- Trials with a EudraCT protocol (22)
- Paediatric studies in scope of Art45 of the Paediatric Regulation (0)
22 result(s) found for: Autosomal recessive gene.
Displaying page 1 of 2.
EudraCT Number: 2017-004783-35 | Sponsor Protocol Number: OPH2005 | Start Date*: 2018-07-10 | |||||||||||
Sponsor Name:IVERIC bio | |||||||||||||
Full Title: A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects with Autosomal Recessive Stargardt Disease | |||||||||||||
Medical condition: Autosomal Recessive Stargardt Disease | |||||||||||||
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Population Age: Adults | Gender: Male, Female | ||||||||||||
Trial protocol: DE (Ongoing) GB (GB - no longer in EU/EEA) HU (Completed) ES (Ongoing) IT (Completed) | |||||||||||||
Trial results: (No results available) |
EudraCT Number: 2015-004592-74 | Sponsor Protocol Number: HOLOGENE7(HTA-HG7-01) | Start Date*: 2016-06-01 |
Sponsor Name:Holostem Terapie Avanzate s.r.l. | ||
Full Title: PROSPECTIVE, OPEN LABEL, UNCONTROLLED CLINICAL TRIAL TO ASSESS THE SAFETY AND EFFICACY OF AUTOLOGOUS CULTURED EPIDERMAL GRAFTS CONTAINING EPIDERMAL STEM CELLS GENETICALLY MODIFIED WITH A GAMMA-RETR... | ||
Medical condition: RDEB is characterized by generalized skin blistering, erosions, crusts, atrophic scarring, onychodystrophy and loss of nails, mutilating pseudosyndactyly of hands and feet, as well as oral cavity l... | ||
Disease: | ||
Population Age: Children, Adolescents, Under 18, Adults | Gender: Male, Female | |
Trial protocol: AT (Prematurely Ended) | ||
Trial results: (No results available) |
EudraCT Number: 2016-000095-17 | Sponsor Protocol Number: HOLOGENE17 | Start Date*: 2017-08-17 |
Sponsor Name:Holostem Terapie Avanzate s.r.l. | ||
Full Title: PROSPECTIVE, OPEN-LABEL, UNCONTROLLED CLINICAL TRIAL TO ASSESS THE SAFETY AND EFFICACY OF AUTOLOGOUS CULTURED EPIDERMAL GRAFTS CONTAINING EPIDERMAL STEM CELLS GENETICALLY MODIFIED WITH A GAMMA-RETR... | ||
Medical condition: JEB is genetically and clinically heterogeneous characterized by mutations in COL17A1,encoding for Collagen17 protein. COLXVII is a collagenous transmembrane type II protein component of the hemide... | ||
Disease: | ||
Population Age: Children, Adolescents, Under 18, Adults | Gender: Male, Female | |
Trial protocol: AT (Prematurely Ended) | ||
Trial results: (No results available) |
EudraCT Number: 2010-021343-41 | Sponsor Protocol Number: ME040 | Start Date*: 2014-03-21 |
Sponsor Name:University Medical Center Groningen | ||
Full Title: Effect of sapropterin on variations of blood phenylalanine and tyrosine over 24 hours and from day to day in children with phenylketonuria | ||
Medical condition: Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. Left untreated, the ... | ||
Disease: | ||
Population Age: Children, Adolescents, Under 18 | Gender: Male, Female | |
Trial protocol: NL (Ongoing) | ||
Trial results: (No results available) |
EudraCT Number: 2007-003357-85 | Sponsor Protocol Number: FRI200701 | Start Date*: 2007-10-10 | |||||||||||
Sponsor Name:ISTITUTO NEUROLOGICO "CARLO BESTA" | |||||||||||||
Full Title: Randomized placebo-controlled double-blind trial to assess safety and efficacy of erythropoietin in adult patients with Friedreich's ataxia (a pilot study) | |||||||||||||
Medical condition: Friedreich ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder caused a mutation in the FXN gene, which encodes a protein named frataxin. As a result of the mutation, frataxin is... | |||||||||||||
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Population Age: Adults | Gender: Male, Female | ||||||||||||
Trial protocol: IT (Completed) | |||||||||||||
Trial results: (No results available) |
EudraCT Number: 2018-002579-16 | Sponsor Protocol Number: CF001 | Start Date*: 2018-08-26 | |||||||||||
Sponsor Name:Karolinska University Hospital, Stockholm CF center | |||||||||||||
Full Title: Evaluation of the possible use of analysis of posaconazole in exhaled breath as a surrogate marker for the lung to monitor adequate dosages of posaconazole in CF patients treated for Aspergillus sp... | |||||||||||||
Medical condition: Cystic Fibrosis (CF) is the most common life–limiting autosomal recessive disease among people of European heritage. The condition is a result of a mutation in the cystic fibrosis transmembrane con... | |||||||||||||
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Population Age: Adults | Gender: Male, Female | ||||||||||||
Trial protocol: SE (Ongoing) | |||||||||||||
Trial results: (No results available) |
EudraCT Number: 2022-003265-38 | Sponsor Protocol Number: PTC743-NEU-005-FA | Start Date*: 2022-10-22 |
Sponsor Name:PTC Therapeutics, Inc. | ||
