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Clinical trials for Genetic Disease

The European Union Clinical Trials Register   allows you to search for protocol and results information on:
  • interventional clinical trials that were approved in the European Union (EU)/European Economic Area (EEA) under the Clinical Trials Directive 2001/20/EC
  • clinical trials conducted outside the EU/EEA that are linked to European paediatric-medicine development

    • EU/EEA interventional clinical trials approved under or transitioned to the Clinical Trial Regulation 536/2014 are publicly accessible through the
    Clinical Trials Information System (CTIS).

    The EU Clinical Trials Register currently displays   43861   clinical trials with a EudraCT protocol, of which   7284   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).

    Phase 1 trials conducted solely on adults and that are not part of an agreed paediatric investigation plan (PIP) are not publicly available (see Frequently Asked Questions ).  
     
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    2,601 result(s) found for: Genetic Disease. Displaying page 1 of 131.
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    EudraCT Number: 2008-001174-33 Sponsor Protocol Number: 28612 Start Date*: 2008-12-30
    Sponsor Name:Merck Serono International S.A., A branch of Laboratoires Serono S.A.
    Full Title: A mulitnational, multicenter, exploratory pharmacogenomics trial to test the importance of identified genetic markers, and potentially identify new markers of various ovarian responses to GONAL-f® ...
    Medical condition: Females undergoing assisted reproductive technology (ART), in vitro fertilisation (IVF) or intra cytoplasmic sperm injection (ICSI)
    Disease: Version SOC Term Classification Code Term Level
    9.1 10021930 Infertility NOS LLT
    Population Age: Adults Gender: Female
    Trial protocol: SE (Prematurely Ended) GB (Prematurely Ended) AT (Prematurely Ended) FR (Completed) ES (Completed)
    Trial results: View results
    EudraCT Number: 2013-003938-32 Sponsor Protocol Number: 11190801 Start Date*: 2014-02-12
    Sponsor Name:Medizinische Universität Graz
    Full Title: Genetic alterations in genes coding for transporters and metformin resistance
    Medical condition: We want to investigate the pharmacokintetics of metformin in patients with type 2 diabetes or polycystic ovary syndrome in association with the patients genotype
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: AT (Completed)
    Trial results: View results
    EudraCT Number: 2005-004008-36 Sponsor Protocol Number: ANAK-01 Start Date*: 2005-10-27
    Sponsor Name:ISTITUTO GIANNINA GASLINI
    Full Title: Efficacy and safety of treatment with Anakinra in patients with CINCA/MUCKLE-WELLS syndrome and systemic juvenile idiopathic arthritis
    Medical condition: CINCA/MUCKLE-WELLS syndrome and systemic juvenile idiopathic arthritis
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2018-002319-86 Sponsor Protocol Number: DIAN-Obs-BCN Start Date*: 2019-03-20
    Sponsor Name:Fundació Clínic per a la Recerca Biomèdica
    Full Title: Dominantly Inherited Alzheimer Network - DIAN
    Medical condition: Alzheimer disease
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: ES (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2018-002210-12 Sponsor Protocol Number: ID-069A302 Start Date*: 2019-03-18
    Sponsor Name:Idorsia Pharmaceuticals Ltd
    Full Title: A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease
    Medical condition: Fabry disease
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    20.0 10010331 - Congenital, familial and genetic disorders 10016016 Fabry's disease PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Ongoing) FR (Ongoing) AT (Ongoing) NL (Completed) BE (Ongoing) NO (Ongoing) IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2020-005032-30 Sponsor Protocol Number: FLT201-01 Start Date*: 2023-03-13
    Sponsor Name:Freeline Therapeutics Limited
    Full Title: A Phase 1/2, open-label, safety, tolerability and efficacy study of FLT201 in adult patients with Gaucher disease Type 1 (Galileo-1)
    Medical condition: Type 1 Gaucher Disease
