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Clinical trials for Gene mutation

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
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    • EU/EEA interventional clinical trials approved under or transitioned to the Clinical Trial Regulation 536/2014 are publicly accessible through the
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    The EU Clinical Trials Register currently displays   44335   clinical trials with a EudraCT protocol, of which   7366   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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    672 result(s) found for: Gene mutation. Displaying page 1 of 34.
    1  2  3  4  5  6  7  8  9  Next» Last»»
    EudraCT Number: 2018-000155-41 Sponsor Protocol Number: 1 Start Date*: 2019-01-10
    Sponsor Name:Department of Medical and Clinical Genetics, University of Helsinki
    Full Title: The effect of vitamin C on the gene methylation load in patients with TET2 mutations
    Medical condition: germline TET-2 gene mutation
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FI (Completed)
    Trial results: (No results available)
    EudraCT Number: 2019-001767-67 Sponsor Protocol Number: PTC124-GD-045-DMD Start Date*: 2020-01-30
    Sponsor Name:PTC Therapeutics, Inc.
    Full Title: Phase 2 Clinical Pharmacology Study to Assess Dystrophin Levels in Subjects With nmDMD Before and After Treatment with Ataluren
    Medical condition: Non-Sense Mutation Duchenne Muscular Dystrophy (nmDMD)
    Disease:
    Population Age: Children, Under 18 Gender: Male
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2019-003555-11 Sponsor Protocol Number: PD20180302 Start Date*: 2021-04-19
    Sponsor Name:ASSISTANCE PUBLIQUE-HOPÏTAUX DE PARIS
    Full Title: A Phase 1/2 Open Label non randomized Study, multicentric, single arm evaluating the Safety and Efficacy of Gene Therapy of the severe combined immunodeficiency (SCID) caused by mutations in the ...
    Medical condition: immunodeficiency (SCID) caused by mutations in the human DCLRE1C gene (Artemis)
    Disease:
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: FR (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2008-005584-33 Sponsor Protocol Number: KUN2009 Start Date*: 2010-02-09
    Sponsor Name:Radboud University Nijmegen Medical Centre
    Full Title: Dendritic cell vaccination in patients with Lynch Syndrome or colorectal cancer with MSI
    Medical condition: In this study our primary objective is to induce or enhance an immune response to tumor antigens in Lynch syndrome mutation carriers (with and without colorectal adenomas or carcinomas) and patient...
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: View results
    EudraCT Number: 2018-002966-37 Sponsor Protocol Number: 1-2018BSMO Start Date*: 2019-01-23
    Sponsor Name:Belgian Society of Medical Oncology
    Full Title: Efficacy of Olaparib in advanced cancers occurring in patients with germline mutations or somatic tumor mutations in homologous recombination genes.
    Medical condition: Advanced cancer patients that have a germline mutation or a somatic mutation in their tumor. Prostate and ovarian cancer patients and breast cancer patients who carry a BRCA1/2 mutation will be exc...
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2013-004427-37 Sponsor Protocol Number: ESPP001 Start Date*: 2014-10-01
    Sponsor Name:PARENT PROJECT ONLUS
    Full Title: Multicentre, randomised, double-blind, dose titration design in patients with Duchenne muscular dystrophy to evaluate the efficacy and the tolerability of the combinations of Ibuprofen (200 mg bid)...
    Medical condition: Restrictive respiratory syndrome with frequent pulmonary infections and cardiomyopathy. wasting of skeletal muscle, severe local inflammation and, at least initially, muscle regeneration.
    Disease: Version SOC Term Classification Code Term Level
    17.0 10010331 - Congenital, familial and genetic disorders 10064571 Gene mutation PT
    Population Age: Adolescents, Under 18 Gender: Male
    Trial protocol: IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2017-002432-17 Sponsor Protocol Number: ALN-AS1-003 Start Date*: 2017-11-22
    Sponsor Name:Alnylam Pharmaceuticals, Inc.