Full Title: An Open-Label Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Vatiquinone in Children With Friedreich Ataxia Younger Than 7 Years of Age | ||
Medical condition: Friedreich Ataxia | ||
Disease: | ||
Population Age: Children, Under 18 | Gender: Male, Female | |
Trial protocol: Outside EU/EEA | ||
Trial results: (No results available) |
EudraCT Number: 2008-000040-13 | Sponsor Protocol Number: 21011075118 | Start Date*: 2009-02-11 |
Sponsor Name:Medizinische Universität Innsbruck, Univ.-Klinik für Neurologie | ||
Full Title: Effects of recombinant human Erythropoietin on circulating and intramuscular endothelial progenitor cells, neovascularisation and oxidative metabolism of skeletal muscle in Friedreich’s Ataxia | ||
Medical condition: Friedreich's ataxia (FRDA) is the most common autosomal recessive neurodegenerativ disease (1:50 000) affecting the central and peripheral nervous system. Extraneural organs are also affected durin... | ||
Disease: | ||
Population Age: | Gender: Male, Female | |
Trial protocol: AT (Completed) | ||
Trial results: View results |
EudraCT Number: 2013-001600-11 | Sponsor Protocol Number: MP4CO-13-SCD-206 | Start Date*: 2013-09-25 |
Sponsor Name:Sangart, Inc. | ||
Full Title: A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects with Sickle Cell Disease | ||
Medical condition: Sickle cell disease (SCD) is an autosomal recessive disorder of the β globin gene of the hemoglobin molecule. One single point mutation results in a lifetime of chronic morbidity and mortality. Vas... | ||
Disease: | ||
Population Age: Adolescents, Under 18, Adults, Elderly | Gender: Male, Female | |
Trial protocol: GB (Prematurely Ended) BE (Prematurely Ended) | ||
Trial results: (No results available) |
EudraCT Number: 2016-001955-29 | Sponsor Protocol Number: 024PKAN15004 | Start Date*: Information not available in EudraCT | |||||||||||
Sponsor Name:Retrophin, Inc. | |||||||||||||
Full Title: Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), a Phosphopantothenate replacement therapy, in patients with Pantothenate Kinase-associated Neurodegeneration (PKAN): A Randomized, ... | |||||||||||||
Medical condition: Pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive genetic disorder, the most common form of Neurodegeneration with Brain Iron Accumulation (NBIA). It is a progressive,... | |||||||||||||
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Population Age: Children, Adolescents, Under 18, Adults | Gender: Male, Female | ||||||||||||
Trial protocol: DE (Completed) ES (Prematurely Ended) GB (Prematurely Ended) CZ (Prematurely Ended) NO (Completed) FR (Completed) PL (Prematurely Ended) IT (Prematurely Ended) | |||||||||||||
Trial results: View results |
EudraCT Number: 2020-001109-22 | Sponsor Protocol Number: PBGM01-001 | Start Date*: Information not available in EudraCT |
Sponsor Name:Passage Bio, Inc. | ||
Full Title: A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered into the Cisterna Magna of Pediatric Su... | ||
Medical condition: GM1 gangliosidosis (GM1) is an autosomal recessive disorder that results from mutations in the human galactosidase beta 1 gene (GLB1), which encodes beta-galactosidase (β-gal). | ||
Disease: | ||
Population Age: Infants and toddlers, Under 18 | Gender: Male, Female | |
Trial protocol: GB (GB - no longer in EU/EEA) | ||
Trial results: (No results available) |
EudraCT Number: 2016-002696-10 | Sponsor Protocol Number: CCPK850X2202 | Start Date*: 2018-05-09 | |||||||||||
Sponsor Name:Novartis Pharma AG | |||||||||||||
Full Title: An open-label first-in-human single ascending dose study to explore the safety, tolerability and efficacy of subretinal administration of CPK850 gene therapy in patients with retinitis pigmentosa c... | |||||||||||||
Medical condition: retinitis pigmentosa caused by biallelic mutations in the RLBP1 gene | |||||||||||||
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Population Age: Adults, Elderly | Gender: Male, Female | ||||||||||||
Trial protocol: SE (Trial now transitioned) | |||||||||||||
Trial results: (No results available) |
EudraCT Number: 2020-005229-95 | Sponsor Protocol Number: PBKR03-001 | Start Date*: 2021-08-23 | |||||||||||
Sponsor Name:Passage Bio, Inc. | |||||||||||||
Full Title: A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects with Early Infantile Krabbe Dis... | |||||||||||||
Medical condition: Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease (LSD) caused by mutations in the gene encoding the hydrolytic enzyme galactosylceramidase (galactoce... | |||||||||||||
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Population Age: Infants and toddlers, Under 18 | Gender: Male, Female | ||||||||||||
Trial protocol: NL (Prematurely Ended) | |||||||||||||
