Lysomale Speichererkankung
Der Skorpion
Morbus Fabry
M. Fabry ist eine X-chromosomal vererbte lysosomale Speichererkrankung, die auf der Defizienz des Enzyms Alpha-Galaktosidase A beruht. Diese führt zu einer Akkumulation von Globotriaosyl-Ceramid (Gb3) in den Zellen verschiedener Organe. Das klinische Bild des M. Fabry ist sehr heterogen und reicht von leichten Verläufen eher bei heterozygoten Frauen bis zu schweren Verläufen bei klassisch betroffenen Männern. Charakteristische Symptome sind Akroparästhesien, kardiale Symptome einhergehend mit einer Kardiomyopathie und Arrhythmien, eine progrediente Niereninsuffizienz und zerebro-vaskuläre Komplikationen (Schlaganfälle). Eine typische Augenmanifestation ist die Cornea verticillata. Therapeutisch stehen aktuell 3 Medikamente zur Verfügung: Enzymersatztherapien mit Agalsidase alfa oder Agalsidase beta oder eine Chaperontherapie mit Migalastat. Migalastat ist jedoch nur für Patienten mit bestimmten Genmutationen geeignet.
Synonym: Fabry-Anderson-Krankheit
Ätiologie: Defizienz der alfa-Galaktosidase A
Gen: GLA-Gen
Vererbungsmodus: X-Chromosomal
Leitsymptome:
- Akroparästhesien
- Kardiomyopathie, Arrhythmien
- Proteinurie, Niereninsuffizienz
- Schlaganfälle
- Angiokeratome
- Cornea verticillata
Diagnostik:
- Messung der Aktivität der alfa-Galaktosidase A (Cave: Aktivität der alfa-Galaktosidase A kann beim weiblichen Geschlecht normal sein) im Blut
- Molekulargenetische Analyse des GLA-Gens
Therapien:
- Agalsidase alfa (Replagal®)
- Agalsidase beta (Fabrazyme®)
- Migalastat (Galafold®): nur für Patienten mit bestimmten Genmutationen
Aktuelle Studien
M. Fabry
Modify
Eine multizentrische, doppelblinde, randomisierte, placebo-kontrollierte ParallelgruppenStudie zur Untersuchung der Wirksamkeit und Sicherheit der oralen LucerastatMonotherapie bei erwachsenen Patienten mit Morbus Fabry.
Alter
> 18 Jahre
Status Aktiv
Patientenaufnahme abgeschlossen
Institution SphinCS GmbH
Medikamenten-Studie
M. Fabry
PERIDOT_EFC17045
Eine randomisierte, doppel-blinde, Placebo-kontrollierte, 12-monatige Phase 3 Studie zur Evaluierung des Effekts von Venglustat bei neuropathischen und abdominalen Schmerzen bei männlichen und weiblichen Erwachsenen mit Morbus Pompe, die noch nie oder für mindestens 6 Monate nicht behandelt wurden
Alter
≥16 Jahre
Status Aktiv
Patientenaufnahme rekrutierend
Institution SphinCS GmbH
Medikamenten-Studie
M. Fabry
CARAT_EFC16158
Eine randomisierte, offene, 18-monatige Phase-III-Parallelgruppen-Studie
zur Bewertung der Wirkung von Venglustat im Vergleich zur üblichen Standardbehandlung auf den linksventrikulären Massenindex bei Teilnehmern mit Morbus
Fabry und linksventrikulärer Hypertrophie
Alter
18 bis 65 Jahre
Status Aktiv
Patientenaufnahme rekrutierend
Institution SphinCS GmbH
Medikamenten-Studie
Die "U.S. National Library of Medicine" bietet unter www.clinicaltrials.gov eine vollständige Liste aller internationalen Studien. Die vergleichbare Website der EU ist nicht ganz so umfassend: www.clinicaltrialsregister.eu.
Selbsthilfegruppen
Morbus Fabry Selbsthilfegruppe e.V.
https://fabry-shg.org/
Zur Zeit sind uns keine Selbsthilfegruppen bekannt.
