European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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PRESCRIBING INFORMATION: Replagal (agalsidase alfa) 1mg/ml concentrate for solution for infusion. Please read Summary of Product Characteristics (SmPC) before prescribing. Presentation: Concentrate solution for intravenous infusion: vials of 3mls (containing 1ml of concentrate) and 5mls (3.5ml of concentrate). Indication: Replagal (agalsidase alfa) is indicated for long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry Disease (-galactosidase A deficiency). Dose: Replagal is administered at a dose of 0.2mg/kg body weight every other week by intravenous infusion over 40 minutes. Contraindications: Life-threatening hypersensitivity (anaphylactic reaction) to the active substance or any of the excipients. Warnings and precautions: 13.7% of patients treated with Replagal in clinical trials have experienced idiosyncratic infusion-related reactions. Overall, the percentage of infusion-related reactions was significantly lower in females than males. The most common symptoms have been rigors, headache, nausea, pyrexia, flushing and fatigue. Serious infusion reactions have been reported uncommonly; symptoms reported include pyrexia, rigors, tachycardia, urticaria, nausea/vomiting, angioneurotic oedema with throat tightness, stridor and swollen tongue. The onset of infusion-related reactions has generally occurred within the first 2-4 months after initiation of treatment with Replagal although later onset (after 1 year) has been reported as well. If mild or moderate acute infusion reactions occur, medical attention must be sought immediately and appropriate actions instituted. The infusion can be temporarily interrupted (5 to 10 minutes) until symptoms subside and the infusion may then be restarted. Mild and transient effects may not require medical treatment or discontinuation of the infusion. In addition, oral or intravenous pre-treatment with antihistamines and/ or corticosteroids, from 1 to 24 hours prior to infusion may prevent subsequent reactions in those cases where symptomatic treatment was required. As with any intravenous protein product, allergic-type hypersensitivity reactions are possible. If severe allergic or anaphylactic-type reactions occur, the administration of Replagal should be discontinued immediately and appropriate treatment initiated. The current medical standards for emergency treatment are to be observed. As with all protein pharmaceutical products, patients may develop IgG antibodies to the protein. A low titre IgG antibody response has been observed in approximately 24% of the male patients treated with Replagal. These IgG antibodies appeared to develop following approximately 3-12 months of treatment. After 12 to 54 months of therapy, 17% of Replagal treated patients were still antibody positive whereas 7% showed evidence for the development of immunologic tolerance, based on the disappearance of IgG antibodies over time. The remaining 76% remained antibody negative throughout. No IgE antibodies have been detected in any patient receiving Replagal. The presence of extensive renal damage may limit the renal response to enzyme replacement therapy, possibly due to underlying irreversible pathological changes. In such cases, the loss of renal function remains within the expected range of the natural progression of disease. Paediatrics: Experience in children is limited. Studies in children (0-6 years old) have not been performed and no dosage regimen can presently be recommended. Limited clinical data in children (7-18 years) do not permit recommendation of an optimal dosage regimen presently. As no unexpected safety issues were encountered in a six-month study with Replagal administered at 0.2mg/kg, this dose is suggested for children between 7-18 years. Pregnancy and lactation: Very limited data on pregnancies exposed to Replagal (n=3) have shown no adverse effects on the mother and newborn child. Animal studies do not indicate direct or indirect harmful effects with respect to pregnancy or embryonal/foetal development when exposed during organogenesis. It is not known whether Replagal is excreted in human milk. Caution should be exercised when prescribing to pregnant or nursing