- ICH GCP
- Register voor klinische proeven in de VS.
- Klinische proef NCT00030134
Data Collection in Women With Fabry Disease
A Study to Collect Normative Data in Female Patients With Fabry Disease
This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down fatty substances called glycolipids, does not function properly. The resulting accumulation of glycolipids in various tissues causes arm and leg pain, skin lesions, and problems with the kidneys, heart, nerves, and blood vessels. This protocol does not involve any experimental drug treatments, but participants may be offered enrollment in future studies and registries.
Women 18 years of age and older with Fabry disease who have not had enzyme replacement therapy may participate in this study. Pregnant women are eligible, but may be excluded from certain procedures, such as magnetic resonance imaging (MRI).
Participants will have the following tests and procedures over a 3-day period:
- Personal and family medical history
- Physical, neurological, and eye examinations
- Blood and urine tests
- Electrocardiogram (ECG) to measure electrical activity of the heart
- Echocardiogram (ultrasound) to examine the heart muscles and pumping action
- Magnetic resonance imaging (MRI) to examine the brain. This test uses a magnetic field and radio waves to produce images of the brain. The patient lies in a narrow cylinder (the MRI scanner) during the imaging and may talk with staff at any time during the procedure.
- Magnetic resonance angiogram (MRA) to examine the blood vessels in the head and neck. This procedure is similar to MRI.
- Genotyping to confirm the diagnosis of Fabry disease. DNA from a blood sample will be examined for the gene associated with Fabry disease.
- Skin punch biopsy for microscopic examination of tissue. A piece of skin tissue about 1/8-inch thick is removed with a cookie cutter-like instrument.
Participants will also complete two questionnaires regarding pain and quality of life. They will be asked to stop taking pain medications for 7 days before completing the pain questionnaire, but may resume medications before 7 days if the pain is too intense. The questionnaire will be completed by telephone interview.
Patients will also be asked to keep a diary of pain medications taken for 7 days while on the study.
Studie Overzicht
Toestand
Conditie
Gedetailleerde beschrijving
Studietype
Inschrijving
Contacten en locaties
Studie Locaties
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Maryland
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Bethesda, Maryland, Verenigde Staten, 20892
- National Institute of Neurological Disorders and Stroke (NINDS)
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
- Oudere volwassene
Accepteert gezonde vrijwilligers
Geslachten die in aanmerking komen voor studie
Beschrijving
The patient must provide written informed consent prior to any study-related procedures being performed.
Patients must be 18 years of age or older.
Patients must have signs of symptoms consistent with Fabry disease with no prior treatment with any enzyme replacement therapy for Fabry Disease.
Patients of childbearing potential must have a negative pregnancy test (urine beta-hCG) in order to complete all study tests.
If a patient is pregnant, they may still enter the trial but may not participate in MRI or MRA procedures.
Patients who have received an investigational drug within 30 days prior to study enrollment or received prior treatment with any enzyme replacement therapy for Fabry disease will be excluded.
Patients who have diabetic nephropathy or other confounding renal disorder will be excluded.
Patients who have a clinically significant organic disease or an unstable condition that, in the opinion of the Investigator, would preclude participation in this protocol will be excluded.
Studie plan
Hoe is de studie opgezet?
Medewerkers en onderzoekers
Publicaties en nuttige links
Algemene publicaties
- Ahlmen J, Hultberg B, Brynger H, Sjoblad S, Svalander C. Clinical and diagnostic considerations in Fabry's disease. Acta Med Scand. 1982;211(4):309-12. doi: 10.1111/j.0954-6820.1982.tb01952.x.
- Aivazian AA, Trofimov IB, Seredniakova NI. [Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]. Arkh Patol. 1985;47(7):60-3. Russian.
- Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, Panza JA, Schiffmann R. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke. 2001 Jul;32(7):1559-62. doi: 10.1161/01.str.32.7.1559.
Studie record data
Bestudeer belangrijke data
Studie start
Studie voltooiing
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Schatting)
Updates van studierecords
Laatste update geplaatst (Schatting)
Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Trefwoorden
Aanvullende relevante MeSH-voorwaarden
- Hart-en vaatziekten
- Vaatziekten
- Metabole ziekten
- Cerebrovasculaire aandoeningen
- Hersenziekten
- Ziekten van het centrale zenuwstelsel
- Ziekten van het zenuwstelsel
- Genetische ziekten, aangeboren
- Genetische ziekten, X-gekoppeld
- Metabolisme, aangeboren fouten
- Lysosomale stapelingsziekten
- Stoornissen in het metabolisme van lipiden
- Hersenziekten, Metabool
- Hersenziekten, metabolisch, aangeboren
- Sfingolipidosen
- Lysosomale stapelingsziekten, zenuwstelsel
- Ziekten van de kleine bloedvaten in de hersenen
- Lipidosen
- Lipidenmetabolisme, aangeboren fouten
- De ziekte van Fabry
Andere studie-ID-nummers
- 020116
- 02-N-0116
Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .
Klinische onderzoeken op De ziekte van Fabry
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Shaare Zedek Medical CenterJohannes Gutenberg University MainzVoltooid
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Wuerzburg University HospitalTakedaAanmelden op uitnodigingLysosomale stapelingsziekten | De ziekte van Fabry | Ziekte van Fabry, hartvariant | HCM - Hypertrofische cardiomyopathie | Anderson Fabry-ziekteDuitsland
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Sangamo TherapeuticsAanmelden op uitnodigingDe ziekte van Fabry | Ziekte van Fabry, hartvariantVerenigde Staten, Australië, Verenigd Koninkrijk
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Lysosomal and Rare Disorders Research and Treatment...SanofiOnbekend
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University Hospital, CaenOnbekend
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Academisch Medisch Centrum - Universiteit van Amsterdam...WervingDe ziekte van Fabry | Ziekte van Fabry, hartvariantNederland
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CENTOGENE GmbH RostockVoltooidDe ziekte van Fabry | Anderson-Fabry-ziekte | De ziekte van FabryArgentinië, België, Kroatië, Tsjechië, Denemarken, Frankrijk, Duitsland, Verenigd Koninkrijk
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University Hospital, RouenOnbekendAnderson-Fabry-ziekteFrankrijk
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Taipei Veterans General Hospital, TaiwanSanofiOnbekendZiekte van Fabry, hartvariant
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Amicus Therapeutics France SASActief, niet wervendDe ziekte van Fabry | Anderson Fabry-ziekteFrankrijk