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Clinical trials for Autosomal recessive gene

The European Union Clinical Trials Register   allows you to search for protocol and results information on:
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    The EU Clinical Trials Register currently displays   44300   clinical trials with a EudraCT protocol, of which   7354   are clinical trials conducted with subjects less than 18 years old.   The register also displays information on   18700   older paediatric trials (in scope of Article 45 of the Paediatric Regulation (EC) No 1901/2006).

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    22 result(s) found for: Autosomal recessive gene. Displaying page 1 of 2.
    1  2  Next»
    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
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10062766 Stargardt's disease PT
    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...
    Disease: Version SOC Term Classification Code Term Level
    6.1 10003591 PT
    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...
    Disease: Version SOC Term Classification Code Term Level
    20.0 10042613 - Surgical and medical procedures 10074549 Cystic fibrosis respiratory infection suppression PT
    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,...
    Disease: Version SOC Term Classification Code Term Level
    21.1 10029205 - Nervous system disorders 10053643 Neurodegenerative disorder PT
    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
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10038914 Retinitis pigmentosa PT
    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...
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10023492 Krabbe's disease PT
    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
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004849 10056419 Dilated cardiomyopathy LLT
    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
    Disease: Version SOC Term Classification Code Term Level
    19.0 10010331 - Congenital, familial and genetic disorders 10016207 Familial mediterranean fever PT
    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
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10016207 Familial mediterranean fever PT
    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)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10017374 Friedreich's ataxia PT
    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...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10027433 - Metabolism and nutrition disorders 10027433 Metabolism and nutrition disorders SOC
    14.1 10027433 - Metabolism and nutrition disorders 10021605 Inborn errors of metabolism HLGT
    14.1 10010331 - Congenital, familial and genetic disorders 10024579 Lysosomal storage disorders HLT
    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...
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10056890 Mucopolysaccharidosis III PT
    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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