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Clinical trials for Metabolic and nutritional disorders congenital

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   44412   clinical trials with a EudraCT protocol, of which   7421   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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    83 result(s) found for: Metabolic and nutritional disorders congenital. Displaying page 1 of 5.
    1  2  3  4  5  Next»
    EudraCT Number: 2022-000241-32 Sponsor Protocol Number: NL80290.018.22 Start Date*: 2022-08-08
    Sponsor Name:Amsterdam UMC
    Full Title: Effectiveness of L-serine dietary supplementation in children with a GRIN2B loss-of-function mutation: n-of-1 series
    Medical condition: GRIN2B deficiency
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Completed)
    Trial results: (No results available)
    EudraCT Number: 2021-002550-82 Sponsor Protocol Number: NL76160.018.21 Start Date*: 2022-12-22
    Sponsor Name:Amsterdam UMC
    Full Title: Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series
    Medical condition: Gaucher disease type 3
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Children, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2021-003250-23 Sponsor Protocol Number: 78162.018.21 Start Date*: 2025-01-24
    Sponsor Name:Amsterdam UMC
    Full Title: Cannabidiol (Epidyolex) for behavioural problems in patients with Tuberous Sclerosis Complex, Sanfilippo and Fragile X Syndrome: an N-of-1 series
    Medical condition: Tuberous Sclerosis Complex (TSC), Sanfilippo syndrome, Fragile X syndrome (FXS)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10010331 Congenital, familial and genetic disorders SOC
    20.0 10010331 - Congenital, familial and genetic disorders 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2011-002539-24 Sponsor Protocol Number: MICA Start Date*: 2012-05-03
    Sponsor Name:Hospital of the University of Munich
    Full Title: Effect of Mipomersen on LDL-Cholesterol Levels in Patients with Severe LDL-Hypercholesterolemia and Atherosclerosis Treated by Regular LDL-Apheresis
    Medical condition: In this trial, the effect of mipomersen is tested on LDL-cholesterol levels in patients with severe LDL-hypercholesterolemia and atherosclerosis which are regularly treated by LDL-apheresis.
    Disease: Version SOC Term Classification Code Term Level
    17.0 10010331 - Congenital, familial and genetic disorders 10027424 Metabolic and nutritional disorders congenital HLGT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Prematurely Ended)
    Trial results: View results
    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: 2012-003029-11 Sponsor Protocol Number: 2012-489 Start Date*: 2012-09-10
    Sponsor Name:Steen Stender
    Full Title: Ethyl ester Versus Triglyceride formulations of long chained omega-3 fatty acids in moderate hypertriglyceridemia - a randomized placebo-controlled clinical trial (EVT)
    Medical condition: Hypertriglyceridemia
    Disease: Version SOC Term Classification Code Term Level
    15.0 10027433 - Metabolism and nutrition disorders 10071235 Combined hyperlipidemia LLT
    15.0 10010331 - Congenital, familial and genetic disorders 10060754 Type IV hyperlipidemia LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DK (Completed)
    Trial results: (No results available)
    EudraCT Number: 2011-002466-20 Sponsor Protocol Number: 4087 Start Date*: 2012-08-16
    Sponsor Name:Royal Liverpool And Broadgreen University Hospitals NHS Trust
    Full Title: An exploratory, randomised, 3-way crossover study to determine the effect of paracetamol on urinary cystine excretion in cystinuria
    Medical condition: Cystinuria
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10011778 Cystinuria PT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA)
    Trial results: (No results available)
    EudraCT Number: 2021-000508-39 Sponsor Protocol Number: HM-GCG-201 Start Date*: 2021-10-22
    Sponsor Name:Hanmi Pharm. Co., Ltd.
    Full Title: A Phase 2, Multiple Ascending Dose, Open-label, Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of HM15136 Treatment for 8 Weeks in Subjects Aged ≥2 Year...
    Medical condition: Congenital Hyperinsulinism (CHI)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10027433 - Metabolism and nutrition disorders 10061211 Hyperinsulinism PT
    23.0 100000004850 10083499 Congenital hyperinsulinemic hypoglycemia LLT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (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: 2016-001644-19 Sponsor Protocol Number: NUIG-2016-01 Start Date*: 2016-11-10
    Sponsor Name:National University of ireland Galway
    Full Title: A Randomised Placebo Controlled Trial of the effectiveness of Early MEtformin in Addition to Usual Care in the Reduction of Gestational Diabetes Mellitus Effects (EMERGE)
    Medical condition: Gestational Diabetes Mellitus
    Disease: Version SOC Term Classification Code Term Level
    21.1 100000004868 10018210 Gestational diabetes mellitus LLT
    Population Age: Adults Gender: Female
    Trial protocol: IE (Completed)
    Trial results: View results
    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: 2016-001275-80 Sponsor Protocol Number: X358605 Start Date*: 2016-08-25
    Sponsor Name:XOMA (US) LLC
    Full Title: An Open-Label Study of XOMA 358, with Optional Dose Escalation, in Patients with Congenital Hyperinsulinism
    Medical condition: Hypoglycemia associated with congenital hyperinsulinism
    Disease: Version SOC Term Classification Code Term Level
    19.0 10027433 - Metabolism and nutrition disorders 10077227 Hyperinsulinemic hypoglycemia LLT
    19.0 10027433 - Metabolism and nutrition disorders 10020644 Hyperinsulinism NOS LLT
    19.0 10027433 - Metabolism and nutrition disorders 10061211 Hyperinsulinism PT
    19.0 10027433 - Metabolism and nutrition disorders 10022484 Insulin hypoglycaemia LLT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: DE (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: 2013-002701-56 Sponsor Protocol Number: ALXN1101-MCD-201 Start Date*: 2014-04-16
    Sponsor Name:Origin Biosciences, Inc.
