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Clinical trials for Metabolic Diseases AND Congenital Abnormalities

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   44344   clinical trials with a EudraCT protocol, of which   7373   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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    43 result(s) found for: Metabolic Diseases AND Congenital Abnormalities. Displaying page 1 of 3.
    1  2  3  Next»
    EudraCT Number: 2013-002395-40 Sponsor Protocol Number: AGO/2013/007 Start Date*: 2014-03-24
    Sponsor Name:Ghent University Hospital
    Full Title: Prospective intervention trial with adjuvant metformin in girls and boys with classic CAH (METFOR CAH).
    Medical condition: congenital adrenal hyperplasia (CAH)
    Disease: Version SOC Term Classification Code Term Level
    16.1 100000004850 10010323 Congenital adrenal hyperplasia LLT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: BE (Completed)
    Trial results: View results
    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: 2013-000975-33 Sponsor Protocol Number: RDCRN_RKSC_6412 Start Date*: 2013-11-19
    Sponsor Name:Landspitali - The National University Hospital of Iceland
    Full Title: Novel Assays for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites - Rare Diseases Clinical Research Network Protocol Version 1
    Medical condition: Adenine phosphoribosyltransferase deficiency
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: IS (Completed)
    Trial results: View results
    EudraCT Number: 2019-001759-38 Sponsor Protocol Number: K675 Start Date*: 2019-12-04
    Sponsor Name:Ruprecht-Karls University Heidelberg Medical Faculty, University Hospital represented in law by its commercial director
    Full Title: Pharmacokinetics of a microdosed cocktail containing rivaroxaban, apixaban and edoxaban in children with congenital heart defects
    Medical condition: 20 children with non-cyanotic congenital heart defects especially atrial septal defects (ASD) and ventricular septal defects (VSD) in admitted to the paediatric cardiology wards will be included. T...
    Disease:
    Population Age: Children, Under 18 Gender: Male, Female
    Trial protocol: DE (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2012-002120-33 Sponsor Protocol Number: HLSCS01-11 Start Date*: 2013-12-06
    Sponsor Name:AZIENDA SANITARIA OSPEDALIERA O.I.R.M. - S. ANNA
    Full Title: Human Liver Stem Cells (HLSCs) in patients suffering from liver-based inborn metabolic diseases causing life-threatening neonatal onset of hyperammonemic encephalopathy
    Medical condition: neonatal hyperammonemic encephalopathy associated with inborn liver metabolic diseases
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10059521 Methylmalonic aciduria PT
    14.1 10010331 - Congenital, familial and genetic disorders 10058299 Argininosuccinate lyase deficiency PT
    14.1 10010331 - Congenital, familial and genetic disorders 10052450 Ornithine transcarbamoylase deficiency PT
    14.1 10010331 - Congenital, familial and genetic disorders 10058297 Carbamoyl phosphate synthetase deficiency PT
    Population Age: Newborns, Under 18 Gender: Male, Female
    Trial protocol: IT (Completed)
    Trial results: View results
    EudraCT Number: 2016-004823-21 Sponsor Protocol Number: PBI-4050-CT-9-10 Start Date*: 2017-10-25
    Sponsor Name:Prometic Biosciences Inc.
    Full Title: An Open-Label Rollover Study of PBI-4050 in Subjects with Alström Syndrome
    Medical condition: Alström Syndrome
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10068814 Alstrom syndrome LLT
    Population Age: Adults Gender: Male, Female
    Trial protocol: GB (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2017-002155-28 Sponsor Protocol Number: P160902J Start Date*: 2018-08-30
    Sponsor Name:ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)
    Full Title: Evaluation of allopurinol treatment for autistic disorders and epilepsy in adenylosuccinate lyase deficiency (ADSL)
    Medical condition: patient with adenulosuccinate lyase deficiency
    Disease: Version SOC Term Classification Code Term Level
    20.1 10010331 - Congenital, familial and genetic disorders 10062018 Inborn error of metabolism PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: FR (Completed)
    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: 2010-021790-37 Sponsor Protocol Number: UK_S-H_08_0006 Start Date*: Information not available in EudraCT
    Sponsor Name:Universitätsklinikum Schleswig-Holstein, Campus Lübeck
    Full Title: Comparison of clinical and metabolic effects of testosterone and estradiol in adult gonadectomized patients with 46,XY DSD due to complete androgen insensitivity syndrome (CAIS)
    Medical condition: The medical condition under investigation is complete androgen insensitivity syndrome (CAIS) in gonadectomized patients with 46,XY karyotype due to mutations of the androgen receptor, which lead to...
    Disease: Version SOC Term Classification Code Term Level
    14.1 10010331 - Congenital, familial and genetic disorders 10056292 Androgen insensitivity syndrome PT
    Population Age: Adults Gender: Female
    Trial protocol: DE (Completed)
    Trial results: (No results available)
    EudraCT Number: 2019-004645-32 Sponsor Protocol Number: FLT190-02 Start Date*: 2020-03-24
    Sponsor Name:Freeline Therapeutics Ltd
    Full Title: A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease
    Medical condition: Fabry disease
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10016016 Fabry's disease PT
    Population Age: Adults, Elderly Gender: Male
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Prematurely Ended) AT (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2018-004418-16 Sponsor Protocol Number: B24CS Start Date*: Information not available in EudraCT
    Sponsor Name:Advicenne SA
    Full Title: A Phase 3b Open-Label Extension of Study B23CS (ARENA 2) Evaluating the Continued Safety and Efficacy of ADV7103 in Subjects With Primary Distal Renal Tubular Acidosis (ARENA 2 Open-label Extensio...
