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Clinical trials for Gain of function 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
  • 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   44334   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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    20 result(s) found for: Gain of function mutation. Displaying page 1 of 1.
    EudraCT Number: 2013-001511-70 Sponsor Protocol Number: 44313 Start Date*: 2015-08-05
    Sponsor Name:Maastricht University Medical Center
    Full Title: Efficacy, safety and tolerability of lacosamide in patients with gain-of-function Nav1.7 mutations related small fiber neuropathy: a randomized, double-blind, placebo controlled, crossover trial
    Medical condition: SCN9A mutation related small fiber neuropathy
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: (No results available)
    EudraCT Number: 2016-000468-41 Sponsor Protocol Number: CCDZ173X2201E1 Start Date*: 2016-07-19
    Sponsor Name:Pharming Technologies B.V.
    Full Title: An open-label, non-randomized extension study to evaluate the long term safety, tolerability, efficacy and pharmacokinetics of CDZ173 (leniolisib) in patients with APDS/PASLI (Activated phosphoinos...
    Medical condition: APDS/PASLI (Activated phosphoinositide 3-kinase delta syndrome/p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10064859 Primary immunodeficiency syndrome PT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: CZ (Completed) NL (Prematurely Ended) IE (Completed) GB (GB - no longer in EU/EEA) FR (Completed) DE (Completed) IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2008-006953-41 Sponsor Protocol Number: C08-002B Start Date*: 2009-08-19
    Sponsor Name:ALEXION PHARMACEUTICALS, INC.
    Full Title: AN OPEN-LABEL, MULTI-CENTER CONTROLLED CLINICAL TRIAL OF ECULIZUMAB IN ADOLESCENT PATIENTS WITH PLASMA THERAPY-RESISTANT ATYPICAL HEMOLYTIC-UREMIC SYNDROME (AHUS)
    Medical condition: Adolescent patients (from 12 and up to 18 years of age weighing ≥ 40 kg) with plasma therapyresistant Atypical Hemolytic-Uremic Syndrome (aHUS).
    Disease: Version SOC Term Classification Code Term Level
    9.1 10018932 Haemolytic uraemic syndrome LLT
    Population Age: Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) NL (Completed) SE (Completed) AT (Completed) GB (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2008-006952-23 Sponsor Protocol Number: C08-002A Start Date*: 2009-08-19
    Sponsor Name:ALEXION PHARMACEUTICALS, INC.
    Full Title: AN OPEN-LABEL, MULTI-CENTER CONTROLLED CLINICAL TRIAL OF ECULIZUMAB IN ADULT PATIENTS WITH PLASMA THERAPY-RESISTANT ATYPICAL HEMOLYTIC-UREMIC SYNDROME (AHUS)
    Medical condition: Adult patients with plasma therapy-resistant Atypical Hemolytic-Uremic Syndrome (aHUS)
    Disease: Version SOC Term Classification Code Term Level
    9.1 10018932 Haemolytic uraemic syndrome LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) NL (Completed) SE (Completed) AT (Completed) FR (Completed) ES (Prematurely Ended) GB (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2008-006954-17 Sponsor Protocol Number: C08-003A Start Date*: 2009-06-18
    Sponsor Name:ALEXION PHARMACEUTICALS, INC.
    Full Title: AN OPEN-LABEL, MULTI-CENTER CONTROLLED CLINICAL TRIAL OF ECULIZUMAB IN ADULT PATIENTS WITH PLASMA THERAPY-SENSITIVE ATYPICAL HEMOLYTIC UREMIC SYNDROME (AHUS)
    Medical condition: Adult patients with plasma therapy-sensitive Atypical Hemolytic-Uremic Syndrome (aHUS)
    Disease: Version SOC Term Classification Code Term Level
    9.1 10018932 Haemolytic uraemic syndrome LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) NL (Completed) SE (Completed) AT (Completed) FR (Completed) ES (Prematurely Ended) GB (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2014-003876-22 Sponsor Protocol Number: CCDZ173X2201 Start Date*: Information not available in EudraCT
    Sponsor Name:Novartis Pharma Services AG
    Full Title: An open-label, non-randomized, within-patient dose-finding study followed by a randomized, subject, investigator and sponsor-blinded placebo controlled study to assess the efficacy and safety of CD...
    Medical condition: APDS/PASLI (Activated phosphoinositide 3-kinase delta syndrome/ p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency)
    Disease:
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) CZ (Completed) NL (Completed) IE (Completed) FR (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2008-006955-28 Sponsor Protocol Number: C08-003B Start Date*: 2009-08-19
    Sponsor Name:ALEXION PHARMACEUTICALS, INC.
    Full Title: AN OPEN-LABEL, MULTI-CENTER CONTROLLED CLINICAL TRIAL OF ECULIZUMAB IN ADOLESCENT PATIENTS WITH PLASMA THERAPY-SENSITIVE ATYPICAL HEMOLYTIC UREMIC SYNDROME (AHUS)
    Medical condition: Adolescent patients (from 12 and up to 18 years of age weighing ≥ 40 kg) with plasma therapysensitive Atypical Hemolytic-Uremic Syndrome (aHUS).
