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Clinical trials for OMIM

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   44344   clinical trials with a EudraCT protocol, of which   7373   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.
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    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.
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    6 result(s) found for: OMIM. Displaying page 1 of 1.
    EudraCT Number: 2014-000608-90 Sponsor Protocol Number: Eltrombo-IT-2014 Start Date*: 2014-12-15
    Sponsor Name:Fondazione IRCCS Policlinico San Matteo
    Full Title: Eltrombopag for inherited thrombocytopenias.
    Medical condition: Inherited thrombocytopenias
    Disease: Version SOC Term Classification Code Term Level
    17.0 100000004851 10043555 Thrombocytopenias HLT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2022-003299-17 Sponsor Protocol Number: 22-1005-CALCIFADE Start Date*: 2023-03-20
    Sponsor Name:University Medical Center Utrecht
    Full Title: A randomized, placebo-controlled, double blind trial to study the effects of Etidronate on ectopic CALCIfication in FAhr’s Disease.
    Medical condition: Fahr’s disease or sondrome is a neurodegenerative disease in which all patients present with bilateral vessel associated calcifications in the basal ganglia in the absence of other secondary causes...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10059626 Fahr's disease LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2012-000432-26 Sponsor Protocol Number: versie1,dd01-02-2012 Start Date*: 2012-09-26
    Sponsor Name:Maastricht University Medical Centre
    Full Title: Prospective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki Syndrome
    Medical condition: Kabuki Syndrome (KS, OMIM 147920) with a mutation in MLL2 gene.
    Disease:
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2021-003777-63 Sponsor Protocol Number: 202100482 Start Date*: Information not available in EudraCT
    Sponsor Name:University Medical Center Groningen
    Full Title: Tetrahydrobiopterin (BH4) treatment in Phenylketonuria - comparing different practices of dosing regimen
    Medical condition: Phenylketonuria (PKU; OMIM 261600)
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2014-001342-21 Sponsor Protocol Number: NCTUTRK1(6840) Start Date*: 2014-09-04
    Sponsor Name:Newcastle upon Tyne Hospitals NHS Foundation Trust
    Full Title: Topical tropomysin kinase (TRK) inhibitor as a treatment for inherited CYLD defective skin tumours (TRAC)
    Medical condition: Patients with germline CYLD mutations (OMIM 605018). These include Brooke-Spiegler Syndrome, familial cylindromatosis and multiple familial trichoepitheliomas (OMIM #605041, #132700, #601606 respec...
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2009-017837-23 Sponsor Protocol Number: SXF-TRA-152 Start Date*: 2010-09-27
    Sponsor Name:Yolanda de Diego Otero
    Full Title: Ensayo piloto fase II de tratamiento doble ciego, aleatorizado, de una vía cruzada, para investigar la efectividad y seguridad de la combinación de Ácido Ascórbico (vitamina C) y Tocoferol (vitamin...
    Medical condition: Sindrome X frágil. CIE12 : 759.83. enfermedad rara. ORPHA 908. OMIM NUMBER 300264
    Disease: Version SOC Term Classification Code Term Level
    11 10003453 Ácido ascórbico disminuido LLT
    Population Age: Children, Adolescents, Under 18 Gender: Male
    Trial protocol: ES (Completed)
    Trial results: (No results available)
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    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.
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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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