FrancophonIA/ELRC3.0 huggingface dataset:
English: c.216G>A or c.216G>T or c.216G>C
Finnish: c.216G>A tai c.216G>T tai c.216G>C
English: c.G412A or c.G412C
Finnish: c.G412A tai c.G412C
English: While taking Galafold you should use effective birth control.
Finnish: Galafold-hoidon aikana on käytettävä tehokasta ehkäisyä.
English: c.3G>A or c.3G>T or c.3G>C c.G3A or c.G3T or c.G3C
Finnish: c.3G>A tai c.3G>T tai c.3G>C c.G3A tai c.G3T tai c.G3C
English: c.228G>C or c.228G>A or c.228G>T
Finnish: c.228G>C tai c.228G>A tai c.228G>T
English: c.G103C or c.G103A
Finnish: c.G103C tai c.G103A
English: c.1147T>C or c.1149C>G or c.1149C>A
Finnish: c.1147T>C tai c.1149C>G tai c.1149C>A
English: No reduction in proteinuria was observed in patients treated with Galafold.
Finnish: Galafold-hoitoa saaneilla potilailla ei havaittu proteiinivirtsaisuuden vähenemistä.
English: c.561G>T or c.561G>A or c.561G>C
Finnish: c.561G>T tai c.561G>A tai c.561G>C
English: c.817T>C or c.819T>A or c.819T>G
Finnish: c.817T>C tai c.819T>A tai c.819T>G
English: c.G216A or c.G216T or c.G216C M72I
Finnish: c.G216A tai c.G216T tai c.G216C M72I
English: c.T241C or c.T241A
Finnish: c.T241C tai c.T241A
English: It is not yet known whether this medicine passes into breast milk.
Finnish: Vielä ei tiedetä, erittyykö tämä lääke rintamaitoon.
English: c.C207A or c.C207G
Finnish: c.C207A tai c.C207G
English: c.G870A or c.G870C or c.G870T M290I
Finnish: c.G870A tai c.G870C tai c.G870T M290I
English: c.G284A or c.G285A
Finnish: c.G284A tai c.G285A
English: c.C279G or c.C279A
Finnish: c.C279G tai c.C279A
English: c.159C>G or c.159C>A
Finnish: c.159C>G tai c.159C>A
English: c.924A>T or c.924A>C
Finnish: c.924A>T tai c.924A>C
English: c.280T>A or c.281G>C
Finnish: c.280T>A tai c.281G>C
English: Migalastat did not affect fertility in female rats.
Finnish: Migalastaatti ei vaikuttanut naarasrottien hedelmällisyyteen.
English: c.T881G or c.T881A
Finnish: c.T881G tai c.T881A
English: Do not take Galafold if you:
Finnish: Älä ota Galafoldia
English: • Protein in the urine
Finnish: • proteiinivirtsaisuus
English: This medicine works by stabilising the enzyme that your body produces naturally, so that it can work better to reduce the amount of GL-3 that has accumulated in your cells and tissues.
Finnish: Tällöin entsyymi voi vähentää tehokkaammin soluihin ja kudoksiin kertyneen GL-3:n määrää.
English: c.337T>C or c.339T>A or c.339T>G
Finnish: c.337T>C tai c.339T>A tai c.339T>G
English: c.412G>A or c.412G>C
Finnish: c.412G>A tai c.412G>C
English: See package leaflet for further instructions.
Finnish: Katso lisäohjeet pakkausselosteesta.
English: c.153G>A or c.153G>T or c.153G>C
Finnish: c.153G>A tai c.153G>T tai c.153G>C
English: Fabry disease-causing mutations in the GLA gene result in a deficiency of the lysosomal enzyme -galactosidase A (-Gal A) that is required for glycosphingolipid substrate (e.g., GL-3, lyso-Gb3) metabolism.
