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Clinical trials for Rare variants

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 ).  
     
    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.
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    15 result(s) found for: Rare variants. Displaying page 1 of 1.
    EudraCT Number: 2022-002329-84 Sponsor Protocol Number: APHP211039 Start Date*: 2023-01-06
    Sponsor Name:ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)
    Full Title: Eculizumab in hypertensive emergency-associated hemolytic uremic syndrome: a randomized multicenter controlled trial.
    Medical condition: Adult patients with aHUS associated with HE and severe kidney involvement (needing dialysis or serum creatinine ≥ 354µM).
    Disease: Version SOC Term Classification Code Term Level
    20.1 10005329 - Blood and lymphatic system disorders 10079840 Atypical haemolytic uraemic syndrome PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Trial now transitioned)
    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: 2021-004167-27 Sponsor Protocol Number: RM-493-033 Start Date*: 2022-03-02
    Sponsor Name:Rhythm Pharmaceuticals Limited
    Full Title: A Phase 3 Multi-Center, One-Year, Open-Label study of Setmelanotide in Pediatric Patients Aged 2 to <6 years of age with Rare Genetic Causes of Obesity
    Medical condition: POMC deficiency obesity due to mutations in the POMC gene PCSK1 deficiency due to mutations in the PCSK1 gene LEPR deficiency obesity due to mutations in the LEPR gene Bardet-Biedl syndrome
    Disease: Version SOC Term Classification Code Term Level
    23.0 10010331 - Congenital, familial and genetic disorders 10084105 Leptin receptor deficiency PT
    23.0 10010331 - Congenital, familial and genetic disorders 10083937 Pro-opiomelanocortin deficiency PT
    20.1 10010331 - Congenital, familial and genetic disorders 10048680 Bardet-Biedl syndrome LLT
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: NL (Prematurely Ended) ES (Completed)
    Trial results: View results
    EudraCT Number: 2018-002607-34 Sponsor Protocol Number: GOIRC-02-2018CHANCETrial Start Date*: 2019-02-20
    Sponsor Name:GRUPPO ONCOLOGICO ITALIANO DI RICERCA CLINICA (GOIRC)
    Full Title: Phase II, open-label study of atezolizumab in a CoHort of pretreated, Advanced Non-small cell lung cancer (NSCLC) patients with rare histologiCal subtypEs – CHANCE trial
    Medical condition: Advanced Non-small cell lung cancer (NSCLC) with rare histological subtypes
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004864 10064049 Lung adenocarcinoma metastatic LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2021-006224-40 Sponsor Protocol Number: AxGD Start Date*: Information not available in EudraCT
    Sponsor Name:Instytut ,,Pomnik-Centrum Zdrowia Dziecka"
    Full Title: Evaluation of the safety and efficacy of ambroxol (ABX) use in Polish patients with Gaucher disease, presenting neuronopathic type (GD type III, GD3) resulting from homozygous c.1448T>C mutation (p...
    Medical condition: Gaucher disease
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: PL (Completed)
    Trial results: (No results available)
    EudraCT Number: 2020-002431-30 Sponsor Protocol Number: GT005-03 Start Date*: 2020-10-21
    Sponsor Name:Gyroscope Therapeutics
    Full Title: HORIZON: A Phase II, open-label, outcomes-assessor masked, multicentre, randomised,controlled study to evaluate the safety and efficacy of two doses of GT005 administered as a single subretinal inj...
