Flag of the European Union EU Clinical Trials Register Help

Clinical trials for Single gene disorder

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
     
    90 result(s) found for: Single gene disorder. Displaying page 1 of 5.
    1  2  3  4  5  Next»
    EudraCT Number: 2014-000274-20 Sponsor Protocol Number: GNT-WAS-03 Start Date*: 2014-05-14
    Sponsor Name:Genethon
    Full Title: LONG TERM SAFETY FOLLOW UP OF PATIENTS ENROLLED IN THE PHASE I/II CLINICAL TRIAL OF HAEMATOPOIETIC STEM CELL GENE THERAPY FOR THE WISKOTT-ALDRICH SYNDROME(GTG 002-07 AND GTG 003-08)
    Medical condition: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency caused by mutations in a single gene ,the Wiskott-Aldrich Syndrome Protein (WASP). WAS is characterised by micro-thrombocytopeni...
    Disease: Version SOC Term Classification Code Term Level
    19.1 10010331 - Congenital, familial and genetic disorders 10047992 Wiskott-Aldrich syndrome PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male
    Trial protocol: GB (GB - no longer in EU/EEA) FR (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2011-004349-42 Sponsor Protocol Number: NP27936 Start Date*: 2012-07-16
    Sponsor Name:F. Hoffmann-La Roche Ltd.
    Full Title: A randomized, double-blind, 12- week, parallel group, placebo-controlled study of the efficacy and safety of RO4917523 in patients with Fragile X Syndrome.
    Medical condition: Fragile X Syndrome (FXS)
    Disease: Version SOC Term Classification Code Term Level
    14.1 100000004873 10025463 Major depressive disorder, single episode LLT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (Completed) SE (Completed) ES (Completed)
    Trial results: Removed from public view
    EudraCT Number: 2018-004089-33 Sponsor Protocol Number: DYN101-C101 Start Date*: 2019-08-27
    Sponsor Name:Dynacure SAS
    Full Title: A Phase 1/2 trial on the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of DYN101 in patients ≥ 16 years of age with centronuclear myopathies caused by mutations ...
    Medical condition: Centronuclear myopathies (CNMs) in patients ≥ 16 years of age with mutations in DNM2 or MTM1
    Disease:
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed) DK (Prematurely Ended) BE (Prematurely Ended) NL (Ongoing) DE (Prematurely Ended) GB (GB - no longer in EU/EEA)
    Trial results: View results
    EudraCT Number: 2007-004308-11 Sponsor Protocol Number: GTG002.07 Start Date*: 2010-01-11
    Sponsor Name:Genethon
    Full Title: PHASE I/II CLINICAL TRIAL OF HAEMATOPOIETIC STEM CELL GENE THERAPY FOR THE WISKOTT-ALDRICH SYNDROME
    Medical condition: Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency caused by mutations in a single gene ,the Wiskott-Aldrich Syndrome Protein (WASP). WAS is characterised by micro-thrombocytopenia,...
    Disease: Version SOC Term Classification Code Term Level
    19.1 10010331 - Congenital, familial and genetic disorders 10047992 Wiskott-Aldrich syndrome PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18 Gender: Male
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2006-001039-23 Sponsor Protocol Number: Alc 2006 - 01 Start Date*: 2006-04-10
    Sponsor Name:ISTITUTO NEUROLOGICO "CARLO BESTA"
    Full Title: A Pilot Phase II Study for the evaluation of efficacy and tolerability of Gammaidroxybutyrate (ALCOVER) administered by oral route as add on treatmant in patients affected by DYT 11 Myoclonic Dysto...
    Medical condition: DYT 11 Myoclonic Dystonia.
    Disease: Version SOC Term Classification Code Term Level
    9.1 10029205 Nervous system disorders SOC
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2019-001878-28 Sponsor Protocol Number: 307-201 Start Date*: 2019-12-17
    Sponsor Name:BioMarin Pharmaceutical Inc.
    Full Title: A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects...
