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    EudraCT Number:2017-000645-48
    Sponsor's Protocol Code Number:AGU-001
    National Competent Authority:Finland - Fimea
    Clinical Trial Type:EEA CTA
    Trial Status:Ongoing
    Date on which this record was first entered in the EudraCT database:2017-05-31
    Trial results
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    A. Protocol Information
    A.1Member State ConcernedFinland - Fimea
    A.2EudraCT number2017-000645-48
    A.3Full title of the trial
    Open-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria
    Cystadane aspartyyliglukosaminurian hoidossa: tehoa ja turvallisuutta koskeva tutkimus
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    Cystadane in the treatment of AGU
    Cystadane AGU-taudin hoidossa
    A.3.2Name or abbreviated title of the trial where available
    Cystadane in the treatment of AGU
    Cystadane AGU-taudin hoidossa
    A.4.1Sponsor's protocol code numberAGU-001
    A.7Trial is part of a Paediatric Investigation Plan No
    A.8EMA Decision number of Paediatric Investigation Plan
    B. Sponsor Information
    B.Sponsor: 1
    B.1.1Name of SponsorMinna Laine
    B.3.1 and B.3.2Status of the sponsorNon-Commercial
    B.4 Source(s) of Monetary or Material Support for the clinical trial:
    B.4.1Name of organisation providing supportOrphan Europe SARL
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationUniversity of Giessen
    B.5.2Functional name of contact pointProf. Dr. Ritva Tikkanen
    B.5.3 Address:
    B.5.3.1Street AddressFriedrichstrasse 24
    B.5.3.2Town/ cityGiessen
    B.5.3.3Post code35392
    B.5.4Telephone number496419947420
    B.Sponsor: 2
    B.1.1Name of SponsorProf. Ritva Tikkanen
    B.3.1 and B.3.2Status of the sponsorNon-Commercial
    B.4 Source(s) of Monetary or Material Support for the clinical trial:
    B.4.1Name of organisation providing supportOrphan Europe SARL
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationProf. Dr. Ritva Tikkanen
    B.5.2Functional name of contact pointScientific Coordinator
    B.5.3 Address:
    B.5.3.1Street AddressFriedrichstrasse 24
    B.5.3.2Town/ cityGiessen
    B.5.3.3Post codeD-35392
    B.5.4Telephone number496419947420
    D. IMP Identification
    D.IMP: 1
    D.1.2 and D.1.3IMP RoleTest
    D.2 Status of the IMP to be used in the clinical trial
    D.2.1IMP to be used in the trial has a marketing authorisation Yes
    D. name Cystadane anhydrous
    D. of the Marketing Authorisation holderOrphan Europe SARL
    D.2.1.2Country which granted the Marketing AuthorisationEuropean Union
    D.2.5The IMP has been designated in this indication as an orphan drug in the Community Yes
    D.2.5.1Orphan drug designation numberEU/3/01/045
    D.3 Description of the IMP
    D.3.4Pharmaceutical form Oral powder
    D.3.4.1Specific paediatric formulation No
    D.3.7Routes of administration for this IMPOral use
    D.3.11 The IMP contains an:
    D.3.11.1Active substance of chemical origin No
    D.3.11.2Active substance of biological/ biotechnological origin (other than Advanced Therapy IMP (ATIMP) Yes
    The IMP is a:
    D.3.11.3Advanced Therapy IMP (ATIMP) No
    D. cell therapy medicinal product No
    D. therapy medical product No
    D. Engineered Product No
    D. ATIMP (i.e. one involving a medical device) No
    D. on Advanced therapies (CAT) has issued a classification for this product No
    D.3.11.4Combination product that includes a device, but does not involve an Advanced Therapy No
    D.3.11.5Radiopharmaceutical medicinal product No
    D.3.11.6Immunological medicinal product (such as vaccine, allergen, immune serum) No
    D.3.11.7Plasma derived medicinal product No
    D.3.11.8Extractive medicinal product No
    D.3.11.9Recombinant medicinal product No
    D.3.11.10Medicinal product containing genetically modified organisms No
    D.3.11.11Herbal medicinal product No
    D.3.11.12Homeopathic medicinal product No
    D.3.11.13Another type of medicinal product No
    D.8 Information on Placebo
    E. General Information on the Trial
    E.1 Medical condition or disease under investigation
    E.1.1Medical condition(s) being investigated
    E.1.1.1Medical condition in easily understood language
    Aspartylglucosaminuria (AGU) is a progressive disease that results in severe mental retardation of the patients. The main symptom of the disease is the progressive loss of mental capabilities.
    Aspartyyliglukosaminuria (AGU) on vaikeaa kehitysvammaisuutta aiheuttava, etenevä lastenneurologinen tauti. Taudin pääoire on henkisen kehityksen taantuminen.