    Disease: Version SOC Term Classification Code Term Level
    9.1 10018932 Haemolytic uraemic syndrome LLT
    Population Age: Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) NL (Completed) SE (Completed) AT (Completed) ES (Prematurely Ended) GB (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2006-000181-36 Sponsor Protocol Number: FAB-CL-204 Start Date*: 2006-03-17
    Sponsor Name:Amicus Therapeutics, Inc.
    Full Title: A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease
    Medical condition: Fabry disease
    Disease: Version SOC Term Classification Code Term Level
    8.1 10016016 LLT
    Population Age: Adults Gender: Female
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2009-011186-88 Sponsor Protocol Number: ABB-09-001 Start Date*: 2009-09-08
    Sponsor Name:FONDAZIONE CENTRO EMOFILIA E TROMBOSI ANGELO BIANCHI BONOMI
    Full Title: Desarrollo de inhibidores en pacientes no tratados previamente (PUP) o en pacientes mínimamente tratados con componentes sanguíneos (MBCTP) al ser expuestos a concentrados de derivados plasmáticos ...
    Medical condition: El estudio es un ensayo clínico abierto, aleatorizado, controlado, prospectivo, multicéntrico, internacional e independiente sobre la frecuencia de formación de inhibidores en pacientes no tratados...
    Disease: Version SOC Term Classification Code Term Level
    9 10018937 Haemophilia A LLT
    Population Age: Newborns, Infants and toddlers, Children, Under 18 Gender: Male
    Trial protocol: ES (Prematurely Ended) IT (Completed) PT (Completed) FR (Ongoing) DE (Completed) AT (Prematurely Ended) BE (Completed) GB (GB - no longer in EU/EEA) SK (Completed) CZ (Completed)
    Trial results: (No results available)
    EudraCT Number: 2019-003611-62 Sponsor Protocol Number: LIB003-003 Start Date*: 2020-03-20
    Sponsor Name:LIB Therapeutics, LLC
    Full Title: Randomized, Open-Label, Cross-Over, Phase 3 Study to Evaluate the Efficacy and Safety of LIB003 with Evolocumab in Homozygous Familial Hypercholesterolemia Patients on Stable Lipid-Lowering Therapy.
    Medical condition: Homozygous Familial Hypercholesterolemia
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10057080 Homozygous familial hypercholesterolemia LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: NO (Completed)
    Trial results: (No results available)
    EudraCT Number: 2015-001482-57 Sponsor Protocol Number: SAKK_41/13-Aspirin Start Date*: 2016-09-19
    Sponsor Name:SAKK Swiss Group for Clinical Cancer Research
    Full Title: Adjuvant aspirin treatment in PIK3CA mutated colon cancer patients. A randomized, double-blinded, placebo-controlled, phase III trial
    Medical condition: PIK3CA mutated colon cancer
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) HU (Prematurely Ended) BE (Completed)
    Trial results: (No results available)
    EudraCT Number: 2018-000108-41 Sponsor Protocol Number: 062-HEM-102 Start Date*: 2019-02-06
    Sponsor Name:Sunesis Pharmaceuticals, Inc.
    Full Title: A Phase 1b/2 Dose-Escalation and Cohort-Expansion Study of the Noncovalent, Reversible Bruton’s Tyrosine Kinase Inhibitor, SNS 062, in Patients With B-Lymphoid Malignancies
    Medical condition: Male or female adult patients with an advanced B-Lymphoid malignancies that have relapsed/progressed after appropriate prior therapy and have resistance and/or mutations that may respond to subsequ...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004851 10026798 Mantle cell lymphomas HLT
    20.1 100000004851 10047802 Waldenstrom's macroglobulinaemias HLT
    20.1 100000004864 10008948 Chronic leukemia LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Prematurely Ended) ES (Prematurely Ended) IT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2015-002469-41 Sponsor Protocol Number: EZH-202 Start Date*: 2016-04-18
    Sponsor Name:Epizyme, Inc.
    Full Title: A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects with INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma
    Medical condition: Cohort 1: Rhabdoid tumors (malignant rhabdoid tumors, rhabdoid tumors of the kidney, atypical teratoid rhabdoid tumors, and selected tumors Cohort 2: Relapsed/refractory synovial sarcoma with SS18...