Finnish: Fabryn tautia aiheuttavat mutaatiot GLA-geenissä aiheuttavat lysosomaalisen entsyymin -galaktosidaasi A:n (-Gal A) puutetta.
English: 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).
Finnish: Avoimessa jatkotutkimuksessa (OLE) keskimääräinen LVMi-arvon muutos lähtötasosta kuukauteen 36 oli -8,3 (95 %:n luottamusväli: -17,1, 0,4; n = 25), ja kuukauteen 48 muutos oli -9,1 (95 %:n luottamusväli: -20,3; 2,0; n=18).
English: Protein Sequence change
Finnish: Proteiinisekvenssin muutos
English: c.G261C or c.G261T
Finnish: c.G261C tai c.G261T
English: Plasma lyso- Gb3 levels also remained low in patients on ERT for up to 18 months.
Finnish: Myös 18 kuukautta entsyymikorvaushoitoa saaneilla potilailla lyso-Gb3:n pitoisuudet plasmassa pysyivät pieninä.
English: c.284G>A or c.285G>A
Finnish: c.284G>A tai c.285G>A
English: UNKNOWN (del Exon3 and 4?)
Finnish: TUNTEMATON (del Exon3 ja 4?)
English: c.T187A or c.G188C
Finnish: c.T187A tai c.G188C
English: c.G540C or c.G540T
Finnish: c.G540C tai c.G540T
English: Galafold 123 mg hard capsules Migalastat
Finnish: Galafold 123 mg, kovat kapselit migalastaatti
English: c.G471C or c.G471T
Finnish: c.G471C tai c.G471T
English: c.G734A or c.G735A
Finnish: c.G734A tai c.G735A
English: c.G131A or c.G132A
Finnish: c.G131A tai c.G132A
English: c.G242A or c.G243A
Finnish: c.G242A tai c.G243A
English: c.G888A or c.G888T or c.G888C M296I
Finnish: c.G888A tai c.G888T tai c.G888C M296I
English: c.G285T or c.G285C
Finnish: c.G285T tai c.G285C
English: c.G612T or c.G612C
Finnish: c.G612T tai c.G612C
English: c.T166A or c.G167C
Finnish: c.T166A tai c.G167C
English: Paraesthesia Dizziness Hypoaesthesia
Finnish: Tuntoharhat Heitehuimaus Hypestesia
English: c.612G>T or c.612G>C
Finnish: c.612G>T tai c.612G>C
English: c.C525G or c.C525A
Finnish: c.C525G tai c.C525A
English: c.G982A or c.G982C
Finnish: c.G982A tai c.G982C
English: c.124A>C or c.124A>T
Finnish: c.124A>C tai c.124A>T
English: c.187T>A or c.188G>C
Finnish: c.187T>A tai c.188G>C
English: c.C233G or c.C233A
Finnish: c.C233G tai c.C233A
English: c.261G>C or c.261G>T
Finnish: c.261G>C tai c.261G>T
English: c.519C>A or c.519C>G
Finnish: c.519C>A tai c.519C>G
English: galafold 123 mg hard capsules
Finnish: Galafold 123 mg, kovat kapselit
English: c.285G>T or c.285G>C
Finnish: c.285G>T tai c.285G>C
English: c.552T>A or c.552T>G
Finnish: c.552T>A tai c.552T>G
English: c.C305G or c.C305A
Finnish: c.C305G tai c.C305A
English: c.C747G or c.C747A
Finnish: c.C747G tai c.C747A
English: c.T552A or c.T552G
Finnish: c.T552A tai c.T552G
English: c.279C>G or c.279C>A
Finnish: c.279C>G tai c.279C>A
English: C]-migalastat hydrochloride revealed that approximately 77% of the radiolabeled dose was recovered in urine of which 55% of was excreted as unchanged migalastat and 4% as combined metabolites M1, M2 and M3.
