Flag of the European Union EU Clinical Trials Register Help

Clinical trials for Loss 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   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 ).  
     
    Examples: Cancer AND drug name. Pneumonia AND sponsor name.
    How to search [pdf]
    Search Tips: Under advanced search you can use filters for Country, Age Group, Gender, Trial Phase, Trial Status, Date Range, Rare Diseases and Orphan Designation. For these items you should use the filters and not add them to your search terms in the text field.
    Advanced Search: Search tools
     
    129 result(s) found for: Loss of function mutation. Displaying page 1 of 7.
    1  2  3  4  5  6  7  Next»
    EudraCT Number: 2019-002637-11 Sponsor Protocol Number: CBYL719H12301 Start Date*: 2020-03-18
    Sponsor Name:Novartis Pharma AG
    Full Title: EPIK-B3: A Phase III, multicenter, randomized, double-blind, placebo-controlled study to assess the efficacy and safety of alpelisib (BYL719) in combination with nab-paclitaxel in patients with adv...
    Medical condition: Advanced triple negative breast cancer
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: HU (Completed) FR (Completed) SK (Completed) DE (Completed) GB (GB - no longer in EU/EEA) IT (Completed) NO (Completed) AT (Completed) BG (Completed) SI (Completed) PL (Completed) HR (Completed) GR (Completed) RO (Completed) PT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2022-000241-32 Sponsor Protocol Number: NL80290.018.22 Start Date*: 2022-08-08
    Sponsor Name:Amsterdam UMC
    Full Title: Effectiveness of L-serine dietary supplementation in children with a GRIN2B loss-of-function mutation: n-of-1 series
    Medical condition: GRIN2B deficiency
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: (No results available)
    EudraCT Number: 2016-002320-83 Sponsor Protocol Number: RM-493-012 Start Date*: 2016-09-28
    Sponsor Name:Rhythm Pharmaceuticals, Inc.
    Full Title: An Open Label, 1-Year Trial, including a Double-Blind Placebo-Controlled Withdrawal Period, of Setmelanotide (RM-493), a Melanocortin 4 Receptor (MC4R) Agonist, in Early Onset POMC Deficiency Obesi...
    Medical condition: Early onset pro-opiomelanocortin deficiency obesity
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) GB (Completed) FR (Completed) BE (Completed) ES (Completed)
    Trial results: View results
    EudraCT Number: 2015-004890-34 Sponsor Protocol Number: ADF105220 Start Date*: 2016-12-21
    Sponsor Name:GlaxoSmithKline K.K.
    Full Title: Phase III study of adefovir dipivoxil tablets in patients with compensated chronic hepatitis B (comparative study against lamivudine).
    Medical condition: Hepatitis B, Chronic
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2017-002005-36 Sponsor Protocol Number: RM-493-015 Start Date*: 2017-10-30
    Sponsor Name:Rhythm Pharmaceuticals, Inc.
    Full Title: An Open Label, 1-Year Trial, including a Double-Blind Placebo-Controlled Withdrawal Period, of Setmelanotide (RM-493), a Melanocortin 4 Receptor (MC4R) Agonist, in Leptin Receptor (LEPR) Deficiency...
    Medical condition: Early Onset Leptin Receptor (LEPR) Deficiency Obesity due to Bi-Allelic Loss-of-Function LEPR Genetic Mutation
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) FR (Completed) NL (Completed) GB (Completed)
    Trial results: View results
    EudraCT Number: 2007-001375-11 Sponsor Protocol Number: not applicable Start Date*: 2007-05-16
    Sponsor Name:
    Full Title: Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease Long-term follow-up of patients receiving commercially available Myozyme
    Medical condition: Pompe disease (glycogen storage disease type II) is a genetic, lysosomal storage disorder with a frequency of 1 in 40.000 newborns. The disease is caused by deficiency of alpha-glucosidase, a lysos...
    Disease:
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2013-003195-12 Sponsor Protocol Number: CHUBX2012/29 Start Date*: 2013-10-01
    Sponsor Name:CHU de Bordeaux
    Full Title: A multicenter, two arms, randomized, open label clinical Phase IV study investigating the proportion of CMV seropositive kidney transplant recipients who will develop a CMV infection within the fir...
    Medical condition: CMV infection in CMV-seropositive de novo kidney transplant recipients receiving an immunosuppressive regimen.
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2013-005155-32 Sponsor Protocol Number: COSYMO Start Date*: 2014-12-12
    Sponsor Name:Leiden University Medical Center
    Full Title: A phase 2, single arm, multi center trial evaluating the efficacy of the combination of sirolimus and cyclophosphamide in metastatic or unresectable myxoid liposarcoma and chondrosarcoma.
    Medical condition: Conventional chondrosarcoma Myxoid liposarcoma with PIK3CA mutation or PTEN loss Mesenchymal or dedifferentiated chondrosarcoma Clear cell chondrosarcoma
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Ongoing) ES (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2014-001617-12 Sponsor Protocol Number: AP24534-14-203 Start Date*: 2017-10-09
    Sponsor Name:Takeda Development Center Americas, Inc.