    Disease: Version SOC Term Classification Code Term Level
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10007284 Carcinoma LLT
    21.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10064886 Renal medullary carcinoma LLT
    21.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10073134 Extraskeletal myxoid chondrosarcoma PT
    21.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10026667 Malignant peripheral nerve sheath tumor LLT
    21.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10073335 Rhabdoid tumor LLT
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10042863 Synovial sarcoma PT
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10015100 Epithelioid sarcomas HLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Completed) BE (Completed) FR (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2020-005225-81 Sponsor Protocol Number: VALYM Start Date*: 2021-04-28
    Sponsor Name:LYSARC
    Full Title: A PHASE II OPEN-LABEL STUDY EVALUATING VALEMETOSTAT TOSYLATE AS A SINGLE AGENT IN PATIENTS WITH RELAPSE/REFRACTORY B-CELL LYMPHOMA
    Medical condition: RELAPSE/REFRACTORY B-CELL LYMPHOMA
    Disease: Version SOC Term Classification Code Term Level
    21.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10003902 B-cell lymphoma recurrent PT
    21.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10003903 B-cell lymphoma refractory PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Trial now transitioned) BE (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2016-002157-38 Sponsor Protocol Number: 57911 Start Date*: 2017-09-14
    Sponsor Name:Radboud University Medical Center
    Full Title: Treatment of congenital vascular malformations using Sirolimus: improving quality of Life
    Medical condition: congenital vascular malformation : Vascular malformations can involve lymphatic vessels, capillaries, veins and arteries or even combinations. These vascular malformations are present at birth an...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000005125 10047091 Vascular malformations and acquired anomalies HLT
    20.0 100000158692 10047090 Vascular malformation peripheral LLT
    20.0 10017947 - Gastrointestinal disorders 10070181 Gastrointestinal vascular malformation PT
    20.0 10010331 - Congenital, familial and genetic disorders 10074979 Vascular malformation PT
    Population Age: Infants and toddlers, Children, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: View results
    EudraCT Number: 2018-002851-14 Sponsor Protocol Number: QUIWI Start Date*: 2019-06-21
    Sponsor Name:FUNDACIÓN PETHEMA
    Full Title: A 2:1 randomized phase II trial to compare the efficacy and safety of standard chemotherapy plus quizartinib versus standard chemotherapy plus placebo in adult patients with newly diagnosed FLT3 wi...
    Medical condition: Acute myeloid leukemia
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004864 10000886 Acute myeloid leukemia LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: ES (Ongoing) PT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2010-023744-33 Sponsor Protocol Number: 2 Start Date*: 2012-11-12
    Sponsor Name:University of Rochester
    Full Title: Duchenne muscular dystrophy: double-blind randomized trial to find optimum steroid regimen
    Medical condition: Duchenne muscular dystrophy (DMD)
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10013801 Duchenne muscular dystrophy PT
    Population Age: Children, Under 18 Gender: Male
    Trial protocol: GB (GB - no longer in EU/EEA) IT (Ongoing)
    Trial results: View results
    EudraCT Number: 2020-000951-11 Sponsor Protocol Number: HR-BLTN-III-NSCLC Start Date*: 2020-10-14
    Sponsor Name:Jiangsu Hengrui Medicine Co., Ltd.
    Full Title: A Phase 3, Randomized , Open-Label, Multicenter Study of the Efficacy and Safety of Pyrotinib versus Docetaxel in Patients with Advanced Non-squamous Non-small Cell Lung Cancer (NSCLC) Harboring a ...
    Medical condition: non-small cell lung cancer
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Completed) IT (Completed) FR (Completed)
    Trial results: (No results available)
    EudraCT Number: 2016-004479-35 Sponsor Protocol Number: VX16-661-115 Start Date*: Information not available in EudraCT
    Sponsor Name:Vertex Pharmaceuticals Incorporated
    Full Title: A Phase 3, Double-blind, Parallel-group Study to Evaluate the Efficacy and Safety of Tezacaftor in Combination With Ivacaftor in Subjects Aged 6 Through 11 Years With Cystic Fibrosis, Homozygous or...
    Medical condition: Cystic Fibrosis
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10011762 Cystic fibrosis PT
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: IE (Completed) DK (Completed) BE (Completed) DE (Completed) GB (Completed) PL (Completed) FR (Completed)
    Trial results: View results
    EudraCT Number: 2013-000885-13 Sponsor Protocol Number: UC-0105/1303 Start Date*: 2013-07-31
    Sponsor Name:UNICANCER
    Full Title: Secured access to crizotinib for patients with tumors harboring a genomic alteration on one of the biological targets of the drug
    Medical condition: Patients with metastatic or unresectable locally advanced malignancies harboring specific genomic alterations regarding the biological crizotinib targets, and who are no more amenable to curative t...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10007050 Cancer LLT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10029260 Neuroblastoma PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10002227 Anaplastic large cell lymphoma T- and-cell types PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10067917 Inflammatory myofibroblastic tumour PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10008593 Cholangiocarcinoma PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10067946 Renal cell carcinoma PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10039022 Rhabdomyosarcoma PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10017758 Gastric cancer PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10024658 Liver carcinoma LLT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10061873 Non-small cell lung cancer PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10018336 Glioblastoma PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10061451 Colorectal cancer PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10066474 Thyroid cancer PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10006187 Breast cancer PT
    14.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10033128 Ovarian cancer PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: (No results available)
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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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