Finnish: Farmakokineettinen tutkimus, jossa terveille vapaaehtoisille miehille annettiin 150 mg [14C]-migalastaattihydrokloridia, osoitti, että noin 77 prosenttia radioaktiivisesti merkitystä annoksesta todettiin virtsasta, josta 55 prosenttia erittyi muuttumattomana migalastaattina ja 4 prosenttia M1-, M2- ja M3-metaboliitteinaJäljelle jäävä 5 prosenttia koostuu metaboliiteista, joiden pitoisuus ei ollut mitattavissa.
English: Non-clinical studies suggest no specific hazard for humans on the basis of single-and repeat-dose studies, with the exception of transient and fully reversible infertility in male rats associated with migalastat treatment.
Finnish: Ei-kliiniset tutkimukset eivät kerta-annosta ja toistuvia annoksia koskevien tutkimusten perusteella viittaa erityiseen vaaraan ihmisille.
English: c.G1081A or c.G1081C
Finnish: c.G1081A tai c.G1081C
English: c.242G>A or c.243G>A
Finnish: c.242G>A tai c.243G>A
English: c.241T>C or c.241T>A
Finnish: c.241T>C tai c.241T>A
English: c.471G>C or c.471G>T
Finnish: c.471G>C tai c.471G>T
English: • Pain
Finnish: • kutina
English: c.T258G or c.T258A
Finnish: c.T258G tai c.T258A
English: c.C453G or c.C453A
Finnish: c.C453G tai c.C453A
English: The mean change from baseline in LVMi at Month 18 to 24 in patients with left ventricular hypertrophy at baseline (females with baseline LVMi > 95 g/m or males with baseline LVMi > 115 g/m 2) was -18.6 (95% CI: -38.2, 1.0; n=8).
Finnish: Potilailla, joilla oli lähtötilanteessa vasemman kammion hypertrofia, LVMi-arvon keskimääräinen muutos lähtötasosta kuukauteen 18-24 (naisten lähtötason LVMi > 95 g/m ja miesten lähtötason LVMi > 115 g/m2) oli -18,6 (95 %:n luottamusväli: -38,2, 1,0; n = 8).
English: Hepatic impairment No dosage adjustment of Galafold is required in patients with hepatic impairment (see section 5.2).
Finnish: Maksan vajaatoiminta Annosta ei tarvitse muuttaa maksan vajaatoimintaa sairastavilla potilailla (ks. kohta 5.2).
English: c.A840T or c.A840C
Finnish: c.A840T tai c.A840C
English: c.207C>A or c.207C>G
Finnish: c.207C>A tai c.207C>G
English: Galafold exposure is decreased by approximately 40% when taken with food and therefore food should not be consumed at least 2 hours before and 2 hours after taking Galafold to give a minimum 4 hours fast.
Finnish: Siksi potilaan ei pidä syödä ruokaa vähintään kahteen tuntiin ennen Galafoldin ottamista ja kahteen tuntiin sen ottamisen jälkeen, jotta paasto kestää vähintään neljä tuntia.
English: UNKNOWN (del Exon3?)
Finnish: TUNTEMATON (del Exon3?)
English: c.T514A or c.G515C
Finnish: c.T514A tai c.G515C
English: c.T960G or c.T960A
Finnish: c.T960G tai c.T960A
English: c.233C>G or c.233C>A
Finnish: c.233C>G tai c.233C>A
English: c.G288A or c.G288T or c.G288C M96I
Finnish: c.G288A tai c.G288T tai c.G288C M96I
English: c.131G>A or c.132G>A
Finnish: c.131G>A tai c.132G>A
English: c.G1074T or c.G1074C
Finnish: c.G1074T tai c.G1074C
English: c.C897G or c.C897A
Finnish: c.C897G tai c.C897A
English: c.G567C or c.G567T
Finnish: c.G567C tai c.G567T
English: c.G609C or c.G609T
Finnish: c.G609C tai c.G609T
English: c.T859C or c.T859A
Finnish: c.T859C tai c.T859A
English: c.132G>T or c.132G>C
Finnish: c.132G>T tai c.132G>C
English: c.G132T or c.G132C
Finnish: c.G132T tai c.G132C
English: UNKNOWN (del Exon1_2?)
