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Clinical trials for Autosomal recessive 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
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    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 ).  
     
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    30 result(s) found for: Autosomal recessive disorder. Displaying page 1 of 2.
    1  2  Next»
    EudraCT Number: 2020-005991-36 Sponsor Protocol Number: 156-12-204 Start Date*: 2022-10-07
    Sponsor Name:Otsuka Pharmaceutical Development & Commercialization, Inc.
    Full Title: A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 12 weeks of Age with Autosomal Recessive Polycystic Kidne...
    Medical condition: Autosomal Recessive Polycystic Kidney Disease (ARPKD)
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10036047 Polycystic kidney, autosomal recessive LLT
    Population Age: Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: DE (Trial now transitioned) ES (Ongoing) BE (Trial now transitioned) PL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2020-005992-10 Sponsor Protocol Number: 156-201-00307 Start Date*: Information not available in EudraCT
    Sponsor Name:Otsuka Pharmaceutical Development & Commercialization, Inc.
    Full Title: A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidne...
    Medical condition: Autosomal Recessive Polycystic Kidney Disease (ARPKD)
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10036047 Polycystic kidney, autosomal recessive LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Trial now transitioned) ES (Ongoing) BE (Trial now transitioned) PL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2012-005340-24 Sponsor Protocol Number: SONIA1 Start Date*: 2013-02-26
    Sponsor Name:University of Liverpool (UniLiv)
    Full Title: An international, multicentre, randomised, open-label, no-treatment controlled, parallel group, dose-response study to investigate the effect of once daily nitisinone on 24-hour urinary homogentisi...
    Medical condition: Alkaptonuria (AKU) - a serious, autosomal recessive, multisystem disorder
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2010-021343-41 Sponsor Protocol Number: ME040 Start Date*: 2014-03-21
    Sponsor Name:University Medical Center Groningen
    Full Title: Effect of sapropterin on variations of blood phenylalanine and tyrosine over 24 hours and from day to day in children with phenylketonuria
    Medical condition: Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. Left untreated, the ...
    Disease:
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2009-015895-87 Sponsor Protocol Number: Fuijkschot Start Date*: 2009-12-23
    Sponsor Name:UMC St Radboud
    Full Title: Application of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome
    Medical condition: Sjögren Larsson syndrome (SLS) is an autosomal recessive inherited neurometabolic disorder which is characterized by a clinical triad of congenital ichthyosis, spastic di- or tetraplegia and mental...
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: View results
    EudraCT Number: 2007-003357-85 Sponsor Protocol Number: FRI200701 Start Date*: 2007-10-10
    Sponsor Name:ISTITUTO NEUROLOGICO "CARLO BESTA"
    Full Title: Randomized placebo-controlled double-blind trial to assess safety and efficacy of erythropoietin in adult patients with Friedreich's ataxia (a pilot study)
    Medical condition: Friedreich ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder caused a mutation in the FXN gene, which encodes a protein named frataxin. As a result of the mutation, frataxin is...
    Disease: Version SOC Term Classification Code Term Level
    6.1 10003591 PT
    Population Age: Adults Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2008-000830-30 Sponsor Protocol Number: ZLB07_002CR Start Date*: 2008-07-10
    Sponsor Name:CSL Behring AG
    Full Title: A Multicenter Extension Study of the Efficacy, Tolerability, and Safety of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects with Primary Immunodeficiency (IgPro20 EU Extension Study)
    Medical condition: PID (primary immuno deficiency)
    Disease: Version SOC Term Classification Code Term Level
    9.1 10064859 Primary immunodeficiency syndrome LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) ES (Completed) FR (Completed) SE (Completed) GB (Completed)
    Trial results: View results
    EudraCT Number: 2016-001955-29 Sponsor Protocol Number: 024PKAN15004 Start Date*: Information not available in EudraCT
    Sponsor Name:Retrophin, Inc.
    Full Title: Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), a Phosphopantothenate replacement therapy, in patients with Pantothenate Kinase-associated Neurodegeneration (PKAN): A Randomized, ...
