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Clinical trials for Congenital 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
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    Clinical Trials Information System (CTIS).

    The EU Clinical Trials Register currently displays   44339   clinical trials with a EudraCT protocol, of which   7369   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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    1,385 result(s) found for: Congenital disorders. Displaying page 8 of 70.
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    EudraCT Number: 2018-001686-17 Sponsor Protocol Number: P170925J Start Date*: Information not available in EudraCT
    Sponsor Name:ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)
    Full Title:
    Medical condition: Patients older than 15 years with hematologic or pulmonary lesions of telomeropathies.
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10062759 Congenital dyskeratosis PT
    Population Age: Adolescents, Under 18 Gender: Male, Female
    Trial protocol: FR (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2005-003139-38 Sponsor Protocol Number: CE1145_3003 Start Date*: 2015-02-12
    Sponsor Name:ZLB Behring GmbH
    Full Title: Open-label extension study of CE1145 (Human pasteurized C1 esterase inhibitor concentrate) in subjects with congenital C1-INH deficiency and acute HAE attacks
    Medical condition: Congenital C1-INH deficiency
    Disease: Version SOC Term Classification Code Term Level
    17.1 10010331 - Congenital, familial and genetic disorders 10019860 Hereditary angioedema PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2011-006197-88 Sponsor Protocol Number: FANCOSTEM-1 Start Date*: 2012-03-22
    Sponsor Name:Cristina Díaz de Heredia Rubio
    Full Title: Clinical Phase II Trial to evaluate efficacy and safety of CD34+ cells mobilization and collection after treatment with plerixafor and filgrastim in patients with Fanconi anemia for subsequent tra...
    Medical condition: Fanconi anemia
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10055206 Fanconi's anemia LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: ES (Completed)
    Trial results: View results
    EudraCT Number: 2011-000321-69 Sponsor Protocol Number: PHRCN10-Pr.DEVAUCHELLE Start Date*: 2014-03-06
    Sponsor Name:CHU Amiens
    Full Title: Evaluation prospective de l’efficacité du sirolimus (Rapamune) dans le traitement des malformations artério-veineuses superficielles
    Medical condition: Malformations artério-veineuses superficielles
    Disease: Version SOC Term Classification Code Term Level
    14.0 10010331 - Congenital, familial and genetic disorders 10003229 Arteriovenous malformations LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2012-002574-31 Sponsor Protocol Number: US1/001/10(TDU13600) Start Date*: 2013-10-25
    Sponsor Name:sanofi-aventis recherche & développement
    Full Title: A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients with Retinitis Pigmentosa Associated with Usher Syndrome Type 1B
    Medical condition: Retinitis Pigmentosa, associated with Ushers Syndrome Type 1B.
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10038914 Retinitis pigmentosa PT
    20.0 10010331 - Congenital, familial and genetic disorders 10063396 Usher's syndrome PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: View results
    EudraCT Number: 2008-006465-85 Sponsor Protocol Number: BENEFIX Start Date*: 2009-09-10
    Sponsor Name:AZIENDA OSPEDALIERA UNIVERSITARIA CAREGGI
    Full Title: Pharmacokinetic evaluation of a new formulation of recombinant factor IX (BeneFIX) in the italian population with severe or moderate B haemophilia previously treated.
    Medical condition: Patients with severe or moderate B Haemophilia, previously treated with rFIX.
    Disease: Version SOC Term Classification Code Term Level
    9.1 10010331 SOC
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male
    Trial protocol: IT (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2008-007997-39 Sponsor Protocol Number: B1831004(3082B2-4432-WW) Start Date*: 2009-04-09
    Sponsor Name:Wyeth Pharmaceuticals, Inc. Acting through its division Wyeth Research, a Pfizer Company
    Full Title: A Postauthorization Safety Surveillance Study of Patients Switching to ReFacto AF From ReFacto or Other Factor VIII Products in Usual Care Settings
    Medical condition: Severe haemophilia A (FVIII:C <1%) in male patients ≥12 years of age with a treatment history of >150 EDs to prior recombinant or plasma-derived FVIII replacement products and transitioning to ReFa...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10018937 Haemophilia A LLT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male
    Trial protocol: DE (Completed) BE (Completed) ES (Completed) SE (Completed) AT (Completed) FI (Completed) DK (Completed) FR (Completed) IT (Completed) PT (Prematurely Ended) NL (Completed) GB (Completed) CZ (Completed) GR (Completed) HU (Completed)
    Trial results: View results
    EudraCT Number: 2018-002405-64 Sponsor Protocol Number: CMS-002 Start Date*: 2019-05-06
    Sponsor Name:CATALYST PHARMACEUTICALS INC.