Finnish: TUNTEMATON (del Exon1_2?)
English: c.540G>C or c.540G>T
Finnish: c.540G>C tai c.540G>T
English: c.243G>T or c.243G>C
Finnish: c.243G>T tai c.243G>C
English: c.816C>A or c.816C>G
Finnish: c.816C>A tai c.816C>G
English: c.T154A or c.G155C
Finnish: c.T154A tai c.G155C
English: c.G243T or c.G243C
Finnish: c.G243T tai c.G243C
English: c.G144T or c.G144C
Finnish: c.G144T tai c.G144C
English: c.982G>A or c.982G>C
Finnish: c.982G>A tai c.982G>C
English: c.258T>G or c.258T>A
Finnish: c.258T>G tai c.258T>A
English: c.881T>G or c.881T>A
Finnish: c.881T>G tai c.881T>A
English: c.G141C or c.G141T
Finnish: c.G141C tai c.G141T
English: c.525C>G or c.525C>A
Finnish: c.525C>G tai c.525C>A
English: Abdominal pain Constipation Dry mouth
Finnish: Ummetus Suun kuivuminen Ulostamispakko Dyspepsia
English: c.1074G>T or c.1074G>C
Finnish: c.1074G>T tai c.1074G>C
English: c.G830A or c.G831A
Finnish: c.G830A tai c.G831A
English: c.T610C or c.T610A
Finnish: c.T610C tai c.T610A
English: UNKNOWN (del Exon5_7?)
Finnish: TUNTEMATON (del Exon5_7?)
English: c.103G>C or c.103G>A
Finnish: c.103G>C tai c.103G>A
English: c.144G>T or c.144G>C
Finnish: c.144G>T tai c.144G>C
English: c.1081G>A or c.1081G>C
Finnish: c.1081G>A tai c.1081G>C
English: c.609G>C or c.609G>T
Finnish: c.609G>C tai c.609G>T
English: c.610T>C or c.610T>A
Finnish: c.610T>C tai c.610T>A
English: In the ERT-experienced trial, following 18 months of treatment with Galafold there was a statistically significant decrease in LVMi (p< 0.05).
Finnish: Entsyymikorvaushoitoa aiemmin saamattomia potilaita koskevassa tutkimuksessa Galafold laski LVMi-arvoa (p < 0,05) tilastollisesti merkitsevästi.
English: c.T280A or c.G281C
Finnish: c.T280A tai c.G281C
English: c.T369G or c.T369A
Finnish: c.T369G tai c.T369A
English: c.707G>A or c.708G>A
Finnish: c.707G>A tai c.708G>A
English: c.305C>G or c.305C>A
Finnish: c.305C>G tai c.305C>A
English: c.960T>G or c.960T>A
Finnish: c.960T>G tai c.960T>A
English: c.453C>G or c.453C>A
Finnish: c.453C>G tai c.453C>A
English: c.870G>A or c.870G>C or c.870G>T
Finnish: c.870G>A tai c.870G>C tai c.870G>T
English: 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.
Finnish: Lähtöarvot olivat 95,3 g/m Galaford-hoitohaarassa ja 92,9 g/m2 ERT-hoitohaarassa, ja LVMi:n keskimääräinen muutos lähtöarvosta kuukauden 18 kohdalla oli -6,6 (95 %:n luottamusväli: -11,0, -2,1; n = 31) Galafold-hoitohaarassa ja -2,0 (95 %:n luottamusväli: -11,0, 7,0; n = 13) ERT-hoitohaarassa.