    Medical condition: Distal renal tubular acidosis
    Disease: Version SOC Term Classification Code Term Level
    21.1 10038359 - Renal and urinary disorders 10038535 Renal tubular acidosis PT
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Prematurely Ended)
    Trial results: (No results available)
    EudraCT Number: 2011-004903-20 Sponsor Protocol Number: ABR-38376 Start Date*: 2012-05-09
    Sponsor Name:
    Full Title: Hydroxychloroquine as an anti-autophagy and chromatin modulating drug in combination with erlotinib in non-small cell lung cancer (NSCLC) patients: a single-center single arm open-label phase II trial
    Medical condition: Patients with histologically confirmed stage IV non-squamous non-small-cell lung cancer (NSCLC) • with an activating EGFR mutation who progressed on erlotinib or gefitinib monotherapy. OR • who...
    Disease:
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2015-001625-16 Sponsor Protocol Number: PBI-4050-ATX-9-05 Start Date*: 2015-10-29
    Sponsor Name:ProMetic BioSciences Inc.
    Full Title: A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Tolerability of PBI-4050 and of its Effects on the Inflammatory, Fibrosis,Diabetes and Obesity Biomarkers in Subjects with Alström...
    Medical condition: Alström Syndrome
    Disease: Version SOC Term Classification Code Term Level
    19.1 100000004850 10068814 Alstrom syndrome LLT
    Population Age: Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (Completed)
    Trial results: View results
    EudraCT Number: 2017-002067-18 Sponsor Protocol Number: B12CS-B13CS Start Date*: 2018-12-11
    Sponsor Name:Advicenne
    Full Title: A multicentre, randomised, controlled versus placebo, double-blinded, 4 parallel arms, dose-ranging main study, to evaluate the efficacy, safety and tolerability and acceptability of repeated doses...
    Medical condition: Cystinuria
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10011778 Cystinuria PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: FR (Prematurely Ended) BE (Completed)
    Trial results: View results
    EudraCT Number: 2011-002880-42 Sponsor Protocol Number: LAL-CL05 Start Date*: 2011-12-05
    Sponsor Name:Synageva Biopharma Corp.
    Full Title: An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102
    Medical condition: Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
    Disease: Version SOC Term Classification Code Term Level
    14.0 10027433 - Metabolism and nutrition disorders 10027433 Metabolism and nutrition disorders SOC
    14.0 10027433 - Metabolism and nutrition disorders 10021605 Inborn errors of metabolism HLGT
    14.0 10010331 - Congenital, familial and genetic disorders 10024579 Lysosomal storage disorders HLT
    Population Age: Preterm newborn infants, Newborns, Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: GB (Prematurely Ended) FR (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2013-003828-36 Sponsor Protocol Number: B22CS Start Date*: 2015-10-22
    Sponsor Name:Advicenne Pharma
    Full Title: A multicentre, open-label, extension study, evaluating the safety and tolerability and the efficacy of ADV7103 at long term in distal renal tubular acidosis patients.
    Medical condition: Distal renal tubular acidosis
    Disease: Version SOC Term Classification Code Term Level
    20.1 10038359 - Renal and urinary disorders 10038535 Renal tubular acidosis PT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: SK (Completed)
    Trial results: View results
    EudraCT Number: 2016-000322-19 Sponsor Protocol Number: UX007-CL202 Start Date*: 2016-06-06
    Sponsor Name:Ultragenyx Pharmaceutial Inc.
    Full Title: An Open-label Long-Term Safety and Efficacy Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies
    Medical condition: Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
    Disease:
    Population Age: Infants and toddlers, Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (GB - no longer in 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: 2016-004186-83 Sponsor Protocol Number: RZ358-606 Start Date*: 2017-04-11
    Sponsor Name:Rezolute, Inc.
    Full Title: An Open-Label Multiple-Dose Study of RZ358 in Patients with Congenital Hyperinsulinism
    Medical condition: Hypoglycemia associated with congenital hyperinsulinism
    Disease: Version SOC Term Classification Code Term Level
    20.1 10027433 - Metabolism and nutrition disorders 10077227 Hyperinsulinemic hypoglycemia LLT
    20.0 10027433 - Metabolism and nutrition disorders 10020644 Hyperinsulinism NOS LLT
    20.0 10027433 - Metabolism and nutrition disorders 10061211 Hyperinsulinism PT
    20.1 10027433 - Metabolism and nutrition disorders 10022484 Insulin hypoglycaemia LLT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (GB - no longer in EU/EEA) DE (Completed) DK (Completed) BG (Completed) ES (Ongoing)
    Trial results: View results
    EudraCT Number: 2015-003105-41 Sponsor Protocol Number: PTC124-GD-031-MPS Start Date*: 2015-10-13
    Sponsor Name:PTC Therapeutics Inc.
    Full Title: CNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS)
    Medical condition: Nonsense mutation Mucopolysaccharidosis Type I
    Disease: Version SOC Term Classification Code Term Level
    18.1 10010331 - Congenital, familial and genetic disorders 10056886 Mucopolysaccharidosis I PT
    Population Age: Children, Adolescents, Under 18, Adults Gender: Male, Female
    Trial protocol: GB (Prematurely Ended)
    Trial results: View results
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