    Medical condition: Phenylketonuria
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10034872 Phenylketonuria PT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2018-004024-11 Sponsor Protocol Number: SHP648-101 Start Date*: 2020-05-04
    Sponsor Name:Baxalta Innovations GmbH
    Full Title: An Open-Label, Multinational, Phase 1/2 Study of the Safety and Dose Escalation of SHP648, an Adeno-Associated Virus Serotype 8 (AAV8) Vector Expressing FIX Padua in Hemophilia B Subjects
    Medical condition: Hemophilia B is a X-linked recessive bleeding disorder caused by mutations in the gene encoding clotting factor IX (FIX) that result in disruption of the normal clotting pathway. Hemophilia B affec...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10060614 Hemophilia B (Factor IX) LLT
    Population Age: Adults, Elderly Gender: Male
    Trial protocol: DE (Prematurely Ended) HU (Prematurely Ended) ES (Prematurely Ended) AT (Prematurely Ended) FR (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2010-024253-36 Sponsor Protocol Number: 10MI29 Start Date*: 2012-08-03
    Sponsor Name:Great Ormond Street Hospital for Children NHS Trust
    Full Title: Phase I/II, historical controlled, open-label, non-randomised, single-centre trial to assess the safety and efficacy of EF1αS-ADA lentiviral vector mediated gene modification of autologus CD34+ cel...
    Medical condition: Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). Children with SCID lack virtually all immune protect...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000012248 10066372 ADA deficiency LLT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2016-000925-38 Sponsor Protocol Number: UCL13/0076 Start Date*: 2017-01-04
    Sponsor Name:University College London (UCL)
    Full Title: GO-8: Gene therapy for haemophilia A using a novel serotype 8 capsid pseudotyped adeno-associated viral vector encoding Factor VIII-V3
    Medical condition: Severe Haemophilia A
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10060612 Hemophilia A LLT
    20.0 100000004850 10060613 Hemophilia A (Factor VIII) LLT
    Population Age: Adults, Elderly Gender: Male
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2011-004410-42 Sponsor Protocol Number: C11-09 Start Date*: 2012-11-26
    Sponsor Name:Inserm
    Full Title: A phase I/II, open labeled, monocentric study of direct intracranial administration of a replication deficient adeno-associated virus gene transfer vector serotype rh.10 expressing the human ARSA c...
    Medical condition: Early onset forms of MLD
    Disease: Version SOC Term Classification Code Term Level
    14.1 10029205 - Nervous system disorders 10029205 Nervous system disorders SOC
    14.1 10010331 - Congenital, familial and genetic disorders 10067609 Metachromatic leukodystrophy PT
    14.1 10027433 - Metabolism and nutrition disorders 10027433 Metabolism and nutrition disorders SOC
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: (No results available)
    EudraCT Number: 2010-019423-61 Sponsor Protocol Number: GENRAS Start Date*: 2010-10-28
    Sponsor Name:Medizinische Universität Wien,Univ.Klinik f.Psychiatrie und Psychotherapie
    Full Title: GENRAS (GENetics of Response to Agomelatine vs. EScitalopram)
    Medical condition: depressive disorder
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: AT (Completed)
    Trial results: View results
    EudraCT Number: 2011-003190-29 Sponsor Protocol Number: HMNC-101 Start Date*: 2012-01-30
    Sponsor Name:HolsboerMaschmeyer NeuroChemie (HMNC) GmbH
    Full Title: Optimizing Antidepressant Treatment by Genotype-dependent Adjustment of Medication according to the the ABCB1 Gene
    Medical condition: - Major Depression, single or recurrent, without psychotic features - Bipolar Disorders, currently depressed, without psychotic features
    Disease: Version SOC Term Classification Code Term Level
    14.1 10037175 - Psychiatric disorders 10057840 Major depression PT
    14.1 10037175 - Psychiatric disorders 10004939 Bipolar I disorder PT
    14.1 10037175 - Psychiatric disorders 10004940 Bipolar II disorder PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2018-000156-18 Sponsor Protocol Number: 301OTC02 Start Date*: 2018-08-15
    Sponsor Name:Ultragenyx Pharmaceutical, Inc.
    Full Title: A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Lat...
