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Clinical trials for Inborn errors of metabolism

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   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).

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    20 result(s) found for: Inborn errors of metabolism. Displaying page 1 of 1.
    EudraCT Number: 2009-017026-39 Sponsor Protocol Number: UCBT-002 Start Date*: 2009-12-28
    Sponsor Name:Aldagen, Inc
    Full Title: A PHASE III TRIAL OF ALD-101 ADUVANT THERAPY of UNRELATED UMBILICAL CORD BLOOD TRANSPLANTATION (UCBT) IN PATIENTS WITH INBORN ERRORS OF METABOLISM
    Medical condition: Inborn errors of metabolism
    Disease: Version SOC Term Classification Code Term Level
    9.1 10062018 Inborn error of metabolism LLT
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: NL (Ongoing)
    Trial results: (No results available)
    EudraCT Number: 2009-011921-15 Sponsor Protocol Number: UCBT-002 Start Date*: 2009-06-22
    Sponsor Name:Aldagen, Inc
    Full Title: A PHASE III TRIAL OF ALD-101 ADUVANT THERAPY of UNRELATED UMBILICAL CORD BLOOD TRANSPLANTATION (UCBT) IN PATIENTS WITH INBORN ERRORS OF METABOLISM
    Medical condition: Inborn errors of metabolism
    Disease: Version SOC Term Classification Code Term Level
    9.1 10062018 Inborn error of metabolism LLT
    Population Age: Newborns, Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: NL (Not Authorised)
    Trial results: (No results available)
    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: 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: 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: 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: 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: 2011-000032-28 Sponsor Protocol Number: LAL-CL03 Start Date*: 2011-04-18
    Sponsor Name:Synageva Biopharma Corp.
    Full Title: An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal ...
    Medical condition: Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease).
    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: Preterm newborn infants, Newborns, Infants and toddlers, Under 18 Gender: Male, Female
    Trial protocol: GB (Completed) FR (Completed) DE (Prematurely Ended) IT (Completed) IE (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: 2017-003989-27 Sponsor Protocol Number: PROLONGSTEM Start Date*: Information not available in EudraCT
    Sponsor Name:Promethera Therapeutics
    Full Title: PROLONGSTEM: HepaStem Long-Term Safety Registry Registry for patients who have been administered HepaStem
    Medical condition: This study will include all patients having received at least one infusion of the Investigational Medicinal Product (IMP) HepaStem HALPC during a previous interventional clinical study conducted by...
    Disease: Version SOC Term Classification Code Term Level
    20.1 100000004850 10021601 Inborn error of metabolism NOS LLT
    20.0 100000004871 10008954 Chronic liver disease and cirrhosis LLT
    20.1 100000004871 10049844 Acute liver failure LLT
    21.1 200000003094 10013373 Disorders of urea cycle metabolism LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Trial now transitioned) FR (Trial now transitioned) ES (Ongoing) GB (GB - no longer in EU/EEA) BG (Trial now transitioned) PL (Trial now transitioned)
    Trial results: (No results available)
    EudraCT Number: 2010-024068-16 Sponsor Protocol Number: LAL-CL01 Start Date*: 2011-03-08
    Sponsor Name:Synageva Biopharma Corp.
    Full Title: An open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency.
    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
    14.0 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: Adults Gender: Male, Female
    Trial protocol: GB (Completed) CZ (Completed)
    Trial results: View results
    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: 2011-004528-36 Sponsor Protocol Number: CAC-002-01 Start Date*: 2011-10-06
    Sponsor Name:Asklepion Pharmaceuticals, LLC
    Full Title: An open-label, single center, non-randomized, continuation study of cholic acid capsules in subjects with inborn errors of bile acid synthesis.
    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: 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: 2008-005594-35 Sponsor Protocol Number: TJB0603 Start Date*: 2009-10-28
    Sponsor Name:CHU Sart-Tilman
    Full Title: Randomized double-blind study of mesenchymal stem cells (MSC) in patients undergoing matched unrelated allogeneic bone marrow or peripheral blood stem cell transplantation- A European multicentre s...
    Medical condition: Hematological disorders of the following types: ALL: acute lymphoblastic leukemia in complete remission (<5% blasts in marrow) up to and including third remission (excluding relapse). AML: acute my...