    Medical condition: Pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive genetic disorder, the most common form of Neurodegeneration with Brain Iron Accumulation (NBIA). It is a progressive,...
    Disease: Version SOC Term Classification Code Term Level
    21.1 10029205 - Nervous system disorders 10053643 Neurodegenerative disorder PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) ES (Prematurely Ended) GB (Prematurely Ended) CZ (Prematurely Ended) NO (Completed) FR (Completed) PL (Prematurely Ended) IT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2013-001600-11 Sponsor Protocol Number: MP4CO-13-SCD-206 Start Date*: 2013-09-25
    Sponsor Name:Sangart, Inc.
    Full Title: A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects with Sickle Cell Disease
    Medical condition: Sickle cell disease (SCD) is an autosomal recessive disorder of the β globin gene of the hemoglobin molecule. One single point mutation results in a lifetime of chronic morbidity and mortality. Vas...
    Disease:
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Prematurely Ended) BE (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2009-015217-52 Sponsor Protocol Number: Uni-Koeln-1251 Start Date*: 2010-06-08
    Sponsor Name:University of Cologne
    Full Title: Pilotstudie zur Pyridoxalphosphattherapie bei Patienten mit primärer Hyperoxalurie Typ I - Pilot trial on treatment of patients with primary hyperoxaluria type I with pyridoxal-phosphate
    Medical condition: In this study we will prospectively analyze the reduction of urinary oxalate excretion under the treatment with PLP in dosages of 5mg/kg/day up to 20 mg/kg/day and serum level response relationship...
    Disease: Version SOC Term Classification Code Term Level
    12.1 10037671 Pyridoxine deficiency LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed)
    Trial results: View results
    EudraCT Number: 2005-003870-88 Sponsor Protocol Number: MUKO-D-GSH-4 Start Date*: 2006-10-20
    Sponsor Name:Mukoviszidose Institut gGmbH i. G.
    Full Title: Randomized, placebo-controlled, double-blind study to investigate the efficacy and safety of a 24-week inhalation treatment with glutathione in cystic fibrosis patients
    Medical condition: Cystic fibrosis (CF) is the most common autosomal recessive lethal hereditary disorder in Caucasians. The majority of cystic fibrosis patients die as a result of progressive pulmonary disease. Airw...
    Disease:
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed)
    Trial results: View results
    EudraCT Number: 2006-006745-13 Sponsor Protocol Number: ZLB06_001CR Start Date*: 2007-07-11
    Sponsor Name:CSL Behring AG
    Full Title: A Multicenter Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects with Primary Immunodeficiency
    Medical condition: PID (Primary Immunodeficiency)
    Disease: Version SOC Term Classification Code Term Level
    9.1 10064859 Primary immunodeficiency syndrome LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) GB (Completed) FR (Completed) ES (Completed) SE (Completed) IT (Completed) PL (Completed)
    Trial results: View results
    EudraCT Number: 2018-001496-20 Sponsor Protocol Number: SMR3438 Start Date*: 2019-05-14
    Sponsor Name:Katairo GmbH
    Full Title: A multi-national, multi-centre, double-masked, placebo-controlled proof of concept trial to evaluate the safety and efficacy of oral soraprazan in Stargardt disease
    Medical condition: Stargardt Disease
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10062766 Stargardt's disease PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) GB (GB - no longer in EU/EEA) NL (Completed) IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2005-001629-27 Sponsor Protocol Number: AGLU02403 Start Date*: 2005-08-03
    Sponsor Name:Genzyme Europe BV
    Full Title: A Long-term Continuation Study of Patients with Infantile-Onset Pompe Disease who were previously enrolled in Protocol AGLU01602
    Medical condition: Pompe disease is a rare metabolic muscle disease inherited in an autosomal recessive fashion. Pompe disease is caused by a deficiency of GAA, which is needed for the degradation of lysosomal glyco...
    Disease:
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2011-001513-13 Sponsor Protocol Number: LAL-CL04 Start Date*: 2011-10-24
    Sponsor Name:Synageva Biopharma Corp.
    Full Title: AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WH...