Literatur
Morbus Fabry - Aktuelle Therapeutische Perspektiven
Dtsch Ärztebl 98;A, no. 8 (2001): 466-8
Anderson-Fabry Disease in Children and Adolescents
Contrib Nephrol, no. 136 (2001): 251-5.
Angiokeratoma and Pain, but Not Fabry's Disease: Considerations for Differential Diagnosis
Contrib Nephrol, no. 136 (2001): 256-9
Neurological Manifestation of Fabry Disease in Females
Contrib Nephrol, no. 136 (2001): 241-4
Anderson-Fabry Disease: Clinical Manifestations of Disease in Female Heterozygotes
J Inherit Metab Dis 24, no. 7 (Dec 2001): 715-24.
Clinical Manifestation in Female Fabry Disease Patients
Contrib Nephrol, no. 136 (2001): 245-50.
Agalsidase Alfa--a Preparation for Enzyme Replacement Therapy in Anderson-Fabry Disease
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Cardiac Involvement in Anderson-Fabry Disease
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In Metabolic Cardiomyopathy, edited by H. Böhles and A. C. Sewell, 123 - 27. Stuttgart: medpharm, 2004.
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The Mainz Severity Score Index: A New Instrument for Quantifying the Anderson-Fabry Disease Phenotype, and the Response of Patients to Enzyme Replacement Therapy
Clin Genet 65, no. 4 (Apr 2004): 299-307.
White Matter Lesion Severity in Male and Female Patients with Fabry Disease
Neurology 65, no. 4 (Aug 23 2005): 600-2.
Effects of Enzyme Replacement Therapy on Pain and Health Related Quality of Life in Patients with Fabry Disease: Data from Fos (Fabry Outcome Survey)
J Med Genet 42, no. 3 (Mar 2005): 247-52.
The Right Ventricle in Fabry Disease
Acta Paediatr Suppl 94, no. 447 (Mar 2005): 15-8; discussion 9-10.
Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
The Ratio of Alpha-Galactosidase to Beta-Glucuronidase Activities in Dried Blood for the Identification of Female Fabry Disease Patients
J Inherit Metab Dis 28, no. 5 (2005): 803-5.
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Thirty-Four Novel Mutations of the Gla Gene in 121 Patients with Fabry Disease
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Successful Pregnancy Outcome in a Patient with Fabry Disease Receiving Enzyme Replacement Therapy with Agalsidase Alfa
J Inherit Metab Dis 28, no. 5 (Jan 2005): 787-8.
Natural History of Fabry Disease in Females in the Fabry Outcome Survey
J Med Genet 43, no. 4 (Apr 2006): 347-52.
Pattern of Microstructural Brain Tissue Alterations in Fabry Disease : A Diffusion-Tensor Imaging Study
J Neurol 253, no. 6 (Jun 2006): 780-7.
Agalsidase Alpha and Hearing in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 663-7.
Hearing Loss in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 654-62.
Prevalence of Uncontrolled Hypertension in Patients with Fabry Disease
Am J Hypertens 19, no. 8 (Aug 2006): 782-7.
Hyperhidrosis: A New and Often Early Symptom in Fabry Disease. International Experience and Data from the Fabry Outcome Survey
Int J Clin Pract 60, no. 9 (Sep 2006): 1053-9.
Recurrent Brief Depression in a Female Patient with Fabry Disease
Bipolar Disord 8, no. 4 (Aug 2006): 418-9.
Pathophysiological Aspects of Brain Structural Disturbances in Patients with Fabry Disease: Literature Review
Fortschr Neurol Psychiatr 74, no. 12 (Dec 2006): 687-95.
Clinical Manifestations of Fabry Disease in Children: Data from the Fabry Outcome Survey
Acta Paediatr 95, no. 1 (Jan 2006): 86-92.
Enzyme-Replacement Therapy with Agalsidase Alfa in Children with Fabry Disease
Pediatrics 118, no. 3 (Sep 2006): 924-32.
An Association Study of Inflammatory Cytokine Gene Polymorphisms in Fabry Disease
Eur Cytokine Netw 17, no. 4 (Dec 2006): 271-5.
Enzyme Replacement Therapy and Renal Function in 201 Patients with Fabry Disease
Clin Nephrol 66, no. 2 (Aug 2006): 77-84.
