least 2 hours before and 2 hours after taking your medicine to give a minimum 4 hours fast.
Vsaj 2 uri pred jemanjem in 2 uri po jemanju zdravila ne jejte, tako da skupno vsaj 4 ure ne pojeste ničesar.
• are allergic to migalastat or any of the other ingredients of this medicine (listed in section 6) Warnings and precautions
Ne jemljite zdravila Galafold: • če ste alergični na migalastat ali katero koli sestavino tega zdravila (navedeno v poglavju 6).
c.G412A or c.G412C
c.G412A ali c.G412C
c.T139C or c.T139A
c.T139C ali c.T139A
c.G126A or c.G126C or c.G126T M42I
c.G126A ali c.G126C ali c.G126T M42I
c.1147T>C or c.1149C>G or c.1149C>A
c.1147T>C ali c.1149C>G ali c.1149C>A
c.C816A or c.C816G
c.C816A ali c.C816G
c.1046G>A or c.1047G>A c.G1046A or c.G1047A
c.1046G>A ali c.1047G>A c.G1046A ali c.G1047A
Galafold is to be taken every other day.
Zdravilo Galafold vzemite vsak drugi dan.
c.1034C>G or c.1034C>A c.C1034G or c.C1034A
c.1034C>G ali c.1034C>A c.C1034G ali c.C1034A
c.C519A or c.C519G
c.C519A ali c.C519G
c.369+3_639+954del3129insT UNKNOWN (del Exon3 and 4?)
c.369+3_639+954del3129insT NEZNANO (del Exon3 in g.6009_9741del
c.216G>A or c.216G>T or c.216G>C
c.216G>A ali c.216G>T ali c.216G>C
c.C159G or c.C159A
c.C159G ali c.C159A
c.G216A or c.G216T or c.G216C M72I
c.G216A ali c.G216T ali c.G216C M72I
This is a common spontaneous tumour in ad libitum-fed male rats.
To je pri ad libitum hranjenih podganjih samcih pogost spontani tumor.
c.C207A or c.C207G
c.C207A ali c.C207G
c.1065C>A or c.1065C>G c.C1065A or c.C1065G
c.1065C>A ali c.1065C>G c.C1065A ali c.C1065G
Following ascending single oral doses (25-675 mg migalastat hydrochloride), no trends were found for clearance, CL/F).
Pri očistku (CL/F) ni bil po dajanju enkratnih naraščajočih peroralnih odmerkov (25-675 mg migalastatijevega klorida) prepoznan noben trend.
c.G284A or c.G285A
c.G284A ali c.G285A
c.924A>T or c.924A>C
c.924A>T ali c.924A>C
c.442A>C or c.444T>A or c.444T>G
c.442A>C ali c.444T>A ali c.444T>G
c.G140A or G141A
c.G140A ali G141A
c.280T>A or c.281G>C
c.280T>A ali c.281G>C
c.3G>A or c.3G>T or c.3G>C c.G3A or c.G3T or c.G3C
c.3G>A ali c.3G>T ali c.3G>C c.G3A ali c.G3T ali c.G3C
c.159C>G or c.159C>A
c.159C>G ali c.159C>A
c.A124C or c.A124T
c.A124C ali c.A124T
c.139T>C or c.139T>A
c.139T>C ali c.139T>A
c.T187A or c.G188C
c.T187A ali c.G188C
c.T241C or c.T241A
c.T241C ali c.T241A
c.G870A or c.G870C or c.G870T M290I
c.G870A ali c.G870C ali c.G870T M290I
c.G982A or c.G982C
c.G982A ali c.G982C
c.148T>C or c.150C>G or c.150C>A
c.148T>C ali c.150C>G ali c.150C>A
c.G228C or c.G228A or c.G228T M76I
c.G228C ali c.G228A ali c.G228T M76I
• Stomach ache
• Suha usta
c.T881G or c.T881A
c.T881G ali c.T881A
c.G285T or c.G285C
c.G285T ali c.G285C
c.G103C or c.G103A
c.G103C ali c.G103A
c.187T>A or c.188G>C
c.187T>A ali c.188G>C
c.T166A or c.G167C
c.T166A ali c.G167C
c.284G>A or c.285G>A
c.284G>A ali c.285G>A
c.C279G or c.C279A
c.C279G ali c.C279A
c.412G>A or c.412G>C
c.412G>A ali c.412G>C
c.561G>T or c.561G>A or c.561G>C
c.561G>T ali c.561G>A ali c.561G>C
Protein Sequence change
Sprememba proteinskega zapaliedja
c.153G>A or c.153G>T or c.153G>C
c.153G>A ali c.153G>T ali c.153G>C
c.T552A or c.T552G
c.T552A ali c.T552G
c.G261C or c.G261T
c.G261C ali c.G261T
• Tiredness
• Driska
c.G242A or c.G243A
c.G242A ali c.G243A
UNKNOWN (del Exon3?)