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    20.0 10010331 - Congenital, familial and genetic disorders 10075697 Gaucher's disease type I PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: ES (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2014-000763-41 Sponsor Protocol Number: FBB-FAD-2014 Start Date*: 2014-08-20
    Sponsor Name:FUNDACIÓ CLÍNIC PER A LA RECERCA BIOMÈDICA
    Full Title: Study of genetic Alzheimer?s disease mutation carriers in preclinical stages of the disease: 18F-Florbetaben Positron Emission Tomography study.
    Medical condition: Healthy voulnteers carrying a mutation in at least one of the following genes: PSEN1, PSEN2 or APP.
    Disease: Version SOC Term Classification Code Term Level
    17.0 100000004852 10001897 Alzheimer's disease (incl subtypes) HLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: ES (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2014-001501-41 Sponsor Protocol Number: 156-13-208 Start Date*: 2016-01-16
    Sponsor Name:Otsuka Pharmaceutical Development & Commercialization, Inc.
    Full Title: A Multinational Trial to Collect Blood Samples to Explore Potential Genetic/Biomarkers Related to Increased Risk of Liver Injury in Adult Subjects from Prior Tolvaptan Clinical Trials for Autosomal...
    Medical condition: Autosomal Dominant Polycystic Kidney Disease (ADPKD), Patients with Increased Risk of Liver Injury
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: BE (Prematurely Ended) FR (Completed)
    Trial results: View results
    EudraCT Number: 2011-001118-32 Sponsor Protocol Number: EP06-401 Start Date*: 2011-05-25
    Sponsor Name:Sandoz GmbH
    Full Title: Twelve-month study on the immunogenicity, safety, and efficacy of Zarzio®/Filgrastim HEXAL® in patients with severe chronic neutropenia
    Medical condition: Severe chronic neutropenia (i.e. congenital neutropenia, cyclic neutropenia and chronic idiopathic neutropenia)
    Disease: Version SOC Term Classification Code Term Level
    14.1 10005329 - Blood and lymphatic system disorders 10051645 Idiopathic neutropenia PT
    14.1 10010331 - Congenital, familial and genetic disorders 10069819 Congenital neutropenia LLT
    14.1 10005329 - Blood and lymphatic system disorders 10053176 Cyclic neutropenia PT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Prematurely Ended) SE (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2009-015985-75 Sponsor Protocol Number: HGT-REP-060 Start Date*: 2010-02-03
    Sponsor Name:Shire Human Genetic Therapies (HGT), Inc.
    Full Title: An Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease
    Medical condition: Fabry disease
    Disease: Version SOC Term Classification Code Term Level
    14.0 10010331 - Congenital, familial and genetic disorders 10016016 Fabry's disease PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: PL (Completed) CZ (Completed) GB (Completed) FI (Completed) SI (Completed)
    Trial results: View results
    EudraCT Number: 2012-005796-14 Sponsor Protocol Number: 1/2013 Start Date*: 2014-05-13
    Sponsor Name:Medizinische Universität Wien
    Full Title: A randomized, pilot study to assess the impact of single nucleotide polymorphisms in the ABCB1 and ABCG2 genes on brain and organ distribution of dual Pgp/BCRP substrates in humans.
    Medical condition: The effect of genetic polymorphisms on drug distribution will be investigated in healthy volunteers
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: AT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2018-003297-27 Sponsor Protocol Number: NLRC4/XIAP.2016.001 Start Date*: 2019-10-15
    Sponsor Name:AB2 Bio Ltd.
    Full Title: Multicenter, double-blind, placebo-controlled, randomized withdrawal trial with Tadekinig alfa (r-hIL-18BP) in patients with IL-18 driven monogenic autoinflammatory conditions: NLRC4 mutation and X...
    Medical condition: NLRC4 mutation XIAP deficiency
    Disease:
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed)
    Trial results: (No results available)
    EudraCT Number: 2012-003427-38 Sponsor Protocol Number: HGT-GCB-068 Start Date*: 2016-04-07
    Sponsor Name:Shire Human Genetic Therapies
    Full Title: A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease
    Medical condition: Type 3 Gaucher disease