    Full Title: Long term safety study of amifampridine phosphate in patients with Congenital Myasthenic Syndromes (CMS)
    Medical condition: Congenital Myasthenic Syndromes (CMS)
    Disease: Version SOC Term Classification Code Term Level
    21.1 10029205 - Nervous system disorders 10028424 Myasthenic syndrome PT
    20.0 10029205 - Nervous system disorders 10028425 Myasthenic syndromes in diseases classified elsewhere LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2012-004583-22 Sponsor Protocol Number: 548.12 Start Date*: 2012-10-20
    Sponsor Name:OSPEDALE PEDIATRICO BAMBINO GESU' DI ROMA
    Full Title: Verification of the effectiveness of intravenous sildenafil compared to other pulmonary vasodilators used in the test vessel reactivity of pulmonary
    Medical condition: Subjects in children with congenital heart disease surgery or not, with echocardiographic signs of pulmonary hypertension followed at the Pediatric Cardiology Centre of the Mediterranean or reporte...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10047065 - Vascular disorders 10047065 Vascular disorders SOC
    Population Age: In utero, Preterm newborn infants, Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2005-002088-98 Sponsor Protocol Number: AN01.01.0012 Start Date*: 2005-11-07
    Sponsor Name:Amarin Neuroscience Ltd
    Full Title: Full title of the trial : A multicentre, multi-national, double-blind, randomised, parallel group placebo-controlled trial of ethyl-EPA (ethyl-icosapent) in patients with Huntington’s Disease
    Medical condition: HUNTINGTON’S DISEASE
    Disease: Version SOC Term Classification Code Term Level
    8.0 10010331 LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Prematurely Ended) ES (Ongoing) AT (Prematurely Ended) IT (Prematurely Ended) PT (Prematurely Ended) DE (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2016-000301-37 Sponsor Protocol Number: EFC13738 Start Date*: 2018-10-09
    Sponsor Name:Genzyme Corporation
    Full Title: Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3
    Medical condition: Congenital, hereditary and neonatal diseases
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10075697 Gaucher's disease type I PT
    20.0 10010331 - Congenital, familial and genetic disorders 10075699 Gaucher's disease type III PT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: SE (Completed) IT (Trial now transitioned) NL (Ongoing) ES (Ongoing) Outside EU/EEA GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    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: 2012-003632-23 Sponsor Protocol Number: NI-0501-04 Start Date*: 2016-02-24
    Sponsor Name:NovImmune SA
    Full Title: A Phase 2/3, Open-label, Single Arm, Multicentre Study to Assess Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Multiple Administrations of NI-0501, an Anti-interferon Gamma (An...
    Medical condition: Haemophagocytic lymphohistiocytosis
    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: Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (Completed) IT (Completed) AT (Completed) CZ (Completed) DE (Completed) ES (Prematurely Ended) SE (Completed)
    Trial results: View results
    EudraCT Number: 2020-000504-11 Sponsor Protocol Number: NN7415-4616 Start Date*: 2022-04-05
    Sponsor Name:NOVO NORDISK. S.P.A.