NEZNANO (del Exon3?)
c.241T>C or c.241T>A
c.241T>C ali c.241T>A
In the ERT- naïve trial, Galafold showed statistically significant reductions in plasma lyso-Gb3 concentrations and kidney interstitial capillary GL-3 inclusions in patients with amenable mutations.
Pri preskušanju brez predhodnega ERT se je pri bolnikih z odzivnimi mutacijami ob uporabi zdravila Galafold plazemska koncentracija lizo-Gb3 statistično značilno zmanjšala, prav tako je bilo manj vključkov GL-3 v intersticijskih kapilarah ledvic.
c.124A>C or c.124A>T
c.124A>C ali c.124A>T
c.C525G or c.C525A
c.C525G ali c.C525A
Galafold has not been studied in patients with Fabry disease who have a GFR less than 30 mL/min/1.73 m2.
Zdravilo Galafold ni bilo raziskano pri bolnikih s Fabryjevo boleznijo, pri katerih je GFR nižja od 30 ml/min/1,73 m2.
c.261G>C or c.261G>T
c.261G>C ali c.261G>T
c.285G>T or c.285G>C
c.285G>T ali c.285G>C
BLISTER FOIL
PRETISNA FOLIJA
c.G888A or c.G888T or c.G888C M296I
c.G888A ali c.G888T ali c.G888C M296I
c.G471C or c.G471T
c.G471C ali c.G471T
c.G131A or c.G132A
c.G131A ali c.G132A
c.G734A or c.G735A
c.G734A ali c.G735A
c.817T>C or c.819T>A or c.819T>G
c.817T>C ali c.819T>A ali c.819T>G
In the ERT-experienced trial, following 18 months of treatment with Galafold there was a statistically significant decrease in LVMi (p< 0.05).
Indeks mase levega prekata (LVMi, Left Ventricular Mass index) V preskušanju s predhodnim ERT se je po 18-mesečnem zdravljenju z zdravilom Galafold LVMi statistično značilno zmanjšal (p < 0,05).
c.G540C or c.G540T
c.G540C ali c.G540T
c.337T>C or c.339T>A or c.339T>G
c.337T>C ali c.339T>A ali c.339T>G
c.552T>A or c.552T>G
c.552T>A ali c.552T>G
Galafold is not recommended for use in patients with severe renal insufficiency, defined as estimated GFR less than 30 mL/min/1.73m
Uporaba zdravila Galafold ni priporočljiva pri bolnikih s hudo ledvično insuficienco, opredeljeno z ocenjeno GFR pod 30 ml/min/1,73 m
c.471G>C or c.471G>T
c.471G>C ali c.471G>T
c.G1081A or c.G1081C
c.G1081A ali c.G1081C
c.C233G or c.C233A
c.C233G ali c.C233A
c.G612T or c.G612C
c.G612T ali c.G612C
c.T258G or c.T258A
c.T258G ali c.T258A
c.G243T or c.G243C
c.G243T ali c.G243C
c.982G>A or c.982G>C
c.982G>A ali c.982G>C
c.G1074T or c.G1074C
c.G1074T ali c.G1074C
c.C305G or c.C305A
c.C305G ali c.C305A
The difference in clearance between Fabry patients ≥ 65 years and those < 65 years was 20%, which was not considered clinically significant.
