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Clinical trials for Enzyme deficiency

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 ).  
     
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    164 result(s) found for: Enzyme deficiency. Displaying page 1 of 9.
    1  2  3  4  5  6  7  8  9  Next»
    EudraCT Number: 2017-004153-17 Sponsor Protocol Number: 20171012 Start Date*: 2018-05-03
    Sponsor Name:Copenhagen Neuromuscular Center
    Full Title: Evaluation of the effect of Triheptanoin on fatty acid oxidation and exercise tolerance in patients with debrancher deficiency, glycogenin-1 deficiency and phosphofructokinase deficiency at rest an...
    Medical condition: Cori Forbe's Disease Also called: glycogen storage disease Type III or debrancher deficiency. Tarui's disease Also called: glycogen storage disease Type VII or phosphofructokinase deficiency. ...
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10053241 Glycogen storage disease type VII PT
    20.1 10010331 - Congenital, familial and genetic disorders 10053250 Glycogen storage disease type III PT
    20.0 10010331 - Congenital, familial and genetic disorders 10053255 Tarui disease LLT
    20.0 10010331 - Congenital, familial and genetic disorders 10016983 Forbes' disease LLT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DK (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2012-002662-12 Sponsor Protocol Number: PSY102 Start Date*: 2012-12-12
    Sponsor Name:Psyadon Pharmaceuticals Inc.
    Full Title: An Outpatient Phase 3 Efficacy Study of Ecopipam (PSYRX 101) in the Symptomatic Treatment of Self-Injurious Behavior in Subjects with Lesch-Nyhan Disease (LND).
    Medical condition: Self-injurious behavior in subjects with Lesch-Nyhan Disease (LND).
    Disease: Version SOC Term Classification Code Term Level
    15.0 10010331 - Congenital, familial and genetic disorders 10024245 Lesch-Nyhan syndrome LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: ES (Ongoing) NL (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2021-000903-19 Sponsor Protocol Number: UX053-CL101 Start Date*: 2022-08-24
    Sponsor Name:Ultragenyx Pharmaceutical Inc.
    Full Title: A Phase 1/2 First-in-human, 2-part Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses (Part 1: Open-label) and Repeat Doses (Part 2: Randomized, Double-blind...
    Medical condition: Glycogen Storage Disease Type III (GSD III)
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10053250 Glycogen storage disease type III PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Completed) IT (Prematurely Ended) ES (Ongoing)
    Trial results: View results
    EudraCT Number: 2010-024647-32 Sponsor Protocol Number: MIGLU-3 Start Date*: 2011-03-18
    Sponsor Name:UNIVERSITA` DEGLI STUDI DI NAPOLI FEDERICO II
    Full Title: Combined enzyme enhancement therapy (EET) and enzyme replacement therapy (ERT) in patients with Pompe disease
    Medical condition: Patients with Pompe Disease (Type II Glycogenosis) on therapy with Enzyme Replacement Therapy (ERT) for at least 6 months
    Disease: Version SOC Term Classification Code Term Level
    13.1 10010331 - Congenital, familial and genetic disorders 10036143 Pompe's disease LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: IT (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2006-000136-27 Sponsor Protocol Number: CCD02 Start Date*: 2008-03-17
    Sponsor Name:Cytonet GmbH & Co KG
    Full Title: Open, Prospective, Uncontrolled, Multicentre Study to Evaluate The Safety and Efficacy of Multiple Applications of Liver Cell Suspension Into The Portal Vein in Children with Urea Cycle Disorders (...
    Medical condition: Neonates and Infants up to 3 months including with prenatally or postnatally confirmed urea cycle disorder with below listed deficiency and children aged > 3 months up to 5 years including with con...
    Disease: Version SOC Term Classification Code Term Level
    18.1 10010331 - Congenital, familial and genetic disorders 10052450 Ornithine transcarbamoylase deficiency PT
    18.1 10010331 - Congenital, familial and genetic disorders 10058298 Argininosuccinate synthetase deficiency PT
    18.1 10010331 - Congenital, familial and genetic disorders 10058297 Carbamoyl phosphate synthetase deficiency PT
    Population Age: Newborns, Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed)
    Trial results: View results
    EudraCT Number: 2016-000942-77 Sponsor Protocol Number: EFC14028 Start Date*: 2016-07-15
    Sponsor Name:Genzyme Corporation
    Full Title: A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of Avalglucosidase Alfa (neoGAA, GZ402666) and Alglucosidase ...
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10036143 Pompe's disease LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DK (Prematurely Ended) SE (Prematurely Ended) NL (Completed) ES (Completed) CZ (Completed) DE (Completed) BE (Completed) AT (Completed) PL (Completed) IT (Completed) PT (Completed) BG (Completed) HU (Completed) Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2013-003321-28 Sponsor Protocol Number: LTS13769 Start Date*: 2014-05-12
    Sponsor Name:Genzyme Corporation
    Full Title: An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of Avalglucosidase Alfa (NeoGAA, GZ402666) In Patients With Pom...
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10036143 Pompe's disease LLT
    20.1 10010331 - Congenital, familial and genetic disorders 10053185 Glycogen storage disease type II PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Completed) NL (Completed) DK (Completed) DE (Completed) FR (Ongoing)
    Trial results: View results
    EudraCT Number: 2008-001503-26 Sponsor Protocol Number: FER-CARS-03 Start Date*: 2008-10-17
    Sponsor Name:Vifor Pharma - Vifor (International) AG
    Full Title: EFfect of Ferric Carboxymaltose on exercIse CApacity and Cardiac function in patients with iron deficiencY and chronic Heart Failure (EFFICACY-HF)
    Medical condition: Ambulatory patients with stable symptomatic chronic CHF (congestive heart failure) and iron deficiency.