    Disease: Version SOC Term Classification Code Term Level
    18.1 10010331 - Congenital, familial and genetic disorders 10075697 Gaucher's disease type I PT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2017-001309-34 Sponsor Protocol Number: VX14-809-106 Start Date*: 2017-03-29
    Sponsor Name:Vertex Pharmaceuticals Incorporated
    Full Title: A Phase 3b, Open-Label Study to Evaluate Lumacaftor and Ivacaftor Combination Therapy in Subjects 12 Years and Older With Cystic Fibrosis and Advanced Lung Disease, Homozygous for the F508del-CFTR ...
    Medical condition: Cystic Fibrosis
    Disease: Version SOC Term Classification Code Term Level
    19.1 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2021-003907-16 Sponsor Protocol Number: SPIMD-301 Start Date*: 2022-03-02
    Sponsor Name:Stealth BioTherapeutics Inc.
    Full Title: A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondr...
    Medical condition: Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    20.0 10010331 - Congenital, familial and genetic disorders 10052635 Cytoplasmic disorders congenital HLGT
    20.0 10010331 - Congenital, familial and genetic disorders 10052637 Genetic mitochondrial abnormalities NEC HLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: HU (Ongoing) NO (Ongoing) ES (Ongoing) IT (Ongoing) NL (Ongoing) DE (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2018-000368-27 Sponsor Protocol Number: MAN-ALG-18-001 Start Date*: 2018-10-22
    Sponsor Name:FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS UNIVERSITA' CATTOLICA DEL SACRO CUORE
    Full Title: ND
    Medical condition: Fabry disease
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2021-004577-30 Sponsor Protocol Number: EARLY-GENE Start Date*: 2022-03-11
    Sponsor Name:FUNDACION INVESTIGACION BIOMEDICA HOSPITAL PUERTA DE HIERRO MAJADAHONDA
    Full Title: EARLY treatment with Candesartan vs Placebo in asymptomatic GENEtic carriers of Dilated Cardiomyopathy (EARLY-GENE trial)
    Medical condition: Dilated Cardiomyopathy
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: ES (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2021-002855-12 Sponsor Protocol Number: RM-493-034 Start Date*: 2022-04-22
    Sponsor Name:Rhythm Pharmaceuticals Inc.
    Full Title: A 2-Stage (Open-Label Run-in followed by Randomized Withdrawal), Double-Blind, Placebo-Controlled, Phase 2 study of Setmelanotide in Patients with Specific Gene Defects in the Melanocortin-4 Rece...
    Medical condition: Specific Gene Defects in the Melanocortin-4 Receptor Pathway, responsible for improper functions of certain messenger materials in the body. E.g Melanocyte-Stimulating Hormone (MSH)
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: FR (Completed) DE (Ongoing) ES (Ongoing) NL (Ongoing) GR (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2017-001678-40 Sponsor Protocol Number: CACZ885N2301E2 Start Date*: 2017-05-15
    Sponsor Name:Novartis pharma AG
    Full Title: An extension study of safety of canakinumab in Japanese patients with periodic fever syndromes
    Medical condition: Three disease of periodic fever syndromes, TNF receptor Associated Periodic Syndrome (TRAPS), Hyper IgDSyndrome (HIDS)/ Mevalonate Kinase Deficiency (MKD) and Familial Mediterranean Fever (FMF
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2013-002856-33 Sponsor Protocol Number: ALN-TTRSC-002 Start Date*: 2013-11-15
    Sponsor Name:Alnylam Pharmaceuticals, Inc.
    Full Title: A Phase 2, Open-Label Trial to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics and Exploratory Clinical Activity of ALN-TTRSC in Patients with Transthyretin (TTR) Cardiac Amyloidosis
    Medical condition: Transthyretin (TTR) Cardiac Amyloidosis
    Disease: Version SOC Term Classification Code Term Level
    16.1 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed)
    Trial results: View results
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    The status and protocol content of GB trials is no longer updated since 1 January 2021. For the UK, as of 31 January 2021, EU Law applies only to the territory of Northern Ireland (NI) to the extent foreseen in the Protocol on Ireland/NI. Legal notice
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