English: • Depression
Finnish: • väsymys
English: c.141G>C or c.141G>T
Finnish: c.141G>C tai c.141G>T
English: c.166T>A or c.167G>C
Finnish: c.166T>A tai c.167G>C
English: c.108G>C or c.108G>T
Finnish: c.108G>C tai c.108G>T
English: c.A588T or c.A588C
Finnish: c.A588T tai c.A588C
English: c.567G>C or c.567G>T
Finnish: c.567G>C tai c.567G>T
English: • Sudden need to defecate
Finnish: • äkillinen ulostamisen tarve
English: c.G860A or c.G861A
Finnish: c.G860A tai c.G861A
English: Approximately 20% of the total radiolabeled dose was excreted in faeces, with unchanged migalastat being the only measured component.
Finnish: Ainoa mitattu komponentti oli muuttumaton migalastaatti.
English: c.T408A or c.T408G
Finnish: c.T408A tai c.T408G
English: c.T465A or c.T465G
Finnish: c.T465A tai c.T465G
English: In the ERT-experienced trial, renal function remained stable for up to 18 months of treatment with Galafold.
Finnish: Entsyymikorvaushoitoa aiemmin saaneita potilaita koskevassa tutkimuksessa munuaistoiminta pysyi vakaana, kun potilas sai Galafold-hoitoa 18 kuukauden ajan.
English: c.G485A or c.G486A
Finnish: c.G485A tai c.G486A
English: c.830G>A or c.831G>A
Finnish: c.830G>A tai c.831G>A
English: c.G831T or c.G831C
Finnish: c.G831T tai c.G831C
English: c.G71A or c.G72A
Finnish: c.G71A tai c.G72A
English: c.734G>A or c.735G>A
Finnish: c.734G>A tai c.735G>A
English: c.860G>A or c.861G>A
Finnish: c.860G>A tai c.861G>A
English: c.G861C or c.G861T
Finnish: c.G861C tai c.G861T
English: c.C966A or c.C966G
Finnish: c.C966A tai c.C966G
English: c.859T>C or c.859T>A
Finnish: c.859T>C tai c.859T>A
English: c.T676C or c.T676A
Finnish: c.T676C tai c.T676A
English: c.G108C or c.G108T
Finnish: c.G108C tai c.G108T
English: c.C456A or c.C456G
Finnish: c.C456A tai c.C456G
English: c.831G>T or c.831G>C
Finnish: c.831G>T tai c.831G>C
English: c.888G>A or c.888G>T or c.888G>C
Finnish: c.888G>A tai c.888G>T tai c.888G>C
English: c.897C>G or c.897C>A
Finnish: c.897C>G tai c.897C>A
English: c.G439A or c.G439C
Finnish: c.G439A tai c.G439C
English: (95% CI: -2.653, -0.782; n=31).
Finnish: (95 %:n luottamusväli: -2,272, 1,478; n = 34) Galafold-ryhmässä ja
English: 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
Finnish: Galafoldia ei ole tutkittu Fabryn tautia sairastavilla potilailla, joiden glomerulusten suodatusnopeus (GFR) on alle 30 ml/min/1,73 m2. Kerta-annostutkimuksessa, jossa Galafoldia annettiin potilaille, joilla ei ollut Fabryn tautia ja joilla oli eriasteinen munuaisten vajaatoiminta, altistuminen nousi 4,3-kertaiseksi potilailla, joilla oli vaikea munuaisten vajaatoiminta (GFR < 30 ml/min/1,73 m
English: c.514T>A or c.515G>C
Finnish: c.514T>A tai c.515G>C
English: c.G486C or c.G486T
Finnish: c.G486C tai c.G486T
English: c.T70C or c.T70A
Finnish: c.T70C tai c.T70A
English: c.T102G or c.T102A
Finnish: c.T102G tai c.T102A
English: c.439G>A or c.439G>C
Finnish: c.439G>A tai c.439G>C
English: c.G837C or c.G837T
Finnish: c.G837C tai c.G837T
English: c.T648A or c.T648G
Finnish: c.T648A tai c.T648G
English: c.485G>A or c.486G>A
Finnish: c.485G>A tai c.486G>A
English: c.708G>C or c.708G>T
Finnish: c.708G>C tai c.708G>T
English: c.A868C or c.A868T
Finnish: c.A868C tai c.A868T
English: c.394G>A or c.394G>C
Finnish: c.394G>A tai c.394G>C
English: c.102T>G or c.102T>A
Finnish: c.102T>G tai c.102T>A
English: c.966C>A or c.966C>G
Finnish: c.966C>A tai c.966C>G
English: This is a common spontaneous tumour in ad libitum-fed male rats.