Učinek starosti so vrednotili s populacijsko farmakokinetično analizo plazemskega očistka migalastata pri populaciji, ki še ni prejemala ERT. Razlika v očistku pri bolnikih s Fabryjevo boleznijo, starih 65 let ali več, in mlajših od 65 let, je znašala 20 %, kar ni klinično pomembno.
In the ERT-experienced trial, plasma lyso-Gb3 levels slightly increased but remained low in patients with amenable mutations treated with Galafold for the 30 month duration of the study.
Pri preskušanju s predhodnim ERT se je pri bolnikih z odzivnimi mutacijami, ki so bili med izvajanjem študije 30 mesecev zdravljeni z zdravilom Galafold, plazemska koncentracija lizo-Gb3 nekoliko povečala, a je ostala nizka.
c.C897G or c.C897A
c.C897G ali c.C897A
c.132G>T or c.132G>C
c.132G>T ali c.132G>C
c.279C>G or c.279C>A
c.279C>G ali c.279C>A
c.1074G>T or c.1074G>C
c.1074G>T ali c.1074G>C
c.519C>A or c.519C>G
c.519C>A ali c.519C>G
c.228G>C or c.228G>A or c.228G>T
c.228G>C ali c.228G>A ali c.228G>T
No studies have been carried out in subjects with impaired hepatic function.
Pri osebah z oslabljenim delovanjem jeter študije niso bile izvedene.
c.242G>A or c.243G>A
c.242G>A ali c.243G>A
c.612G>T or c.612G>C
c.612G>T ali c.612G>C
c.G132T or c.G132C
c.G132T ali c.G132C
c.C453G or c.C453A
c.C453G ali c.C453A
UNKNOWN (del Exon1_2?)
NEZNANO (del Exon1_2?)
c.A840T or c.A840C
c.A840T ali c.A840C
c.816C>A or c.816C>G
c.816C>A ali c.816C>G
c.A588T or c.A588C
c.A588T ali c.A588C
c.207C>A or c.207C>G
c.207C>A ali c.207C>G
Migalastat is not a substrate for P-glycoprotein (P-gP) in vitro and it is considered unlikely that migalastat would be subject to drug-drug interactions with cytochrome P450s.
Malo verjetno je, da bi bil migalastat udeležen v interakcijah med zdravili v povezavi s citokromom P450.
c.G144T or c.G144C
c.G144T ali c.G144C
c.243G>T or c.243G>C
c.243G>T ali c.243G>C
c.525C>G or c.525C>A
c.525C>G ali c.525C>A
c.T859C or c.T859A
c.T859C ali c.T859A
c.T960G or c.T960A
c.T960G ali c.T960A
c.C747G or c.C747A
c.C747G ali c.C747A
c.G567C or c.G567T
c.G567C ali c.G567T
c.T514A or c.G515C
c.T514A ali c.G515C
c.T154A or c.G155C
c.T154A ali c.G155C
c.131G>A or c.132G>A
c.131G>A ali c.132G>A
UNKNOWN (del Exon5_7?)
NEZNANO (del Exon5_7?)
c.G609C or c.G609T
c.G609C ali c.G609T
c.G288A or c.G288T or c.G288C M96I
c.G288A ali c.G288T ali c.G288C M96I
c.609G>C or c.609G>T
c.609G>C ali c.609G>T
92.9 g/m for the ERT arm and the mean change from baseline in LVMi at Month 18 was -6.6 (95% CI: -11.0, -2.1; n=31) for Galafold and -2.0 (95% CI: -11.0, 7.0; n=13) for ERT.