Iga Nephropathy in Two Adolescent Sisters Heterozygous for Fabry Disease
Pediatr Nephrol 21, no. 9 (Sep 2006): 1251-6.
Voxel Based Analyses of Diffusion Tensor Imaging in Fabry Disease
J Neurol Neurosurg Psychiatry 78, no. 9 (Sep 2007): 964-9.
New Therapeutic Options for Lysosomal Storage Disorders: Enzyme Replacement, Small Molecules and Gene Therapy
Hum Genet 121, no. 1 (Mar 2007): 1-22.
Fabry Disease: Demographic Data since Introduction of Enzyme Replacement Therapy
Dtsch Med Wochenschr 132, no. 28-29 (Jul 5 2007): 1505-9.
Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy--a Retrospective Analysis from the Fabry Outcome Survey
Clin J Pain 23, no. 6 (Jul-Aug 2007): 535-42.
Cardiac Manifestations of Anderson-Fabry Disease: Results from the International Fabry Outcome Survey
Eur Heart J 28, no. 10 (May 2007): 1228-35.
Direct Comparison of Enzyme Measurements from Dried Blood and Leukocytes from Male and Female Fabry Disease Patients
J Inherit Metab Dis 30, no. 4 (Aug 2007): 614.
Fabry Disease and the Skin: Data from Fos, the Fabry Outcome Survey
Br J Dermatol 157, no. 2 (Aug 2007): 331-7.
Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents
J Clin Pharmacol 47, no. 10 (Oct 2007): 1222-30.
Ocular Manifestations of Fabry's Disease: Data from the Fabry Outcome Survey
Br J Ophthalmol 91, no. 2 (Feb 2007): 210-4.
Correlation between Interleukin-6 Promoter and C-Reactive Protein (Crp) Polymorphisms and Crp Levels with the Mainz Severity Score Index for Fabry Disease
J Inherit Metab Dis 31, no. 1 (Feb 2008): 117-23.
Fabry Disease - Complex Clinical Picture, Simple Diagnosis Procedure, Causal Treatment
Dtsch Med Wochenschr 133, no. 39 (Sep 2008): 1965-72; quiz 73-4.
Onset and Progression of the Anderson-Fabry Disease Related Cardiomyopathy
Int J Cardiol 130, no. 3 (Nov 28 2008): 367-73.
Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Enzyme Replacement Therapy in Fabry Disease: Comparison of Agalsidase Alfa and Agalsidase Beta
Mol Genet Metab 95, no. 1-2 (Sep-Oct 2008): 114-5
Association between Polymorphisms of Endothelial Nitric Oxide Synthase Gene (Nos3) and Left Posterior Wall Thickness (Lpwt) of the Heart in Fabry Disease
J Inherit Metab Dis 31, no. 6 (Oct 22 2008): 773.
Genetic Polymorphisms of Vitamin D Receptor (Vdr) in Fabry Disease
Genetica 134, no. 3 (Nov 2008): 377-83.
Downregulation of a-Galactosidase a Upregulates Cd77: Functional Impact for Fabry Nephropathy
Kidney Int 75, no. 4 (2008): 399-407.
Agalsidase Alfa for the Treatment of Fabry Disease: New Data on Clinical Efficacy and Safety
Expert Opin Biol Ther 9, no. 2 (Feb 2009): 255-61.
Diagnostic Utility of Different Mri and Mr Angiography Measures in Fabry Disease
Neurology 72, no. 1 (Jan 6 2009): 63-8.
Enzyme Replacement Therapy with Agalsidase Alfa in Pregnant Women with Fabry Disease
Eur J Obstet Gynecol Reprod Biol 144, no. 1 (May 2009): 92-3.
Enzyme Replacement Therapy with Agalsidase Alfa in Patients with Fabry's Disease: An Analysis of Registry Data
Lancet 374, no. 9706 (Dec 12 2009): 1986-96.
Natural Course of Fabry Disease: Changing Pattern of Causes of Death in Fos - Fabry Outcome Survey
J Med Genet 46, no. 8 (Aug 2009): 548-52.
Fabry Disease in Children and the Effects of Enzyme Replacement Treatment
Eur J Pediatr 168, no. 11 (Nov 2009): 1355-63.