Finnish: Kyseinen kasvain on yleinen spontaani kasvain urosrotilla, joita ruokitaan ad libitum.
English: c.G394A or c.G394C
Finnish: c.G394A tai c.G394C
English: c.T834G or c.T834A
Finnish: c.T834G tai c.T834A
English: c.71G>A or c.72G>A
Finnish: c.71G>A tai c.72G>A
English: c.465T>A or c.465T>G
Finnish: c.465T>A tai c.465T>G
English: c.588A>T or c.588A>C
Finnish: c.588A>T tai c.588A>C
English: c.840A>T or c.840A>C
Finnish: c.840A>T tai c.840A>C
English: c.861G>C or c.861G>T
Finnish: c.861G>C tai c.861G>T
English: c.T667A or c.G668C
Finnish: c.T667A tai c.G668C
English: c.154T>A or c.155G>C
Finnish: c.154T>A tai c.155G>C
English: c.C666A or c.C666G
Finnish: c.C666A tai c.C666G
English: You should only take Galafold once every other day.
Finnish: Galafoldia saa ottaa vain joka toinen päivä.
English: c.837G>C or c.837G>T
Finnish: c.837G>C tai c.837G>T
English: c.747C>G or c.747C>A
Finnish: c.747C>G tai c.747C>A
English: UNKNOWN (del Exon3_7?)
Finnish: TUNTEMATON (del Exon3_7?)
English: c.676T>C or c.676T>A
Finnish: c.676T>C tai c.676T>A
English: c.486G>C or c.486G>T
Finnish: c.486G>C tai c.486G>T
English: c.288G>A or c.288G>T or c.288G>C
Finnish: c.288G>A tai c.288G>T tai c.288G>C
English: Pharmacotherapeutic group: Various alimentary tract and metabolism products ATC code: A16AX14
Finnish: ATC-koodi: A16AX14
English: c.456C>A or c.456C>G
Finnish: c.456C>A tai c.456C>G
English: c.369T>G or c.369T>A
Finnish: c.369T>G tai c.369T>A
English: c.T894G or c.T894A
Finnish: c.T894G tai c.T894A
English: c.T687A or c.T687G
Finnish: c.T687A tai c.T687G
English: c.G963C or c.G963T
Finnish: c.G963C tai c.G963T
English: c.T484C or c.T484A
Finnish: c.T484C tai c.T484A
English: c.720G>C or c.720G>T
Finnish: c.720G>C tai c.720G>T
English: Headache and dizziness were the most common adverse reactions reported at doses of Galafold of up to 1250 mg and 2000 mg, respectively.
Finnish: Kun Galafold-annos oli enintään 1 250 mg, yleisin ilmoitettu haittavaikutus oli päänsärky, ja kun Galafold-annos oli enintään 2 000 mg, yleisin ilmoitettu haittavaikutus oli heitehuimaus.
English: c.408T>A or c.408T>G
Finnish: c.408T>A tai c.408T>G
English: Once in lysosomes dissociation of migalastat restores -Gal A activity, leading to the catabolism of GL-3 and related substrates.
Finnish: Lysosomeissa migalastaatin dissosiaatio palauttaa -Gal A:n toiminnan.
English: UNKNOWN (del Exon2_3?)