    Full Title: A Phase 2, multicenter, multinational, open-label, dose-escalation study to evaluate the safety and efficacy of ORGN001 (formerly ALXN1101) in pediatric patients with Molybdenum Cofactor Deficiency...
    Medical condition: Molybdenum Cofactor Deficiency (MoCD) Type A
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10069687 Molybdenum cofactor deficiency PT
    Population Age: Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) NL (Completed)
    Trial results: View results
    EudraCT Number: 2013-001045-14 Sponsor Protocol Number: SAF001 Start Date*: 2013-04-22
    Sponsor Name:Promethera Biosciences
    Full Title: SAF 001: A long-term safety follow-up study of patients suffering from Urea Cycle disorders (UCD) or Crigler-Najjar Syndrome (CN) having received infusions of HepaStem.
    Medical condition: Crigler-Najjar syndrome is associated with a complete or partial hepatic deficit of bilirubin glucuronosyltransferase activity and is apparent during the neonatal period by intense jaundice. The ur...
    Disease: Version SOC Term Classification Code Term Level
    15.1 100000004850 10021601 Inborn error of metabolism NOS LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: BE (Completed) PT (Completed) IT (Completed) GB (Completed)
    Trial results: View results
    EudraCT Number: 2011-004074-28 Sponsor Protocol Number: UKHEP001 Start Date*: 2012-07-20
    Sponsor Name:Promethera Biosciences
    Full Title: A prospective, open label, multicenter, randomized, safety and preliminary efficacy study of one cycle of Promethera HepaStem® in Urea Cycle Disorders and Crigler-Najjar Syndrome patients
    Medical condition: Crigler-Najjar syndrome is associated with a complete or partial hepatic deficit of bilirubin glucuronosyltransferase activity and is apparent during the neonatal period by intense jaundice. The ur...
    Disease: Version SOC Term Classification Code Term Level
    17.0 100000004850 10021601 Inborn error of metabolism NOS LLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: GB (Completed) BE (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2012-005021-76 Sponsor Protocol Number: OPBGC&RS_12_003 Start Date*: 2013-01-31
    Sponsor Name:EDISON PHARMACEUTICALS INC.
    Full Title: A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children with Rett Syndrome
    Medical condition: Rett Syndrome
    Disease: Version SOC Term Classification Code Term Level
    14.1 10027433 - Metabolism and nutrition disorders 10021605 Inborn errors of metabolism HLGT
    Population Age: Children, Adolescents, Under 18 Gender: Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2021-005058-27 Sponsor Protocol Number: 165-306 Start Date*: Information not available in EudraCT
    Sponsor Name:BioMarin Pharmaceutical Inc.
    Full Title: A Phase 3 Multi-Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) with Phenylketonuria Featuring an Open-Label Randomized...
    Medical condition: Phenylketonuria (PKU)
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10034873 Phenylketonuria (PKU) LLT
    Population Age: Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2018-001094-25 Sponsor Protocol Number: PHEMI Start Date*: 2019-09-12
    Sponsor Name:FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA
    Full Title: Phenylbutyrate Therapy in Mitochondrial Disease with lactic acidosis: an opel label clinical trial in MELAS and PHD deficiency patients
    Medical condition: Melas Syndrome and PDH deficency enchephalopathy
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10053872 MELAS syndrome PT
    20.0 10010331 - Congenital, familial and genetic disorders 10053872 MELAS syndrome PT
    20.0 10010331 - Congenital, familial and genetic disorders 10062950 Leigh syndrome LLT
    Population Age: Children, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2014-001670-34 Sponsor Protocol Number: AZP01-CLI-002 Start Date*: 2015-01-26
    Sponsor Name:Alize Pharma
    Full Title: A Phase IIa, randomized, double-blind, placebo-controlled, multi-center study to evaluate the safety, tolerability, and effects of AZP-531, an Unacylated Ghrelin analog, on food-related behavior in...
    Medical condition: Prader-Willi Syndrome
    Disease: Version SOC Term Classification Code Term Level
    17.1 10027433 - Metabolism and nutrition disorders 10003018 Appetite and general nutritional disorders HLGT
    17.1 10010331 - Congenital, familial and genetic disorders 10036476 Prader-Willi syndrome PT
    17.1 10027433 - Metabolism and nutrition disorders 10003022 Appetite disorders HLT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: ES (Completed) FR (Completed) IT (Completed)
    Trial results: (No results available)
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