    Full Title: ENVISION: A Phase 3 Randomized, Double-blind, Placebo-controlled Multicenter Study with an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients with Acute Hepatic Porph...
    Medical condition: Acute Hepatic Porphyrias (AHP)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10036182 Porphyria acute PT
    20.0 10010331 - Congenital, familial and genetic disorders 10036184 Porphyria hepatic LLT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Completed) ES (Completed) DK (Completed) CZ (Completed) SE (Completed) BG (Completed) FI (Completed) BE (Completed) FR (Completed) PL (Completed) NL (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2020-000980-21 Sponsor Protocol Number: PTC124-GD-048-DMD Start Date*: 2021-06-24
    Sponsor Name:PTC Therapeutics, Inc.
    Full Title: An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age with Nonsense Mutation Duchenne Muscular Dystrophy
    Medical condition: Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
    Disease:
    Population Age: Infants and toddlers, Under 18 Gender: Male
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2024-000442-10 Sponsor Protocol Number: A8081056 Start Date*: 2024-10-11
    Sponsor Name:Pfizer, Inc
    Full Title: CRIZOTINIB (XALKORI(REGISTERED)) EXPANDED ACCESS PROTOCOL FOR THE TREATMENT OF ADULT OR PEDIATRIC PATIENTS WITH SOLID OR HEMATOLOGIC MALIGNANCIES THAT HARBOR A CRIZOTINIB-SENSITIVE MOLECULAR ALTERA...
    Medical condition: Solid tumors
    Disease:
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2018-003500-40 Sponsor Protocol Number: PQ-110-002 Start Date*: 2019-04-08
    Sponsor Name:ProQR Therapeutics IV B.V.
    Full Title: An Open-Label Extension Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of QR-110 in Subjects with Leber Congenital Amaurosis (LCA) due to the C.2991+1655a>G Mutation (P....
    Medical condition: Leber Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10070667 Leber's congenital amaurosis PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: BE (Completed)
    Trial results: View results
    EudraCT Number: 2015-004292-69 Sponsor Protocol Number: MEFV01 Start Date*: 2016-01-12
    Sponsor Name:UZ Leuven
    Full Title: Anakinra (Kineret®) for a hereditary autoinflammatory disease with MEFV mutation and inflammasome activation.
    Medical condition: hereditary autoinflammatory disease with MEFV mutation and inflammasome activation
    Disease:
    Population Age: Adults Gender: Male
    Trial protocol: BE (Completed)
    Trial results: View results
    EudraCT Number: 2009-011819-20 Sponsor Protocol Number: V00067 CA 201 1A Start Date*: 2009-05-29
    Sponsor Name:Pierre Fabre Médicament
    Full Title: Effects of OMACOR in patients with a cardiac sodium channel gene SCN5A mutation, one variant of the congenital long-QT syndrome. A proof of concept study.
    Medical condition: Adult patients with a cardiac sodium channel gene SCN5A mutation, one variant of the congenital long-QT syndrome, with implantable cardioverter defibrillator (ICD).
    Disease: Version SOC Term Classification Code Term Level
    9.1 10057926 Long QT syndrome congenital LLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: View results
    EudraCT Number: 2018-002849-11 Sponsor Protocol Number: FIRE-5 Start Date*: 2019-06-17
    Sponsor Name:Klinikum der Universität München, Ludwig-Maximilians-Universität München, represented by the managing medical director
    Full Title: Optimal anti-EGFR Treatment of mCRC Patients with Low-Frequency RAS Mutation
    Medical condition: RAS-mutant metastatic colorectal cancer
    Disease: Version SOC Term Classification Code Term Level
    21.0 100000004864 10052362 Metastatic colorectal cancer LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2021-000077-83 Sponsor Protocol Number: SRP-9001-101 Start Date*: 2022-11-10
    Sponsor Name:Sarepta Therapeutics, Inc.