    Full Title: Open-label study investigating efficacy, safety and pharmacokinetics of concizumab prophylaxis in children below 12 years with haemophilia A or B with or without inhibitors
    Medical condition: Haemophilia A with or without inhibitors Haemophilia B with our without inhibitors
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10053752 Hemophilia B with anti factor IX LLT
    20.1 100000004850 10053754 Hemophilia B without inhibitors LLT
    20.0 100000004850 10053753 Hemophilia A without inhibitors LLT
    20.0 100000004850 10053751 Hemophilia A with anti factor VIII LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male
    Trial protocol: IT (Trial now transitioned) NO (Trial now transitioned) GR (Trial now transitioned) SE (Trial now transitioned) LT (Trial now transitioned) EE (Completed) BG (Trial now transitioned) PL (Trial now transitioned) FR (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2019-003028-19 Sponsor Protocol Number: PS_KSS_001_2019 Start Date*: 2019-10-30
    Sponsor Name:IRCCS, OSPEDALE PEDIATRICO BAMBINO GESÙ DI ROMA
    Full Title: Clinical-instrumental definition of the phenotypic spectrum, response to treatment and natural history in Pearson and Kearns-Sayre syndrome
    Medical condition: Pearson and Kearns-Sayre syndrome.
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10058799 Mitochondrial encephalomyopathy PT
    20.1 10010331 - Congenital, familial and genetic disorders 10058799 Mitochondrial encephalomyopathy PT
    20.1 10010331 - Congenital, familial and genetic disorders 10051403 Mitochondrial DNA deletion PT
    20.1 10010331 - Congenital, familial and genetic disorders 10051403 Mitochondrial DNA deletion PT
    20.0 10010331 - Congenital, familial and genetic disorders 10074070 Mitochondrial encephalopathy LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: IT (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2011-004491-10 Sponsor Protocol Number: CAC-001-01 Start Date*: 2011-10-06
    Sponsor Name:Asklepion Pharmaceuticals, LLC
    Full Title: An Open-Label, Single-Center, Nonrandomized Study to Compare the Therapeutic Efficacy of To Be Marketed (TBM) Cholic Acid Capsules with that of the Currently Used (CU) Formulation of Cholic Acid Ca...
    Medical condition: Patients with inborn errors of bile acid synthesis and metabolism
    Disease: Version SOC Term Classification Code Term Level
    14.0 10010331 - Congenital, familial and genetic disorders 10070882 Inborn error in primary bile acid synthesis PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2014-002710-23 Sponsor Protocol Number: P140203 Start Date*: Information not available in EudraCT
    Sponsor Name:ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)
    Full Title:
    Medical condition:
    Disease: Version SOC Term Classification Code Term Level
    18.0 10010331 - Congenital, familial and genetic disorders 10054935 Aicardi's syndrome PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: FR (Completed)
    Trial results: (No results available)
    EudraCT Number: 2015-003995-65 Sponsor Protocol Number: TAKICARD-1 Start Date*: 2015-11-25
    Sponsor Name:Västra Götalandsregionen, Sahlgrenska University Hospital /Queen Silvia children's hospital
    Full Title: Pharmacokinetics of ANP, a diuretic hormone, in neonates undergoing surgery for congenital heart defects. A pilot study.
    Medical condition: Acute renal failure after heart surgery
    Disease: Version SOC Term Classification Code Term Level
    18.0 10038359 - Renal and urinary disorders 10038447 Renal failure neonatal PT
    Population Age: Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: SE (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2011-004259-38 Sponsor Protocol Number: CAC-91-10-10 Start Date*: 2011-10-06
    Sponsor Name:Asklepion Pharmaceuticals, LLC
    Full Title: Investigation in the Pathogenesis of Liver Disease in Patients with Inborn Errors of bile Acid Metabolism
    Medical condition: Patients with inborn errors of bile acid synthesis and metabolism
    Disease: Version SOC Term Classification Code Term Level
    14.0 10010331 - Congenital, familial and genetic disorders 10070882 Inborn error in primary bile acid synthesis PT
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: (No results available)
    EudraCT Number: 2013-003228-35 Sponsor Protocol Number: 18072013 Start Date*: 2014-07-16
    Sponsor Name:Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR)
    Full Title: Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients
    Medical condition: Cystinosis
    Disease: Version SOC Term Classification Code Term Level
    16.1 10010331 - Congenital, familial and genetic disorders 10011777 Cystinosis PT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: ES (Completed)
    Trial results: View results
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