V 18. mesecu je povprečna sprememba indeksa LVMi od začetka zdravljenja za zdravilo Galafold znašala -6,6 (95-% CI: -11,0, -2,1; n = 31), za zdravljenje ERT pa -2,0 (95-% CI: -11,0, 7,0; n = 13).
c.144G>T or c.144G>C
c.144G>T ali c.144G>C
c.1081G>A or c.1081G>C
c.1081G>A ali c.1081G>C
The GLA mutations amenable and not amenable to treatment with Galafold are listed in Table 2 and Table 3 respectively below.
Na zdravljenje z zdravilom Galafold odzivne in neodzivne mutacije gena GLA so navedene v preglednicah 2 in 3.
c.166T>A or c.167G>C
c.166T>A ali c.167G>C
c.258T>G or c.258T>A
c.258T>G ali c.258T>A
c.T408A or c.T408G
c.T408A ali c.T408G
c.540G>C or c.540G>T
c.540G>C ali c.540G>T
c.233C>G or c.233C>A
c.233C>G ali c.233C>A
c.103G>C or c.103G>A
c.103G>C ali c.103G>A
c.707G>A or c.708G>A
c.707G>A ali c.708G>A
c.T369G or c.T369A
c.T369G ali c.T369A
c.G830A or c.G831A
c.G830A ali c.G831A
c.G485A or c.G486A
c.G485A ali c.G486A
c.G831T or c.G831C
c.G831T ali c.G831C
c.G141C or c.G141T
c.G141C ali c.G141T
c.567G>C or c.567G>T
c.567G>C ali c.567G>T
c.G860A or c.G861A
c.G860A ali c.G861A
c.141G>C or c.141G>T
c.141G>C ali c.141G>T
c.T610C or c.T610A
c.T610C ali c.T610A
c.881T>G or c.881T>A
c.881T>G ali c.881T>A
c.610T>C or c.610T>A
c.610T>C ali c.610T>A
c.G71A or c.G72A
c.G71A ali c.G72A
c.870G>A or c.870G>C or c.870G>T
c.870G>A ali c.870G>C ali c.870G>T
c.453C>G or c.453C>A
c.453C>G ali c.453C>A
c.T280A or c.G281C
c.T280A ali c.G281C
c.831G>T or c.831G>C
c.831G>T ali c.831G>C
c.G861C or c.G861T
c.G861C ali c.G861T
c.C456A or c.C456G
c.C456A ali c.C456G
c.305C>G or c.305C>A
c.305C>G ali c.305C>A
c.C966A or c.C966G
c.C966A ali c.C966G
c.T465A or c.T465G
c.T465A ali c.T465G
c.960T>G or c.960T>A
c.960T>G ali c.960T>A
c.860G>A or c.861G>A
c.860G>A ali c.861G>A
Psychiatric disorders
Psihiatrične motnje depresija
c.859T>C or c.859T>A
c.859T>C ali c.859T>A
c.514T>A or c.515G>C
c.514T>A ali c.515G>C
• Constipation
• Utrujenost
c.288G>A or c.288G>T or c.288G>C
c.288G>A ali c.288G>T ali c.288G>C
c.108G>C or c.108G>T
c.108G>C ali c.108G>T
c.T676C or c.T676A
c.T676C ali c.T676A
c.G439A or c.G439C
c.G439A ali c.G439C
c.888G>A or c.888G>T or c.888G>C
c.888G>A ali c.888G>T ali c.888G>C
c.897C>G or c.897C>A
c.897C>G ali c.897C>A
c.830G>A or c.831G>A
c.830G>A ali c.831G>A
c.394G>A or c.394G>C
c.394G>A ali c.394G>C
Abdominal pain Constipation Dry mouth
Bolezni prebavil driska navzea bolečine v trebuhu zaprtje suha usta tiščanje na blato dispepsija
c.G108C or c.G108T
c.G108C ali c.G108T
c.485G>A or c.486G>A
c.485G>A ali c.486G>A
c.465T>A or c.465T>G
c.465T>A ali c.465T>G
c.154T>A or c.155G>C
c.154T>A ali c.155G>C
Musculoskeletal and connective tissue disorders
Bolezni mišično-skeletnega sistema in vezivnega tkiva mišični krči mialgija tortikolis bolečina v okončinah
How to store Galafold
Shranjevanje zdravila Galafold
c.T648A or c.T648G
c.T648A ali c.T648G
Headache and dizziness were the most common adverse reactions reported at doses of Galafold of up to 1250 mg and 2000 mg, respectively.