    Medical condition: Ornithine transcarbamylase deficiency
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10071107 Ornithine transcarbamylase deficiency LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) ES (Trial now transitioned) FR (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2014-003080-38 Sponsor Protocol Number: GOAT_1-2_1407 Start Date*: 2015-06-26
    Sponsor Name: Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour
    Full Title: Glutamatergic medication in the treatment of Obsessive Compulsive Disorder (OCD) and Autism Spectrum Disorder (ASD)
    Medical condition: - Obsessive-compulsive disorder - Autistic Diorder, Aspergers' Disorder, PDD NOS
    Disease:
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) GB (GB - no longer in EU/EEA)
    Trial results: View results
    EudraCT Number: 2015-005576-22 Sponsor Protocol Number: 201501 Start Date*: 2018-05-22
    Sponsor Name:BAXALTA INNOVATIONS GMBH
    Full Title: A Global, Open-Label, Multicenter, Phase 1/2 Study of the Safety and Dose Escalation of BAX 888, an Adeno-Associated Virus Serotype 8 (AAV8) Vector Expressing B-Domain Deleted Factor VIII (BDD-FVII...
    Medical condition: Hemophilia A is a rare congenital disease characterized by reduced or absent levels of the coagulation FVIII. It occurs in approximately 1 in 5,000 live male births. Mutations of the FVIII gene res...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10060613 Hemophilia A (Factor VIII) LLT
    Population Age: Adults, Elderly Gender: Male
    Trial protocol: IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2008-002857-18 Sponsor Protocol Number: H9P-MC-LNBI Start Date*: 2009-02-06
    Sponsor Name:Eli Lilly and Company
    Full Title: A Randomized, Double-Blind Comparison of LY2216684 and Placebo and Long Term Treatment with LY2216684 in Adult Patients with Major Depressive Disorder
    Medical condition: Patients with Major Depressive Disorder, as defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision® (DSM-IV-TR; APA 2004),
    Disease: Version SOC Term Classification Code Term Level
    9.1 10025453 Major depressive disorder NOS LLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: FI (Completed)
    Trial results: View results
    EudraCT Number: 2016-003430-25 Sponsor Protocol Number: 101HEMB02 Start Date*: 2017-05-18
    Sponsor Name:Ultragenyx Pharmaceutical, Inc.
    Full Title: A Long-Term Follow-up Study to Evaluate the Safety, Tolerability, and Efficacy of Adeno-Associated Virus (AAV) rh10-Mediated Gene Transfer of Human Factor IX in Adults With Moderate/Severe to Sever...
    Medical condition: Moderate/severe to severe hemophilia B
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10060614 Hemophilia B (Factor IX) LLT
    Population Age: Adults, Elderly Gender: Male
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: View results
    EudraCT Number: 2021-006800-34 Sponsor Protocol Number: RONIN Start Date*: 2022-03-31
    Sponsor Name:FONDAZIONE IRCCS CA' GRANDA OSPEDALE MAGGIORE POLICLINICO
    Full Title: The Role of Negr1 In modulating Neuroplasticity in major depression
    Medical condition: patients with major depression
    Disease: Version SOC Term Classification Code Term Level
    21.1 10037175 - Psychiatric disorders 10057840 Major depression PT
    21.1 10037175 - Psychiatric disorders 10057840 Major depression PT
    Population Age: Adults Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2020-001109-22 Sponsor Protocol Number: PBGM01-001 Start Date*: Information not available in EudraCT
    Sponsor Name:Passage Bio, Inc.
    Full Title: A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered into the Cisterna Magna of Pediatric Su...
    Medical condition: GM1 gangliosidosis (GM1) is an autosomal recessive disorder that results from mutations in the human galactosidase beta 1 gene (GLB1), which encodes beta-galactosidase (β-gal).
    Disease:
    Population Age: Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2020-000712-30 Sponsor Protocol Number: ABR-71432 Start Date*: 2021-06-07
    Sponsor Name:Radboudumc
    Full Title: Targeted glucocorticoid administration to improve safety learning in PTSD patients with HPA axis dysregulation
    Medical condition: Posttraumatic Stress Disorder (PTSD)
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004873 10036876 Prolonged posttraumatic stress disorder LLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: NL (Trial now transitioned)
    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  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-Sun May 11 23:49:01 CEST 2025 | Domenico Scarlattilaan 6, 1083 HS Amsterdam, The Netherlands
    EMA HMA