    Medical condition: Age-related Macular Degeneration (AMD) presents as a progressive loss of vision in the centre of the retina (the macula) resulting in a blurred area or blank spot in the centre of vision. The prima...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004853 10075719 Atrophic age-related macular degeneration LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Completed) FR (Completed) IE (Completed)
    Trial results: View results
    EudraCT Number: 2016-000547-14 Sponsor Protocol Number: BGOG-cx3 Start Date*: 2017-08-30
    Sponsor Name:BGOG-UZLeuven
    Full Title: BGOG-cx3: Prospective randomized Phase II trial comparing doxorubicin alone versus doxorubicin and atezolizumab in recurrent cervical cancer
    Medical condition: recurrent cervical cancer
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004864 10065147 Malignant solid tumor LLT
    Population Age: Adults, Elderly Gender: Female
    Trial protocol: BE (Completed)
    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: 2023-000185-34 Sponsor Protocol Number: VAL1221-ITLAFORA-01 Start Date*: 2023-04-19
    Sponsor Name:AZIENDA USL DI BOLOGNA
    Full Title: A SINGLE ARM, OPEN-LABEL, PHASE 2 STUDY TO ASSESS THE SAFETY AND EFFICACY OF VAL-1221 ON SUBJECTS WITH LAFORA DISEASE
    Medical condition: patients with mid- to late stage Lafora Desease
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10054030 Lafora's myoclonic epilepsy PT
    20.0 10010331 - Congenital, familial and genetic disorders 10054030 Lafora's myoclonic epilepsy PT
    20.0 10010331 - Congenital, familial and genetic disorders 10054030 Lafora's myoclonic epilepsy PT
    20.0 10010331 - Congenital, familial and genetic disorders 10054030 Lafora's myoclonic epilepsy PT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2014-005338-74 Sponsor Protocol Number: CLFG316X2201 Start Date*: 2015-06-17
    Sponsor Name:Novartis Pharma Services AG
    Full Title: An open-label proof of concept study to assess the efficacy, safety and pharmacokinetics of LFG316, an anti-C5 monoclonal antibody in patients with paroxysmal nocturnal hemoglobinuria (PNH)
    Medical condition: Paroxysmal nocturnal hemoglobinuria
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004857 10055629 Paroxysmal nocturnal hemoglobinuria LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: CZ (Completed) LT (Completed)
    Trial results: View results
    EudraCT Number: 2006-003817-42 Sponsor Protocol Number: NILG-AML 02/06 Start Date*: 2006-09-11
    Sponsor Name:AZIENDA OSPEDALIERA OSPEDALI RIUNITI DI BERGAMO A.O. DI RILIEVO NAZIONALE
    Full Title: A phase III trial in adult acute myelogenous leukemia AML comparing 1 standard-dose versus high-dose remission induction therapy and 2 , within a risk-oriented postremission strategy, an autolo...
    Medical condition: PATIENT WHIT LMA
    Disease: Version SOC Term Classification Code Term Level
    8.1 10024291 Leukaemias acute myeloid HLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2009-013483-38 Sponsor Protocol Number: CC-5013-DLC-001 Start Date*: 2010-07-20
    Sponsor Name:Celgene Corporation
    Full Title: A PHASE 2/3 MULTICENTER, RANDOMIZED OPEN-LABEL STUDY TO COMPARE THE EFFICACY AND SAFETY OF LENALIDOMIDE (REVLIMID®) VERSUS INVESTIGATOR’S CHOICE IN PATIENTS WITH RELAPSED OR REFRACTORY DIFFUSE LARG...
    Medical condition: RELAPSED OR REFRACTORY DIFFUSE LARGE B-CELL LYMPHOMA
    Disease: Version SOC Term Classification Code Term Level
    15.1 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) 10012821 Diffuse large B-cell lymphoma recurrent PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: SE (Completed) CZ (Completed) AT (Completed) GB (Completed) ES (Completed) IT (Completed) FR (Completed)
    Trial results: View results
    EudraCT Number: 2020-002761-33 Sponsor Protocol Number: R3918-PNH-2022 Start Date*: 2022-05-02
    Sponsor Name:REGENERON PHARMACEUTICALS, INC.
    Full Title: A RANDOMIZED, OPEN-LABEL ECULIZUMAB AND RAVULIZUMAB CONTROLLED STUDY TO EVALUATE THE EFFICACY AND SAFETY OF POZELIMAB AND CEMDISIRAN COMBINATION THERAPY IN PATIENTS WITH PAROXYSMAL NOCTURNAL HEMOGL...
    Medical condition: Paroxysmal nocturnal hemoglobinuria (PNH)
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004857 10055629 Paroxysmal nocturnal hemoglobinuria LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Prematurely Ended) DE (Completed) ES (Prematurely Ended) FR (Prematurely Ended) PL (Completed) GR (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2020-004486-40 Sponsor Protocol Number: R3918-PNH-2021 Start Date*: 2022-04-04
    Sponsor Name:REGENERON PHARMACEUTICALS, INC.
    Full Title: A RANDOMIZED, OPEN-LABEL, RAVULIZUMAB-CONTROLLED STUDY TO EVALUATE THE EFFICACY AND SAFETY OF POZELIMAB AND CEMDISIRAN COMBINATION THERAPY IN PATIENTS WITH PAROXYSMAL NOCTURNAL HEMOGLOBINURIA WHO A...
    Medical condition: Paroxysmal nocturnal hemoglobinuria (PNH)
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004857 10055629 Paroxysmal nocturnal hemoglobinuria LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Trial now transitioned) ES (Ongoing) PL (Trial now transitioned) GR (Trial now transitioned) HU (Trial now transitioned) RO (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2017-002541-29 Sponsor Protocol Number: PVO-1A-301 Start Date*: 2017-12-14
    Sponsor Name:Clementia Pharmaceuticals Inc
    Full Title: A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP)
    Medical condition: Fibrodysplasia Ossificans Progressiva (FOP)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10068715 Fibrodysplasia ossificans progressiva PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) SE (Completed) ES (Ongoing) DE (Completed) FR (Completed) NL (Ongoing) IT (Completed) Outside EU/EEA
    Trial results: View results
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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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