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Clinical trials for Genetic disorders

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   44346   clinical trials with a EudraCT protocol, of which   7374   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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    1,721 result(s) found for: Genetic disorders. Displaying page 1 of 87.
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    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: 2021-003588-85 Sponsor Protocol Number: PSYCHIC Start Date*: 2022-01-11
    Sponsor Name:UCLouvain
    Full Title: Individualized care with antipsychotics in patients suffering from schizophrenia spectrum disorders- How to conciliate plasma concentrations, clinical response and genetic factors ?
    Medical condition: Schizophrenia, schizoaffective disorders, psychosis not otherwise specified, and dellusional disorders
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: BE (Completed)
    Trial results: View results
    EudraCT Number: 2015-001888-39 Sponsor Protocol Number: PGX-HT Start Date*: 2016-01-28
    Sponsor Name:OSPEDALE SAN RAFFAELE
    Full Title: PHARMACOGENOMICS HYPERTENSION : A NEW APPROACH FOR PERSONALIZED MEDICINE ( PGX - HT )
    Medical condition: Hypertension
    Disease: Version SOC Term Classification Code Term Level
    19.0 10047065 - Vascular disorders 10051753 Vascular calcification PT
    Population Age: Adults Gender: Male, Female
    Trial protocol: IT (Completed)
    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: 2004-005275-42 Sponsor Protocol Number: 1140 Start Date*: 2005-03-21
    Sponsor Name:AZIENDA OSPEDALIERA ISTITUTI OSPITALIERI DI VERONA
    Full Title: Study on the effect of r-hGH in combination with bisphosphonate treatment on bone metabolism in Osteogenesis Imperfecta
    Medical condition: Osteogenesis Imperfecta
    Disease: Version SOC Term Classification Code Term Level
    6.1 10010331 SOC
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: IT (Completed)
    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: 2018-002267-25 Sponsor Protocol Number: SEOTP-2018 Start Date*: 2018-07-18
    Sponsor Name:Fakultní nemocnice Brno
    Full Title: SAFETY AND EFFICACY OF OLANZAPINE TREATMENT IN PSYCHOSIS: EFFECT OF GENETIC AND EPIGENETIC FACTORS – COVARIATES OF TREATMENT RESPONSE
    Medical condition: Psychoses
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: CZ (Completed)
    Trial results: (No results available)
    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 (Completed) NO (Completed) ES (Completed) IT (Completed) NL (Completed) DE (Completed)
    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: 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
    EudraCT Number: 2017-000672-28 Sponsor Protocol Number: VX10-770-107 Start Date*: 2017-03-27
    Sponsor Name:Vertex Pharmaceuticals Incorporated
    Full Title: A Phase 2, Single-Blind, Placebo-Controlled Study to Evaluate the Effect of VX-770 on Hyperpolarized Helium-3 Magnetic Resonance Imaging in Subjects With Cystic Fibrosis, the G551D Mutation, and FE...
    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: 2016-001004-33 Sponsor Protocol Number: VX15-809-115 Start Date*: 2018-01-10
    Sponsor Name:Vertex Pharmaceuticals Incorporated
    Full Title: A Phase 3, 2-Part, Open-label Study to Evaluate the Safety and Pharmacokinetics of Lumacaftor/Ivacaftor Combination Therapy in Subjects Aged 2 Through 5 Years With Cystic Fibrosis, Homozygous for t...
    Medical condition: Cystic Fibrosis
    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: Children, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2014-001229-34 Sponsor Protocol Number: ALN-TTRSC-003 Start Date*: 2014-08-01
    Sponsor Name:Alnylam Pharmaceuticals, Inc.
    Full Title: A Phase 2, Open-label Extension Study to Evaluate the Long-Term Safety, Clinical Activity, and Pharmacokinetics of ALN-TTRSC in Patients with Transthyretin (TTR) Cardiac Amyloidosis Who Have Previo...
    Medical condition: Transthyretin (TTR) Cardiac Amyloidosis
    Disease: Version SOC Term Classification Code Term Level
    19.0 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
    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: 2017-000673-37 Sponsor Protocol Number: VX12-770-113 Start Date*: 2017-03-27
    Sponsor Name:Vertex Pharmaceuticals Incorporated
    Full Title: A Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis, Residual CFTR Function, and FEV1 ≥40% Predicted
    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: 2016-004996-33 Sponsor Protocol Number: VX15-809-114 Start Date*: 2017-05-03
    Sponsor Name:Vertex Pharmaceuticals Incoporated
    Full Title: A Phase 4, Open-label Treatment, Randomized, Multicenter, 2-arm, Parallelgroup, Pilot Study of Adherence to Lumacaftor/Ivacaftor in CF Subjects Homozygous for the F508del-CFTR Mutation
    Medical condition: Cystic fibrosis subjects Homozygous for the F508del-CFTR Mutation
    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: ES (Prematurely Ended)
    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: 2021-003250-23 Sponsor Protocol Number: 78162.018.21 Start Date*: 2025-01-24
    Sponsor Name:Amsterdam UMC
    Full Title: Cannabidiol (Epidyolex) for behavioural problems in patients with Tuberous Sclerosis Complex, Sanfilippo and Fragile X Syndrome: an N-of-1 series
    Medical condition: Tuberous Sclerosis Complex (TSC), Sanfilippo syndrome, Fragile X syndrome (FXS)
    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 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2017-000387-14 Sponsor Protocol Number: RM-493-014 Start Date*: 2017-05-24
    Sponsor Name:Rhythm Pharmaceuticals, Inc.
    Full Title: Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients with rare genetic disorders of obesity
    Medical condition: - POMC/PCSK1/LEPR heterozygous - POMC/PCSK1/LEPR compound heterozygous or homozygous deficiency obesity - POMC/PCSK1/LEPR composite heterozygous deficiency obesity - Smith-Magenis Syndrome - SH2B1...
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) ES (Ongoing) DE (Completed) FR (Ongoing) NL (Completed) GR (Completed)
    Trial results: View results
    EudraCT Number: 2011-003313-42 Sponsor Protocol Number: AGO-TEA Start Date*: 2012-03-29
    Sponsor Name:Hospital General Universitario de Alicante
    Full Title: Efficacy of agomelatine on sleep disturbance in Autism Spectrum Disorder (ASD)
    Medical condition: The treatment of sleep disorders in patients with autism spectrum disorders (ASD)
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: ES (Ongoing)
    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
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