    Full Title: A Randomized, Open-label, Phase 2 Trial of Ponatinib in Patients with Resistant Chronic Phase Chronic Myeloid Leukemia to Characterize the Efficacy and Safety of a Range of Doses
    Medical condition: Chronic Phase Chronic Myeloid Leukemia
    Disease: Version SOC Term Classification Code Term Level
    21.0 100000004864 10054352 Chronic phase chronic myeloid leukemia LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: SE (Completed) CZ (Completed) DE (Completed) FI (Prematurely Ended) ES (Completed) DK (Completed) NO (Completed) BE (Completed) FR (Trial now transitioned) NL (Completed) PT (Completed) PL (Trial now transitioned) IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2020-001940-25 Sponsor Protocol Number: IFG-05-2019 Start Date*: 2021-08-25
    Sponsor Name:Institut für Frauengesundheit GmbH
    Full Title: A PHASE II OPEN-LABEL STUDY FOR THE COMPREHENSIVE ANALYSIS OF PREDICTORS OF THE TREATMENT WITH PEMBROLIZUMAB AND OLAPARIB IN PATIENTS WITH UNRESECTABLE OR METASTATIC HER2 NEGATIVE BREAST CANCER AND...
    Medical condition: patients with unresectable or metastatic HER2 negative breast cancer and a deleterious germline mutation in BRCA 1/2, ATM, BARD1, CHEK2, FANCC, PALB2, RAD51C, RAD51D, SLX4, XRCC2 or a homologous re...
    Disease: Version SOC Term Classification Code Term Level
    21.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10057654 Breast cancer female PT
    21.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10061020 Breast cancer male PT
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10006187 Breast cancer PT
    20.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10055113 Breast cancer metastatic PT
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10027475 Metastatic breast cancer LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2021-004310-19 Sponsor Protocol Number: W00090GE303/EORTC-2139-MG Start Date*: 2022-02-15
    Sponsor Name:Pierre Fabre Médicament
    Full Title: Adjuvant encorafenib & binimetinib vs. placebo in fully resected stage IIB/C BRAF V600E/K mutated melanoma: a randomized triple-blind phase III study in collaboration with the EORTC Melanoma Group
    Medical condition: Resected BRAF V600E/K stage IIB/C melanoma
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004864 10053571 Melanoma LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed) DE (Completed) NO (Completed) AT (Completed) NL (Completed) PL (Completed) GR (Completed) CZ (Completed) HU (Completed) ES (Ongoing) PT (Prematurely Ended) IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2016-000602-10 Sponsor Protocol Number: SNT-III-012 Start Date*: 2016-11-17
    Sponsor Name:Santhera Pharmaceuticals (Switzerland) Limited
    Full Title: A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid Ste...
    Medical condition: Duchenne Muscular Dystrophy (DMD)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10013801 Duchenne muscular dystrophy PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male
    Trial protocol: DE (Prematurely Ended) BE (Completed) NL (Prematurely Ended) SE (Prematurely Ended) GB (Prematurely Ended) ES (Prematurely Ended) AT (Prematurely Ended) FR (Completed) IT (Prematurely Ended) IE (Completed) HU (Prematurely Ended) BG (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2018-004058-11 Sponsor Protocol Number: RM-493-023 Start Date*: Information not available in EudraCT
    Sponsor Name:Rhythm Pharmaceuticals, Inc.
    Full Title: A Phase 3 trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström syndrome (AS) Patients with Moderate to Severe Obesity
    Medical condition: Obesity and hyperphagia in patients with Bardet-Biedl Syndrome or Alström syndrome
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: FR (Completed) ES (Completed) GB (GB - no longer in EU/EEA)
    Trial results: View results
    EudraCT Number: 2009-012293-12 Sponsor Protocol Number: NO25026 Start Date*: 2010-01-25
    Sponsor Name:F. Hoffmann-La Roche Ltd.
    Full Title: BRIM 3: A Randomized, Open-label, Controlled, Multicenter, Phase III Study in Previously untreated Patients with Unresectable Stage IIIC or Stage IV Melanoma with V600E BRAF mutation Receiving Vemu...
    Medical condition: First-line therapy for adult patients with histologically confirmed metastatic melanoma (unresectable Stage IIIC or Stage IV) harbouring the V600E positive mutation
    Disease: Version SOC Term Classification Code Term Level
    17.0 100000004864 10027481 Metastatic melanoma LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Completed) DE (Completed) FR (Completed) SE (Completed) IT (Completed) GB (Completed)
    Trial results: View results
    EudraCT Number: 2008-000524-82 Sponsor Protocol Number: RMH CCR No 3107 Start Date*: 2008-10-09
    Sponsor Name:Royal Marsden Hospital
    Full Title: MESH: A Non-Randomised Phase II Trial of Methotrexate in Metastatic Colorectal Cancer with MSH2 Deficiency
    Medical condition: Metastatic colorectal cancer resistanct to standard chemotherapy with evidence of deficiency of the mismatch repair gene MSH2, either on immunohistochemistry of tumour histology or on testing of pe...