    Disease: Version SOC Term Classification Code Term Level
    9.1 10008908 Chronic heart failure LLT
    9.1 10002062 Anaemia iron deficiency LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DK (Prematurely Ended) DE (Completed) NL (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2011-002154-32 Sponsor Protocol Number: AT2220-010 Start Date*: 2011-12-07
    Sponsor Name:Amicus Therapeutics, Inc.
    Full Title: AN OPEN-LABEL MULTI-CENTER, INTERNATIONAL STUDY TO INVESTIGATE DRUG-DRUG INTERACTIONS BETWEEN AT2220 AND ALGLUCOSIDASE ALFA IN PATIENTS WITH POMPE DISEASE
    Medical condition: Pompe Disease
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10036143 Pompe's disease LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2015-000512-18 Sponsor Protocol Number: AGLU09411/EFC12720 Start Date*: 2015-03-02
    Sponsor Name:Genzyme Corporation Inc
    Full Title: A Phase 4 Open Label, Prospective Study in Patients With Pompe Disease to Evaluate The Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    17.1 100000004850 10036143 Pompe's disease LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2019-002251-42 Sponsor Protocol Number: GZ-2016-11512. Start Date*: Information not available in EudraCT
    Sponsor Name:
    Full Title: An open-label, single-center study on the safety and efficacy of avalglucosidase alpha in late-onset Pompe patients ≥5 years
    Medical condition: Late onset Pompe disease
    Disease: Version SOC Term Classification Code Term Level
    24.0 100000004850 10036143 Pompe's disease LLT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2021-002185-40 Sponsor Protocol Number: LSH-21-001 Start Date*: 2022-10-06
    Sponsor Name:Landspitali - The National University Hospital of Iceland
    Full Title: Comparison of the Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion and Plasma Levels in Patients with Adenine Phosphoribosyltransferase Deficiency: A Clinical Trial
    Medical condition: Adenine phosphoribosyltransferase deficiency
    Disease:
    Population Age: Adults Gender: Male, Female
    Trial protocol: IS (Completed)
    Trial results: (No results available)
    EudraCT Number: 2008-002302-18 Sponsor Protocol Number: POM-CL-201 Start Date*: 2009-02-16
    Sponsor Name:Amicus Therapeutics, Inc.
    Full Title: An open-label, multicenter, study to evaluate the safety, tolerability, pharmacodynamics, and pharmacokinetics of three dosing regimens of oral AT2220 in patients with Pompe disease
    Medical condition: Pompe Disease
    Disease: Version SOC Term Classification Code Term Level
    9.1 10036143 Pompe's disease LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) GB (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2010-022231-11 Sponsor Protocol Number: AGLU07710 Start Date*: 2012-12-13
    Sponsor Name:Genzyme Corporation
    Full Title: A Phase 3/4 Prospective Study to Characterize the Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8 Years of Age and Older
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    18.1 100000004850 10036143 Pompe's disease LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (Completed) GB (GB - no longer in EU/EEA)
    Trial results: View results
    EudraCT Number: 2015-000583-34 Sponsor Protocol Number: AGLU03707_MSC12817 Start Date*: 2015-04-15
    Sponsor Name:Genzyme Corporation Inc
    Full Title: An Exploratory Study of the Safety and Efficacy of Immune Tolerance Induction (ITI) in Patients with Pompe Disease Who Have Previously Received Myozyme
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    17.1 100000004850 10036143 Pompe's disease LLT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
    EudraCT Number: 2011-005595-42 Sponsor Protocol Number: AGLU07510 Start Date*: 2013-04-17
    Sponsor Name:Genzyme Corporation, a Sanofi company
    Full Title: A Phase 3/4, Prospective, Multinational, Open-label, Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients with Infantile-Onset Pompe Di...
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    17.1 100000004850 10036143 Pompe's disease LLT
    Population Age: Preterm newborn infants, Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed)
    Trial results: View results
    EudraCT Number: 2007-000498-42 Sponsor Protocol Number: PB-06-001 Start Date*: 2008-05-08
    Sponsor Name:Protalix Biotherapeutics
    Full Title: A Phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patient...
    Medical condition: Gaucher disease
    Disease: Version SOC Term Classification Code Term Level
    9.1 10018048 Gaucher's disease PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed) ES (Completed) IT (Completed) Outside EU/EEA
    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: 2010-020611-36 Sponsor Protocol Number: AGLU07310 Start Date*: 2011-10-12
    Sponsor Name:Genzyme Europe B.V.
    Full Title: A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
    Medical condition: Pompe disease (acid alpha-glucosidase deficiency)
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10036143 Pompe's disease LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (Completed) DE (Completed) NL (Completed)
    Trial results: View results
    EudraCT Number: 2021-004047-25 Sponsor Protocol Number: ALGMYL08718 Start Date*: 2021-07-27
    Sponsor Name:Sanofi(China) Investment Co Ltd, Shanghai Branch
    Full Title: A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients with Infantile-Onset Pompe Disease with One Year Alglucosidase Alfa Treatment
    Medical condition: Infantile-Onset Pompe Disease
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10053185 Glycogen storage disease type II PT
    Population Age: Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: Outside EU/EEA
    Trial results: View results
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