Effect of Enzyme Replacement Therapy (Ert) on Renal Function of Patients with Fabry's Disease
Med Klin (Munich) 104, no. 9 (Sep 15 2009): 699-703.
Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
J Am Soc Nephrol 20, no. 5 (May 2009): 1132-9.
A 4-Year Study of the Efficacy and Tolerability of Enzyme Replacement Therapy with Agalsidase Alfa in 36 Women with Fabry Disease
Genet Med 11, no. 6 (Jun 2009): 441-9.
A Validated Disease Severity Scoring System for Fabry Disease
Mol Genet Metab 99, no. 3 (Mar 2010): 283-90.
Determination of Globotriaosylceramide in Plasma and Urine by Mass Spectrometry
Clin Chem Lab Med 48, no. 2 (Feb 2010): 189-98.
Fabry Disease: A Review of Current Management Strategies
Qjm 103, no. 9 (September 1, 2010 2010): 641-59.
Paraoxonase (Pon1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease
Nephron Clinical Practice 116, no. 4 (2010): c289-c93.
Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (Fos)
Value Health 14, no. 6 (Sep-Oct 2011): 862-6. Accessed 2011/10//
Safety of Agalsidase Alfa in Patients with Fabry Disease under 7 Years
Acta Paediatr 100, no. 4 (Apr 2011): 605-11.
Neuropsychiatric Symptoms and Brain Structural Alterations in Fabry Disease
Eur J Neurol 18, no. 2 (Feb 2011): 347-53.
Clinical Utility Gene Card For: Fabry Disease
Eur J Hum Genet 20, no. 2 (Feb 2012).
Quantification of the Fabry Marker Lysogb3 in Human Plasma by Tandem Mass Spectrometry
J Chromatogr B Analyt Technol Biomed Life Sci 883-884 (Feb 1 2012): 128-35.
abry Disease in Children and Response to Enzyme Replacement Therapy: Results from the Fabry Outcome Survey
Clin Genet 81, no. 5 (May 2012): 485-90.
Measuring Patient Experiences in Fabry Disease: Validation of the Fabry-Specific Pediatric Health and Pain Questionnaire (Fphpq)
Health Qual Life Outcomes 10, no. 1 (Sep 20 2012): 116.
Home-Based Infusion Therapy--a Feasible Approach for Chronically Ill Patients? A New Path to Provide Superior Patient Care Exemplified for Fabry's Disease
Dtsch Med Wochenschr 138, no. 46 (Nov 2013): 2345-50.
Successful Long-Term Enzyme Replacement Therapy in a Young Adult with Fabry Disease
Clin Genet 83, no. 4 (Apr 2013): 395-6.
Long-Term Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: A Fabry Outcome Survey Analysis
Mol Genet Metab Rep 3, no. 0 (Jun 2015): 21-7.
Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: Cardiac Outcomes after 10 Years' Treatment
Orphanet J Rare Dis 10 (2015): 125.
Eight-Year Follow-up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease
PLoS ONE 10, no. 9 (2015): e0137603.
Thromboembolic Events in Fabry Disease and the Impact of Factor V Leiden
Neurology 84, no. 10 (Mar 10 2015): 1009-16.
Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
PLoS ONE 10, no. 3 (2015): e0120814.
A 15-Year Perspective of the Fabry Outcome Survey
Journal of Inborn Errors of Metabolism and Screening 4 (2016): 2326409816666298.
Paediatric Fabry Disease: Prognostic Significance of Ocular Changes for Disease Severity
BMC Ophthalmol 16, no. 1 (Nov 16 2016): 202.
Clinical Utility Gene Card For: Fabry Disease - Update 2016
Eur J Hum Genet 25, no. 7 (Jun 2017): e1-e3.
Comment: Why Are Females with Fabry Disease Affected?
Mol Genet Metab Rep 21 (Dec 2019): 100529.
Cardio- Renal Outcomes with Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (Fos) Analysis
Drug design, development and therapy 13 (2019): 3705-15.
Standardising Clinical Outcomes Measures for Adult Clinical Trials in Fabry Disease: A Global Delphi Consensus
Mol Genet Metab (Feb 20 2021).
Zur Zeit liegt uns keine Literatur vor.