Lægespecialister fra Canada tagget som efterforskere i kliniske forsøg, der studerer Refsum sygdom
I alt 1 resultater
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Nancy E Braverman, MD, MSSet i:
- Quebec, Montreal, Frederique Arnaud
- Quebec, Montreal, Research Institute of the McGill University Health Center
Forsøg:- NCT01668186 (Ledende efterforsker)
- NCT06190626 (Ledende efterforsker)
Betingelser:- Peroxisom biogenese lidelse;
- Zellwegers spektrumforstyrrelse;
- RCDP - Rhizomelic Chondrodysplasia Punctata;
- D-bifunktionel proteinmangel;
- Alpha-Methylacyl-CoA Racemase mangel;
- Peroxisomal Acyl-CoA Oxidase mangel;
- Peroxisomal Acyl-CoA Oxidase 2-mangel;
- ATP Binding Cassette Underfamilie D Medlem 3 Genmutation;
- ACBD5 (AcylCoA Binding Domain 5) mangel;
- Voksen Refsum sygdom;
- Sterol Carrier Protein 2 mangel
Kliniske forsøg med Refsum sygdom
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Mirum Pharmaceuticals, Inc.Children's Hospital Medical Center, CincinnatiAfsluttetKolestase | Peroxisomale lidelser | Adrenoleukodystrofi | Zellwegers syndrom | Infantil Refsums SygdomForenede Stater
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University of CincinnatiChildren's Hospital Medical Center, CincinnatiAfsluttetAdrenoleukodystrofi | Zellwegers syndrom | Infantil Refsums Sygdom | Bifunktionel enzymmangel
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Masonic Cancer Center, University of MinnesotaRekrutteringHurler syndrom | Sphingolipidoser | Peroxisomale lidelser | Metakromatisk leukodystrofi | Alpha-Mannosidose | Hunters syndrom | Mucopolysaccharidosis lidelser | Maroteaux Lamy syndrom | Sly Syndrom | Fucosidosis | Aspartylglucosaminuri | Glycoprotein metaboliske forstyrrelser | Recessive leukodystrofier | Globoidcelle... og andre forholdForenede Stater
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McGill University Health Centre/Research Institute...RekrutteringPeroxisom biogenese lidelse | Zellwegers spektrumforstyrrelse | RCDP - Rhizomelic Chondrodysplasia Punctata | D-bifunktionel proteinmangel | Alpha-Methylacyl-CoA Racemase mangel | Peroxisomal Acyl-CoA Oxidase mangel | Peroxisomal Acyl-CoA Oxidase 2-mangel | ATP Binding Cassette Underfamilie D Medlem... og andre forholdCanada
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Neurogene Inc.AfsluttetCharcot-Marie-Tooth sygdom | Arvelig motorisk og sensorisk neuropati IVForenede Stater
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Foundation Fighting BlindnessRekrutteringRetinitis Pigmentosa | Choroideræmi | Usher syndrom | Battens sygdom | Leber medfødt amaurose | Goldmann-Favre syndrom | Kearns-Sayre syndrom | Nethindesygdom | Bardet-Biedl syndrom | Stargardts sygdom | Kegledystrofi | Retinoschisis | Achromatopsi | Gyrate Atrofi | Øjensygdomme arvelig | Bassen-Kornzweig syndrom | Bedste sygdom | Koroidal dystrofi og andre forholdForenede Stater
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Children's Hospital of PhiladelphiaEli Lilly and Company; University of Pennsylvania; Takeda; National Institute... og andre samarbejdspartnereRekrutteringMucopolysaccharidoser | Leukoencefalopati | Leukodystrofi | Adrenoleukodystrofi | Adrenomyeloneuropati | X-bundet adrenoleukodystrofi | Gangliosidoser | Metakromatisk leukodystrofi | Krabbes sygdom | Refsum sygdom | Cadasil | Sjögren-Larsson syndrom | Allan-Herndon-Dudley syndrom | Hvidstof sygdom | GM2 Gangliosidosis | Zellwegers... og andre forholdForenede Stater
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Hereditary Neuropathy FoundationRekrutteringCharcot-Marie-Tooth sygdom | Charcot-Marie-Tooth sygdom, type IA | Charcot-Marie-Tooth sygdom type 2A | Charcot-Marie-Tooth | Charcot-Marie-Tooth sygdom, type IB | Charcot-Marie-Tooth sygdom type 2 | Charcot-Marie-Tooth sygdom, type 2C | Charcot-Marie-Tooth sygdom type 2A2B | Charcot-Marie-Tooth sygdom... og andre forholdForenede Stater
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Children's Hospital of PhiladelphiaIllumina, Inc.Aktiv, ikke rekrutterendeMucopolysaccharidoser | Leukodystrofi | Adrenoleukodystrofi | Adrenomyeloneuropati | X-bundet adrenoleukodystrofi | Gangliosidoser | Metakromatisk leukodystrofi | Krabbes sygdom | Refsum sygdom | Cadasil | Sjögren-Larsson syndrom | Allan-Herndon-Dudley syndrom | Hvidstof sygdom | GM2 Gangliosidosis | Zellwegers syndrom | ALSP | Pelizaeus-Merzbachers sygdom og andre forholdForenede Stater
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins... og andre samarbejdspartnereRekrutteringMitokondrielle sygdomme | Retinitis Pigmentosa | Myasthenia gravis | Eosinofil gastroenteritis | Multipel systematrofi | Leiomyosarkom | Leukodystrofi | Anal fistel | Spinocerebellar ataksi type 3 | Friedreich Ataxia | Kennedys sygdom | Lyme sygdom | Hæmofagocytisk lymfohistiocytose | Spinocerebellar ataksi type 1 | Spinocerebellar... og andre forholdForenede Stater, Australien