women. Interactions: Replagal should not be co-administered with chloroquine, amiodarone, benoquin or gentamicin since these substances have the potential to inhibit intra-cellular -galactosidase activity. As -galactosidase A is itself an enzyme, it would be an unlikely candidate for cytochrome P450 mediated drug-drug interactions. In clinical studies, neuropathic pain medicinal products (such as carbamazepine, phenytoin and gabapentin) were administered concurrently to most patients without any evidence of interaction. Side effects: The most commonly reported undesirable effects were infusion associated reactions, which occurred in 13.7% of patients treated with Replagal in clinical trials. Most undesirable effects were mild to moderate in severity. The following AEs have been reported: peripheral oedema, headache, dizziness, dysgeusia, neuropathic pain, tremor, hypersomnia, hypoesthesia, paraesthesia, parosmia, lacrimation increased, tinnitus, tinnitus aggravated, tachycardia, palpitations, flushing, hypertension, cough, hoarseness, throat tightness, dyspnoea, nasopharyngitis, pharyngitis, throat secretion increased, rhinorrhoea, nausea, diarrhoea, vomiting, abdominal pain/discomfort, acne, erythema, pruritus, rash, livedo reticularis, angioneurotic oedema, urticaria, musculoskeletal discomfort, myalgia, back pain, limb pain, peripheral swelling, arthralgia, joint swelling, sensation of heaviness, rigors, pyrexia, pain and discomfort, fatigue, fatigue aggravated, feeling hot, feeling cold, asthenia, chest pain, chest tightness, influenza like illness, injection site rash, malaise, corneal reflex decreased, oxygen saturation decreased. Overdosage: No case of overdose has been reported. Pharmaceutical precautions: Store in a refrigerator (2°C – 8°C). Legal category: POM. Pack sizes, Product Licence Numbers and Cost: 1ml of concentrate for solution for infusion in a 3ml vial. Pack sizes of 1, 4 or 10 vials. 3.5ml of concentrate for solution for infusion in a 5ml vial. Pack sizes of 1, 4 or 10 vials. EU/1/01/189/001-006. Price of £356.85 for 3ml and £1161.57 for 5ml vials. Further information available from Product Licence Holder: Shire Human Genetic Therapies AB, Rinkebyvägen 11B, SE 182 36 Danderyd, Sweden. Adverse events should be reported to the Yellow Card Scheme. Information about adverse event reporting via this scheme can be found at www.yellowcard.gov.uk. Adverse events should also be reported to Shire Human Genetic Therapies on + 44 (0)1223 422707 or faxed on +44 (0)1223 424666. Date of Preparation: 06 September 06. Item code: RePIv060906
A natural choice in Fabry Disease Prescribing information is available on page 392 Re-06-007
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Normal variation, population geneti
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Page 343 and 344: Genetic counselling, education, gen
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Page 347 and 348: Therapy for genetic disease Po10. T
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Page 353 and 354: Author Index 1 Arslan-Krichner, M.:
Page 355 and 356: Author Index Borkowska, A.: P1089 B
Page 357 and 358: Author Index Coviello, D.: P0078, P
Page 359 and 360: Author Index Estivill, X.: P1216, P
Page 361 and 362: Author Index Graf, S. A.: P0021 Gra
Page 363 and 364: Author Index 1 Josifiova, D.: PL07
Page 365 and 366: Author Index Laurier, V.: C03 Lauri
Page 367 and 368: Author Index Melo, D. G.: P0260, P0
Page 369 and 370: Author Index Osorio, P.: P0218 Osta
Page 371 and 372: Author Index Reese, T.: C06 Regal,
Page 373 and 374: Author Index 1 Shaposhnikov, S.: P0
Page 375 and 376: Author Index Touitou, I.: P0733 Tou
Page 377 and 378: Author Index Xiao, C.: P1241 Xie, G
Page 379 and 380: Keyword Index ARMR: P0907 array CGH
Page 381 and 382: Keyword Index Consanguineous marria
Page 383 and 384: Keyword Index 1 Fronto-temporal dem
Page 385 and 386: Keyword Index IRF5: P1086 IRF6: P07
Page 387 and 388: Keyword Index NBS1 gene: P0567 NBS-
Page 389 and 390: Keyword Index P1085 Rep1: P1104 rep
Page 391 and 392: Keyword Index vision: P0632 Vitamin
Page 393: Notes 1
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European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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