Finnish: TUNTEMATON (del Exon2_3?)
English: c.784T>A or c.784T>C
Finnish: c.784T>A tai c.784T>C
English: c.G707A or c.G708A
Finnish: c.G707A tai c.G708A
English: • Tiredness
Finnish: • hengenahdistus
English: c.70T>C or c.70T>A
Finnish: c.70T>C tai c.70T>A
English: The mean annualised rate of change from baseline in eGFRCKD-EPI in patients treated for 30 months with Galafold was -1.72 mL/min/1.73 m
Finnish: eGFRCKD-EPI:n keskimääräinen muutos lähtötasosta vuodessa potilailla, joita hoidettiin 30 kuukauden ajan Galafoldilla, oli -1,72 ml/min/1,73 m2 (95 %:n luottamusväli: -2,653, -0,782; n = 31).
English: c.T402G or c.T402A
Finnish: c.T402G tai c.T402A
English: c.834T>G or c.834T>A
Finnish: c.834T>G tai c.834T>A
English: c.T706C or c.T706A
Finnish: c.T706C tai c.T706A
English: c.G720C or c.G720T
Finnish: c.G720C tai c.G720T
English: c.G978C or c.G978T
Finnish: c.G978C tai c.G978T
English: Diarrhoea Nausea
Finnish: Pahoinvointi Vatsakipu
English: c.G772C or c.G772A
Finnish: c.G772C tai c.G772A
English: c.729G>C or c.729G>T
Finnish: c.729G>C tai c.729G>T
English: c.978G>C or c.978G>T
Finnish: c.978G>C tai c.978G>T
English: c.T784A or c.T784C
Finnish: c.T784A tai c.T784C
English: c.G708C or c.G708T
Finnish: c.G708C tai c.G708T
English: c.G778C or c.G778A
Finnish: c.G778C tai c.G778A
English: c.894T>G or c.894T>A
Finnish: c.894T>G tai c.894T>A
English: c.702T>G or c.702T>A
Finnish: c.702T>G tai c.702T>A
English: c.G729C or c.G729T
Finnish: c.G729C tai c.G729T
English: c.402T>G or c.402T>A
Finnish: c.402T>G tai c.402T>A
English: c.648T>A or c.648T>G
Finnish: c.648T>A tai c.648T>G
English: c.678G>T or c.678G>C
Finnish: c.678G>T tai c.678G>C
English: c.G936T or c.G936C
Finnish: c.G936T tai c.G936C
English: c.G785A or c.G786A
Finnish: c.G785A tai c.G786A
English: c.677G>A or c.678G>A
Finnish: c.677G>A tai c.678G>A
English: c.772G>C or c.772G>A
Finnish: c.772G>C tai c.772G>A
English: c.868A>C or c.868A>T
Finnish: c.868A>C tai c.868A>T
English: c.666C>A or c.666C>G
Finnish: c.666C>A tai c.666C>G
English: c.778G>C or c.778G>A
Finnish: c.778G>C tai c.778G>A
English: • Painful stiff neck
Finnish: • niskalihasten kivulias kiristyminen
English: c.A886T or c.A886C
Finnish: c.A886T tai c.A886C
English: c.785G>A or c.786G>A
Finnish: c.785G>A tai c.786G>A
English: c.72G>C or c.72G>T
Finnish: c.72G>C tai c.72G>T
English: c.G677A or c.G678A
Finnish: c.G677A tai c.G678A
English: c.706T>C or c.706T>A
Finnish: c.706T>C tai c.706T>A
English: Table 2: Galafold (migalastat) amenability table
Finnish: Taulukko 2: Galafold-hoitoon (migalastaatti) vastaavat mutaatiot
English: The second Phase 3 trial (FACETS) was a 6-month randomised double-blind placebo-controlled trial (through month 6) with an 18-month open-label period to evaluate the efficacy and safety of Galafold in 50 male and female patients with Fabry disease who were naïve to ERT, or had previously been on ERT and had stopped for at least 6 months and who have amenable mutations (ERT-naïve trial).