Trial results: (No results available) |
EudraCT Number: 2005-001651-37 | Sponsor Protocol Number: OGT 918-011 | Start Date*: 2005-10-27 |
Sponsor Name:Actelion Pharmaceuticals Ltd | ||
Full Title: A phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement ... | ||
Medical condition: Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 16 of the protocol: 1 BA... | ||
Disease: | ||
Population Age: Adults, Elderly | Gender: Male, Female | |
Trial protocol: GB (Completed) ES (Completed) IT (Completed) DE (Completed) CZ (Completed) HU (Completed) | ||
Trial results: View results |
EudraCT Number: 2017-004310-25 | Sponsor Protocol Number: ARRAY-797-301 | Start Date*: 2018-12-14 | |||||||||||
Sponsor Name:Array BioPharma Inc. | |||||||||||||
Full Title: A Phase 3, Multinational, Randomized, Placebo-controlled Study of ARRY-371797 in Patients with Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation | |||||||||||||
Medical condition: Dilated Cardiomyopathy (DCM) with Lamin A/C protein (LMNA) Mutation | |||||||||||||
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Population Age: Adults, Elderly | Gender: Male, Female | ||||||||||||
Trial protocol: GB (GB - no longer in EU/EEA) NO (Prematurely Ended) BE (Completed) ES (Prematurely Ended) NL (Prematurely Ended) IT (Prematurely Ended) DK (Prematurely Ended) | |||||||||||||
Trial results: View results |
EudraCT Number: 2015-003527-57 | Sponsor Protocol Number: CACZ885DTR01 | Start Date*: 2016-04-14 | |||||||||||
Sponsor Name:Novartis Pharmaceuticals | |||||||||||||
Full Title: An Open-label, Exploratory Study to Establish the Safety and Efficacy of 3 Months Treatment With Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever | |||||||||||||
Medical condition: Familial Mediterranean Fever | |||||||||||||
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Population Age: Adolescents, Under 18, Adults | Gender: Male, Female | ||||||||||||
Trial protocol: Outside EU/EEA | |||||||||||||
Trial results: View results |
EudraCT Number: 2016-004505-13 | Sponsor Protocol Number: TOFFIFE | Start Date*: 2017-11-27 | |||||||||||
Sponsor Name:University Hospital Tuebingen | |||||||||||||
Full Title: Tocilizumab for the Treatment of Familial Mediterranean Fever – A randomized, doubleblind, phase II proof of concept study-TOFFIFE | |||||||||||||
Medical condition: Adult patients with Familial Mediterranean Fever, who have active disease | |||||||||||||
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Population Age: Adults | Gender: Male, Female | ||||||||||||
Trial protocol: DE (Completed) | |||||||||||||
Trial results: View results |
EudraCT Number: 2020-002812-36 | Sponsor Protocol Number: PTC743-NEU-003-FA | Start Date*: 2021-02-18 | |||||||||||
Sponsor Name:PTC Therapeutics, Inc. | |||||||||||||
Full Title: A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study with Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich ataxia (MOVE-FA) | |||||||||||||
Medical condition: Friedreich Ataxia (FA) | |||||||||||||
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Population Age: Children, Adolescents, Under 18, Adults | Gender: Male, Female | ||||||||||||
Trial protocol: DE (Completed) ES (Ongoing) FR (Completed) IT (Completed) | |||||||||||||
Trial results: View results |
EudraCT Number: 2011-001513-13 | Sponsor Protocol Number: LAL-CL04 | Start Date*: 2011-10-24 | |||||||||||||||||||||
Sponsor Name:Synageva Biopharma Corp. | |||||||||||||||||||||||
Full Title: AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WH... | |||||||||||||||||||||||
Medical condition: Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare di... | |||||||||||||||||||||||
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Population Age: Adults | Gender: Male, Female | ||||||||||||||||||||||
Trial protocol: GB (Completed) CZ (Completed) | |||||||||||||||||||||||
Trial results: View results |
EudraCT Number: 2022-002314-17 | Sponsor Protocol Number: JR-441-101 | Start Date*: 2023-07-03 | |||||||||||
Sponsor Name:JCR Pharmaceuticals Co., Ltd. | |||||||||||||
Full Title: Phase I/II study of weekly infusions of JR-441 in patients with mucopolysaccharidosis type IIIA | |||||||||||||
Medical condition: Mucopolysaccharidosis type IIIA (MPS IIIA) MPS III is an autosomal recessive disease characterized by the accumulation of HS in the tissues throughout the body due to a deficiency in enzymes involv... | |||||||||||||
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Population Age: Infants and toddlers, Children, Under 18 | Gender: Male, Female | ||||||||||||
Trial protocol: DE (Trial now transitioned) | |||||||||||||
Trial results: (No results available) |
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