    Medical condition: Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare di...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10027433 - Metabolism and nutrition disorders 10027433 Metabolism and nutrition disorders SOC
    14.1 10027433 - Metabolism and nutrition disorders 10021605 Inborn errors of metabolism HLGT
    14.1 10010331 - Congenital, familial and genetic disorders 10024579 Lysosomal storage disorders HLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: GB (Completed) CZ (Completed)
    Trial results: View results
    EudraCT Number: 2019-003529-36 Sponsor Protocol Number: mRNA-3927-P101 Start Date*: 2020-12-18
    Sponsor Name:ModernaTX, Inc
    Full Title: A Global, Phase 1/2, Open-label, Dose Optimization Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia
    Medical condition: Propionic Acidemia- Propionic acidemia is an autosomal recessive disorder caused by loss-of-function mutations in PCCA or PCCB (and in rare instances, mutations in both PCCA and PCCB), resulting in...
    Disease: Version SOC Term Classification Code Term Level
    21.0 100000004850 10080615 Propionic acidemia LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2013-002015-98 Sponsor Protocol Number: CMMo/MD/2013 Start Date*: 2013-10-21
    Sponsor Name:Fundación Progreso y Salud
    Full Title: Clinical trial phase III multicenter, double-blind, randomized, placebo-controlled trial evaluating the efficacy of intracoronary infusion of autologous adult stem mononuclear bone marrow unexpande...
    Medical condition: dilated cardiomyopathy
    Disease: Version SOC Term Classification Code Term Level
    14.1 10007541 - Cardiac disorders 10007636 Cardiomyopathy PT
    14.1 10007541 - Cardiac disorders 10056419 Dilated cardiomyopathy LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: ES (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2013-001633-41 Sponsor Protocol Number: SONIA2 Start Date*: 2013-09-17
    Sponsor Name:University of Liverpool (UniLiv)
    Full Title: An international, multicenter, randomized, evaluator-blinded, no-treatment controlled, parallel-group study to assess the efficacy and safety of once daily nitisinone in patients with alkaptonuria ...
    Medical condition: Alkaptonuria (AKU) - a serious, autosomal recessive, multisystem disorder.
    Disease: Version SOC Term Classification Code Term Level
    16.0 10010331 - Congenital, familial and genetic disorders 10001689 Alkaptonuria PT
    Population Age: Adults Gender: Male, Female
    Trial protocol: GB (Completed) SK (Completed)
    Trial results: (No results available)
    EudraCT Number: 2018-001063-23 Sponsor Protocol Number: 012357 Start Date*: 2018-06-14
    Sponsor Name:Queen Mary Innovation Centre, Queen Mary University of London
    Full Title: PHASE II STUDY ASSESSING THE COMBINED USE OF AUTOLOGOUS BONE MARROW DERIVED MONONUCLEAR CELLS AND G-CSF WITH PERCUTANEOUS CIRCULATORY ASSISTANCE IN THE TREATMENT OF DILATED CARDIOMYOPATHY
    Medical condition: Heart failure is caused by a cardiomyopathy, which is defined as a disorder of the heart muscle. Dilated cardiomyopathy (DCM) is characterised by enlargement of the ventricles and impaired systolic...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004849 10056419 Dilated cardiomyopathy LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2015-002397-21 Sponsor Protocol Number: 2015-602295-03 Start Date*: 2015-11-30
    Sponsor Name:Ethicare GmbH
    Full Title: FOLLOW-UP SAFETY TRIAL IN CHILDREN WITH CHRONIC HEART FAILURE THERAPY RECEIVING ORODISPERSIBLE MINITABLETS OF ENALAPRIL
    Medical condition: Heart Failure due to Dilated Cardiomyopathy and Congenital Heart Disease
    Disease: Version SOC Term Classification Code Term Level
    18.1 100000004850 10010495 Congenital heart disease NOS LLT
    18.1 100000004849 10056419 Dilated cardiomyopathy LLT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: HU (Completed) GB (GB - no longer in EU/EEA) NL (Ongoing) AT (Completed) DE (Prematurely Ended)
    Trial results: (No results available)
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