    Disease: Version SOC Term Classification Code Term Level
    9.1 10052362 Metastatic colorectal cancer LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2021-005879-40 Sponsor Protocol Number: U31402-A-U301 Start Date*: 2022-08-09
    Sponsor Name:Daiichi Sankyo, Inc.
    Full Title: HERTHENA–Lung02: A Phase 3, Randomized, Open-label Study of Patritumab Deruxtecan Versus Platinum-based Chemotherapy in Metastatic or Locally Advanced Epidermal Growth Factor Receptor-mutated (EGFR...
    Medical condition: Metastatic or Locally Advanced Epidermal Growth Factor Receptor-mutated (EGFRm) Non-small Cell Lung Cancer (NSCLC)
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004864 10079440 Non-squamous non-small cell lung cancer LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Trial now transitioned) ES (Ongoing) BE (Trial now transitioned) NO (Trial now transitioned) PT (Trial now transitioned) AT (Trial now transitioned) PL (Trial now transitioned) NL (Trial now transitioned) IT (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2020-004176-18 Sponsor Protocol Number: CHK01-02 Start Date*: 2021-06-21
    Sponsor Name:Chinook Therapeutics U.S., Inc.
    Full Title: A Phase 2, Open-Label, Basket Study of Atrasentan in Patients with Proteinuric Glomerular Diseases (The AFFINITY Study)
    Medical condition: Proteinuric glomerular diseases, including: Immunoglobulin A nephropathy (IgAN) (with UPCR 0.5 to <1.0 g/g) Focal segmental glomerulosclerosis (FSGS) Alport Syndrome Diabetes kidney disease (DKD) (...
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: ES (Ongoing) IT (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2017-002767-17 Sponsor Protocol Number: D0816C00020 Start Date*: 2017-12-14
    Sponsor Name:AstraZeneca AB
    Full Title: A Phase IIIb, Single-arm, Open-label Multicentre Study of Olaparib Maintenance Monotherapy in Platinum Sensitive Relapsed non-Germline BRCA Mutated Ovarian Cancer Patients who are in Complete or Pa...
    Medical condition: Non Germline BRCA Mutated Ovarian Cancer
    Disease: Version SOC Term Classification Code Term Level
    20.0 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10033128 Ovarian cancer PT
    Population Age: Adults, Elderly Gender: Female
    Trial protocol: CZ (Completed) SI (Completed) BG (Completed) GB (GB - no longer in EU/EEA) NL (Completed) ES (Completed) BE (Completed) AT (Completed) SE (Completed) PT (Completed) NO (Completed) DK (Completed) FI (Completed) PL (Completed) IT (Completed) RO (Ongoing)
    Trial results: View results
    EudraCT Number: 2021-006881-19 Sponsor Protocol Number: TV48574-IMM-20036 Start Date*: 2022-12-21
    Sponsor Name:Teva Branded Pharmaceutical Products R&D, Inc.
    Full Title: A 14-Week Phase 2b, RandomizEd, Double-BLind, Dose-Ranging Study to Determine the PharmacokInetics, Efficacy, Safety, and Tolerability of TEV-48574 in Adult PatiEnts with Moderate to Severe Ulcerat...
    Medical condition: Moderate to severe Ulcerative colitis or moderate to severe Crohn's disease
    Disease: Version SOC Term Classification Code Term Level
    20.1 100000004856 10045365 Ulcerative colitis LLT
    20.0 100000004856 10011400 Crohn's colitis LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: HU (Trial now transitioned) ES (Ongoing) SK (Trial now transitioned) PL (Trial now transitioned) FR (Trial now transitioned) AT (Ongoing) DE (Trial now transitioned) IT (Trial now transitioned) CZ (Trial now transitioned) BG (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2017-001223-49 Sponsor Protocol Number: PTC124-GD-041DMD Start Date*: 2018-01-16
    Sponsor Name:PTC Therapeutics, Inc.
    Full Title: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension
    Medical condition: Nonsense Mutation Duchenne Muscular Dystrophy
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10013801 Duchenne muscular dystrophy PT
    Population Age: Children, Adolescents, Under 18 Gender: Male
    Trial protocol: BG (Completed) PL (Completed)
    Trial results: (No results available)
    Download Options:
    Number of Trials to download:
    Download Content:
    Download Format:
    Note, where multi-state trials are shown in search results, selecting "Full Trial details" will download full information for each of the member states/countries involved in the trial.
    1  2  3  4  5  6  7  Next»
    Query did not match any studies.
    For support, Contact us.
    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.

    European Medicines Agency © 1995-Mon May 12 00:10:05 CEST 2025 | Domenico Scarlattilaan 6, 1083 HS Amsterdam, The Netherlands
    EMA HMA