    Disease: Version SOC Term Classification Code Term Level
    9.1 10027703 Mismatched donor bone marrow transplantation therapy LLT
    Population Age: Children, Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: BE (Prematurely Ended)
    Trial results: View results
    EudraCT Number: 2008-000071-25 Sponsor Protocol Number: JE049-3101 Start Date*: 2009-09-10
    Sponsor Name:Jerini AG
    Full Title: Open-Label, Multicenter Study to Evaluate Safety, Local Tolerability, Convenience, and Efficacy of a Self-Administered Subcutaneous Formulation of Icatibant for the Treatment of Acute Attacks of He...
    Medical condition: hereditary angioedema, HAE (in adult patients with C1-esterase-inhibitor deficiency)
    Disease: Version SOC Term Classification Code Term Level
    12.0 10019860 Hereditary angioedema LLT
    Population Age: Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Completed) AT (Completed) GB (Completed) FR (Completed) ES (Completed) IT (Completed) DK (Completed)
    Trial results: View results
    EudraCT Number: 2013-005508-33 Sponsor Protocol Number: MC-FludT.16/NM Start Date*: 2014-09-29
    Sponsor Name:medac Gesellschaft für klinische Spezialpräparate mbH
    Full Title: Clinical phase II trial to compare Treosulfan-based conditioning therapy with Busulfan-based conditioning prior to allogeneic haematopoietic stem cell transplantation (HSCT) in paediatric patients ...
    Medical condition: Male and female children with non-malignant diseases requiring myeloablative conditioning treatment with following allogeneic haematopoietic stem cell transplantation (allo-HSCT) – i.e. primary imm...
    Disease: Version SOC Term Classification Code Term Level
    20.0 100000004850 10021606 Inborn errors of metabolism NEC HLT
    20.0 100000004870 10036700 Primary immunodeficiency syndromes HLT
    20.0 100000004850 10018903 Haemoglobinopathies congenital HLT
    Population Age: Infants and toddlers, Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: DE (Completed) AT (Completed) CZ (Completed) PL (Completed) IT (Completed)
    Trial results: View results
    EudraCT Number: 2014-000650-11 Sponsor Protocol Number: HEP002 Start Date*: 2014-09-15
    Sponsor Name:Promethera Biosciences
    Full Title: A prospective, open label, multicountry, efficacy and safety study of several infusions of HepaStem in Urea Cycle Disorders pediatric patients.
    Medical condition: The urea cycle disorders are inborn errors of metabolism that affect the transfer of nitrogen into urea. There are seven disorders to be investigated: carbamoylphosphate synthetase I deficiency [CP...
    Disease: Version SOC Term Classification Code Term Level
    18.0 100000004861 10013373 Disorders of urea cycle metabolism LLT
    Population Age: Newborns, Infants and toddlers, Children, Under 18 Gender: Male, Female
    Trial protocol: BE (Completed) ES (Completed) FR (Completed) PL (Completed)
    Trial results: View results
    EudraCT Number: 2020-001496-32 Sponsor Protocol Number: KB070 Start Date*: 2020-10-01
    Sponsor Name:KEDRION S.P.A
    Full Title: A Phase III, Open-label, Prospective, Multicenter Study to Assess Efficacy, Safety, and Pharmacokinetics of Kedrion Intravenous Human Normal Immunoglobulin (IVIg) 10% in Pediatric Patients Affected...
    Medical condition: Pediatric Patients Affected by Primary Immunodeficiency Disease.
    Disease: Version SOC Term Classification Code Term Level
    20.0 10010331 - Congenital, familial and genetic disorders 10064859 Primary immunodeficiency syndrome PT
    Population Age: Children, Adolescents, Under 18 Gender: Male, Female
    Trial protocol: SK (Completed) HU (Completed) PT (Completed) IT (Completed)
    Trial results: (No results available)
    EudraCT Number: 2019-001462-15 Sponsor Protocol Number: MC-MSC.1/aGvHD Start Date*: 2020-09-24
    Sponsor Name:medac Gesellschaft für klinische Spezialpräparate mbH
    Full Title: A Randomised, Open label, Multicentre, Phase 3 Trial of First line Treatment with Mesenchymal Stromal Cells MC0518 Versus Best Available Therapy in Adult and Adolescent Subjects with Steroid refrac...
    Medical condition: Steroid refractory Acute Graft versus host Disease
    Disease: Version SOC Term Classification Code Term Level
    27.0 10021428 - Immune system disorders 10066260 Acute graft versus host disease PT
    Population Age: Adolescents, Under 18, Adults, Elderly Gender: Male, Female
    Trial protocol: DE (Trial now transitioned) PL (Trial now transitioned) FR (Trial now transitioned) SE (Ongoing)
    Trial results: (No results available)
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