Najpogostejša neželena učinka pri odmerkih zdravila Galafold do 1.250 oz. 2.000 mg sta bila glavobol in omotica.
c.734G>A or c.735G>A
c.734G>A ali c.735G>A
c.A868C or c.A868T
c.A868C ali c.A868T
c.439G>A or c.439G>C
c.439G>A ali c.439G>C
• Muscle pain (myalgia)
• Mravljinčenje v okončinah (parestezija)
The change from baseline to Month 18 in LVMi (g/m 2) in patients with left ventricular hypertrophy (females with baseline LVMi > 95 g/m and males with baseline LVMi > 115 g/m2) was -8.4 (95% CI: -15.7, 2.6; n=13) for migalastat and 4.5 (95% CI: -10.7, 18.4; n=5) for ERT. After 30 months treatment with Galafold, the mean change from baseline in LVMi was -3.8 (95% CI: -8.9, 1.3; n=28) and the mean change from baseline in LVMi in patients with left ventricular hypertrophy at baseline was -10.0 (95% CI: -16.6, -3.3; n=10).
Pri bolnikih s hipertrofijo levega prekata (ženske z izhodiščnim LVMi > 95 g/m in moški z izhodiščnim LVMi > 115 g/m2) se je LVMi (g/m2) od začetka zdravljenja do 18. meseca pri migalastatu spremenil za -8,4 (95-% CI: -15,7, 2,6; n = 13) in pri ERT za 4,5 (95-% CI: -10,7, 18,4; n = 5).
c.588A>T or c.588A>C
c.588A>T ali c.588A>C
c.G394A or c.G394C
c.G394A ali c.G394C
After follow up in the OLE, the mean change from baseline in LVMi in patients with left ventricular hypertrophy at baseline at Month 36 was -30.0 (95%) CI: -57.9, -2.2; n=4) and at Month 48
Po sledenju v odprtem podaljšanem preskušanju je bila srednja sprememba od izhodiščnega LVMi pri bolnikih s hipertrofijo levega prekata v izhodišču v 36. mesecu -30,0 (95-% CI: -57,9, -2,2; n = 4), v 48. mesecu pa -33,1 (CI: -60,9, -5,4; n = 4).
Galafold is not recommended for use in patients with Fabry disease who have estimated GFR less than 30 mL/min/1.73 m
Uporaba zdravila Galafold ni priporočljiva pri bolnikih s Fabryjevo boleznijo, pri katerih je ocenjena stopnja glomerulne filtracije (GFR) manjša kot 30 ml/min/1,73 m
C]-migalastat hydrochloride in the concentration range between 1 and
C]-migalastatijevega klorida v koncentracijskem razponu od 1 do 100 M ni bilo zaznavne vezave na plazemske proteine.
c.T70C or c.T70A
c.T70C ali c.T70A
c.T484C or c.T484A
c.T484C ali c.T484A
c.G486C or c.G486T
c.G486C ali c.G486T
c.840A>T or c.840A>C
c.840A>T ali c.840A>C
c.T834G or c.T834A
c.T834G ali c.T834A
c.966C>A or c.966C>G
c.966C>A ali c.966C>G
c.456C>A or c.456C>G
c.456C>A ali c.456C>G
c.T667A or c.G668C
c.T667A ali c.G668C
c.T687A or c.T687G
c.T687A ali c.T687G
c.G707A or c.G708A
c.G707A ali c.G708A
c.708G>C or c.708G>T
c.708G>C ali c.708G>T
UNKNOWN (del Exon3_7?)