    Full Title: Systemic gene delivery Phase I/IIa clinical trial for Duchenne muscular dystrophy using rAAVrh74.MHCK7.micro-dystrophin (microDys-IV-001)
    Medical condition: Duchenne Muscular Dystrophy
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10052655 Duchenne muscular dystrophy gene carrier PT
    Population Age: Children, Under 18 Gender: Male
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2020-005492-12 Sponsor Protocol Number: BDTX-189-01 Start Date*: 2021-05-27
    Sponsor Name:Black Diamond Therapeutics, Inc.
    Full Title: MasterKey-01: A Phase 1/2, Open-label, Two-part, Multicenter Study to Assess the Safety, Tolerability, Pharmacokinetics, and Antitumor Activity of BDTX-189, an Inhibitor of Allosteric ErbB Mutation...
    Medical condition: NSCLC, breast cancer, biliary tract cancer, or cervical cancer, any other solid tumors with specific gene mutations
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004864 10065252 Solid tumor LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DK (Prematurely Ended) NL (Prematurely Ended) ES (Completed) IT (Prematurely Ended) PL (Completed)
    Trial results: View results
    EudraCT Number: 2007-005808-41 Sponsor Protocol Number: EC 07/90601 Start Date*: 2008-02-25
    Sponsor Name:Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
    Full Title: Estudio multicéntrico para comprobar la respuesta clínico-analítica de pacientes portadores sintomáticos de Disferlinopatía al tratamiento con Calcifediol Multicentric study to assess the clinica...
    Medical condition: Portadores sintomaticos de una mutación en el gen disferlina. Symptomatic carriers of a mutation in the dysferlin gene
    Disease: Version SOC Term Classification Code Term Level
    9.1 10028356 Muscular dystrophy LLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: ES (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2021-006398-41 Sponsor Protocol Number: E7438-M081-501 Start Date*: 2022-01-27
    Sponsor Name:Eisai Co., Ltd.
    Full Title: A Post-marketing Observational Study of Tazemetostat on Safety in Patients With Relapsed or Refractory Follicular Lymphoma With EZH2 Gene Mutation in Japan
    Medical condition: Lymphoma, Follicular
    Disease: Version SOC Term Classification Code Term Level
    24.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10085128 Follicular lymphoma PT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: (No results available)
    EudraCT Number: 2017-000266-29 Sponsor Protocol Number: AVXS-101-CL-302 Start Date*: 2018-06-12
    Sponsor Name:AveXis, Inc.
    Full Title: Phase 3, Open Label, Single Arm, Single Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS 101 by Intravenous ...
    Medical condition: Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1
    Disease:
    Population Age: Preterm newborn infants, Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) FR (Completed) SE (Prematurely Ended) BE (Completed) ES (Prematurely Ended) NL (Prematurely Ended) IT (Completed)
    Trial results: View results
    EudraCT Number: 2020-000095-38 Sponsor Protocol Number: AVXS-101-CL-303 Start Date*: 2020-03-18
    Sponsor Name:AveXis, Inc.
    Full Title: Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS-101 by Intravenous ...
    Medical condition: Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1
    Disease:
    Population Age: Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2021-000078-27 Sponsor Protocol Number: SRP-9001-102 Start Date*: 2022-11-10
    Sponsor Name:Sarepta Therapeutics, Inc.
    Full Title: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial for Duchenne Muscular Dystrophy Using SRP-9001
    Medical condition: Duchenne Muscular Dystrophy
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10052655 Duchenne muscular dystrophy gene carrier PT
    Population Age: Children, Under 18 Gender: Male
    Trial protocol: Outside EU/EEA
    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
    As of 31 January 2023, all EU/EEA initial clinical trial applications must be submitted through CTIS . Updated EudraCT trials information and information on PIP/Art 46 trials conducted exclusively in third countries continues to be submitted through EudraCT and published on this website.

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