Finnish: Toinen vaiheen 3 tutkimus (FACETS) oli kuuden kuukauden satunnaistettu lumekontrolloitu kaksoissokkotutkimus (kuukauden 6 loppuun), jota seurasi 18 kuukauden avoin jakso.
English: c.G786C or c.G786T
Finnish: c.G786C tai c.G786T
English: c.T702G or c.T702A
Finnish: c.T702G tai c.T702A
English: c.687T>A or c.687T>G
Finnish: c.687T>A tai c.687T>G
English: c.484T>C or c.484T>A
Finnish: c.484T>C tai c.484T>A
English: c.936G>T or c.936G>C
Finnish: c.936G>T tai c.936G>C
English: c.786G>C or c.786G>T
Finnish: c.786G>C tai c.786G>T
English: c.963G>C or c.963G>T
Finnish: c.963G>C tai c.963G>T
English: c.G72C or c.G72T
Finnish: c.G72C tai c.G72T
English: c.886A>T or c.886A>C
Finnish: c.886A>T tai c.886A>C
English: c.A1023C or c.A1023T
Finnish: c.1023A >C tai c.1023A>T c.A1023C tai c.A1023T
English: c.667T>A or c.668G>C
Finnish: c.667T>A tai c.668G>C
English: 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
Finnish: Keskimäärin 3,4 hoitovuoden jälkeen eGFRCKD-EPI:n keskimääräinen muutos vuodessa oli -0,74 ml/min/1,73 m2 (95 %:n luottamusväli: -1,89; 0,40; n=41).
English: Fatigue Pain
Finnish: Väsymys Kipu
English: c.G678T or c.G678C
Finnish: c.G678T tai c.G678C
English: If more than 12 hours has passed you should resume taking Galafold at the next planned dosing day and time according to your every other day dosing schedule.. Do not take two capsules to make up for your missed dose.
Finnish: Mikäli annoksen ottoajasta on kulunut yli 12 tuntia, ota Galafoldia seuraavana suunnitelman mukaisena annoksen ottopäivänä normaaliin aikaan kerran kahdessa päivässä tapahtuvan annostuksen mukaisesti.
English: The GLA mutations amenable and not amenable to treatment with Galafold are listed in Table 2 and Table 3 respectively below.
Finnish: Taulukossa 2 on lueteltu GLA-mutaatiot, jotka vastaavat Galafold-hoitoon, ja taulukossa 3 mutaatiot, jotka eivät vastaa hoitoon.
English: Galafold is not recommended for use in patients with severe renal insufficiency, defined as estimated GFR less than 30 mL/min/1.73m
Finnish: Munuaisten vajaatoiminta määritellään vaikeaksi, kun arvioitu glomerulusten suodatusnopeus (GFR) on alle 30 ml/min/1,73m
English: c.T798A or c.T798G
Finnish: c.T798A tai c.T798G
English: 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).
Finnish: (naisten lähtötason LVMi > 95 g/m ja miesten lähtötason LVMi > 115 g/m2) oli -8,4 (95 %:n luottamusväli: -15,7, 2,6; n = 13), kun potilas sai migalastaattia, ja 4,5 (95 %:n luottamusväli: -10,7, 18,4; n = 5), kun potilas sai entsyymikorvaushoitoa.
English: Protein Sequence change c.290delC
Finnish: Proteiinisekvenssin muutos c.1029_1030delTC
English: Missed dose
Finnish: Annoksen jääminen väliin
English: c.798T>A or c.798T>G
Finnish: c.798T>A tai c.798T>G
English: c.789T>A or c.789T>G
Finnish: c.789T>A tai c.789T>G
English: Protein sequence change c.126G>A or c.126G>C or c.126G>T
Finnish: c.126G>A tai c.126G>C tai c.126G>T