NEZNANO (del Exon3_7?)
• Indigestion (dyspepsia)
• Kratka sapa (dispneja)
c.408T>A or c.408T>G
c.408T>A ali c.408T>G
c.486G>C or c.486G>T
c.486G>C ali c.486G>T
c.G837C or c.G837T
c.G837C ali c.G837T
c.T894G or c.T894A
c.T894G ali c.T894A
c.369T>G or c.369T>A
c.369T>G ali c.369T>A
c.837G>C or c.837G>T
c.837G>C ali c.837G>T
c.676T>C or c.676T>A
c.676T>C ali c.676T>A
• Dizziness
• Izpuščaj
c.C666A or c.C666G
c.C666A ali c.C666G
c.784T>A or c.784T>C
c.784T>A ali c.784T>C
c.102T>G or c.102T>A
c.102T>G ali c.102T>A
c.70T>C or c.70T>A
c.70T>C ali c.70T>A
c.71G>A or c.72G>A
c.71G>A ali c.72G>A
Mean annualised rate of change in eGFRCKD-EPI was -0.40 mL/min/1.73 m
Srednja letna stopnja spremembe eGFRCKD-EPI je bila v skupini, zdravljeni z zdravilom Galafold, -0,40 ml/min/1,73 m
c.T102G or c.T102A
c.T102G ali c.T102A
c.T402G or c.T402A
c.T402G ali c.T402A
BLISTER SLEEVE
Okvara ledvic
c.G936T or c.G936C
c.G936T ali c.G936C
c.G978C or c.G978T
c.G978C ali c.G978T
Galafold 123 mg hard capsules migalastat
Galafold 123 mg trde kapsule migalastat
c.A1023C or c.A1023T
c.1023A >C ali c.1023A>T c.A1023C ali c.A1023T
c.G772C or c.G772A
c.G772C ali c.G772A
c.A886T or c.A886C
c.A886T ali c.A886C
c.T784A or c.T784C
c.T784A ali c.T784C
c.T706C or c.T706A
c.T706C ali c.T706A
c.[790G>T; 805G>A]
Sprememba proteinskega zapaliedja c.[790G>T; 805G>A]
c.G729C or c.G729T
c.G729C ali c.G729T
c.G785A or c.G786A
c.G785A ali c.G786A
UNKNOWN (del Exon2_3?)
NEZNANO (del Exon2_3?)
Protein Sequence change c.744delT
Sprememba proteinskega zapaliedja c.214delA
c.720G>C or c.720G>T
c.720G>C ali c.720G>T
c.729G>C or c.729G>T
c.729G>C ali c.729G>T
c.G708C or c.G708T
c.G708C ali c.G708T
c.747C>G or c.747C>A
c.747C>G ali c.747C>A
Table 2: Galafold (migalastat) amenability table
Preglednica 2: Preglednica odzivnosti na zdravilo Galafold (migalastat)
c.G963C or c.G963T
c.G963C ali c.G963T
c.402T>G or c.402T>A
c.402T>G ali c.402T>A
c.834T>G or c.834T>A
c.834T>G ali c.834T>A
c.706T>C or c.706T>A
c.706T>C ali c.706T>A
c.G720C or c.G720T
c.G720C ali c.G720T
c.702T>G or c.702T>A
c.702T>G ali c.702T>A
c.868A>C or c.868A>T
c.868A>C ali c.868A>T
c.648T>A or c.648T>G
c.648T>A ali c.648T>G
c.978G>C or c.978G>T
c.978G>C ali c.978G>T