    E.1.1.2Therapeutic area Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    MedDRA Classification
    E.1.3Condition being studied is a rare disease Yes
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    Safety and efficacy of Cystadane in the treatment of AGU
    Cystadanen teho ja turvallisuus AGU-taudin hoidossa
    E.2.2Secondary objectives of the trial
    Urine glycoasparagines
    AGA enzyme activity in white blood cells
    Cognitive function and psychological tests
    Quality of life survey
    Adaptive skills
    MRI findings of the brain
    Methionin level
    Absence of adverse events
    Glykoasparagiinien eritys virtsaan
    AGA-entsyymin aktiivisuus valkosoluissa
    Henkinen kehitys ja psykologiset testit
    Arjen toimintakyky
    Aivojen magneettilödökset
    Vakavien haittavaikutusten puuttuminen
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    Patients below the age of 15 years who have aspartylglucosaminuria
    Preferably homozygous for the Finnish major AGU mutation, AGU-Fin-major
    Written informed consent of the parents
    No known hypersensitivity or allergy against betain
    Compliance of the patient
    Alle 15-vuotiaat potilaat, jotka sairastavat aspartyyliglukosaminuriaa
    Erityisesti potilaat, jotka ovat homotsygootteja suomalaisen valtamutaation, AGU-Fin-major, suhteen
    Kirjallinen suostumus vanhemmilta
    Ei tunnettua yliherkkyyttä betaiinille
    Potilaan hyväksi arvioitu yhteistyökyky
    E.4Principal exclusion criteria
    Age above 15 years
    Patients who do not carry at least one allele of the Finnish major mutation
    Known adverse reactions against Betain or components of Cystadane
    Known history of cerebral oedema
    Participating in other interventional clinical studies
    Patients who have undergone bone marrow tranplantation
    Co-medication which would interfere with administration of Betain
    Yli 15-vuotiaat AGU-potilaat
    AGU-potilaat, joilla ei kummassakaan alleelissa ole suomalaista valtamutaatiota
    Tunnettu yliherkkyys betaiinille tai Cystadanen ainesosille
    Aikaisempi havainto aivopaineen noususta
    Potilaan osallistuminen muihin interventionaalisiin kliinisiin lääketutkimuksiin
    Potilaat, joille on tehty luuydinsiirto
    Muu lääkitys, joka saattaisi häiritä betaiinin antamista
    E.5 End points
    E.5.1Primary end point(s)
    Primary endpoint is the urinary excretion of glycoasaparagines
    Ensisijainen päätemuuttuja on glykoasparagiinien määrä virtsassa.
    E.5.1.1Timepoint(s) of evaluation of this end point
    0 months (starting point)
    3 months
    6 months
    12 months
    15 months
    24 months
    36 months
    48 months
    0 kk (alkuarvo)
    3 kk
    6 kk
    12 kk
    15 kk
    24 kk
    36 kk
    48 kk
    E.5.2Secondary end point(s)
    AGA enzyme activity in white blood cells
    Psychological tests
    Visit at child neurologists
    Quality of life survey
    Adaptive skills
    MRI findings of the brain
    Methionin Level in serum
    Absence of adverse events
    AGA-entsyymin aktiivisuus valkosoluissa
    Psykologiset testit
    Lastenneurologin tutkimus
    Arjen toimintakyky
    Aivojen magneettikuvaus
    Metioniinipitoisuus seerumissa
    Vakavien haittavaikutusten puuttuminen
    E.5.2.1Timepoint(s) of evaluation of this end point
    AGA enzyme activity in white blood cells: 0, 3, 6, 12, 15, 24, 36, 48 months
    Psychological tests: 0, 24, 48 months
    Child neurologist: 0,3 , 12, 15, 24, 36, 48 months
    Quality of life survey: 0, 12, 24, 36, 48 months
    Adaptive skills: 0, 12, 24, 36, 48 months
    MRI findings of the brain: 0, 12, 24, 36, 48 months
    Methionin level: 0, 3, 6, 12, 24 months
    Absence of adverse events: continuously
    AGA-entsyymin aktiivisuus valkosoluissa: 0, 3, 6, 12, 15, 24, 36, 48 kk
    Psykologiset testit: 0, 24, 48 kk
    Lastenneurologin tutkimus: 0, 3, 12, 15, 24, 36, 48
    Elämänlaatukysely: 0, 12, 24, 36, 48 kk
    Arjen toimintakyky: 0, 12, 24, 36, 48 kk
    Aivojen magneettikuvaus: 0, 12, 24, 36, 48 kk
    Metioniinipitoisuus: 0, 3, 6, 12, 24 kk
    Vakavien haittavaikutusten puuttuminen: jatkuvasti
    E.6 and E.7 Scope of the trial
    E.6Scope of the trial
    E.6.1Diagnosis No
    E.6.2Prophylaxis No
    E.6.3Therapy Yes
    E.6.4Safety Yes
    E.6.5Efficacy Yes
    E.6.6Pharmacokinetic No
    E.6.7Pharmacodynamic No
    E.6.8Bioequivalence No
    E.6.9Dose response No
    E.6.10Pharmacogenetic No
    E.6.11Pharmacogenomic No
    E.6.12Pharmacoeconomic No
    E.6.13Others No
    E.7Trial type and phase
    E.7.1Human pharmacology (Phase I) No
    E.7.1.1First administration to humans No
    E.7.1.2Bioequivalence study No
    E.7.1.3Other No
    E. trial type description
    E.7.2Therapeutic exploratory (Phase II) Yes
    E.7.3Therapeutic confirmatory (Phase III) No
    E.7.4Therapeutic use (Phase IV) No
    E.8 Design of the trial
    E.8.1Controlled Yes
    E.8.1.1Randomised No
    E.8.1.2Open Yes
    E.8.1.3Single blind No
    E.8.1.4Double blind No
    E.8.1.5Parallel group No
    E.8.1.6Cross over No
    E.8.1.7Other No
    E.8.2 Comparator of controlled trial
    E.8.2.1Other medicinal product(s) No
    E.8.2.2Placebo No
    E.8.2.3Other Yes
    E. description
    3 kk tauko lääkkeen käytössä 12 kk jälkeen
    Treatment break of 3 months after 12 months of use
    E.8.2.4Number of treatment arms in the trial1
    E.8.3 The trial involves single site in the Member State concerned Yes
    E.8.4 The trial involves multiple sites in the Member State concerned No
    E.8.5The trial involves multiple Member States No
    E.8.6 Trial involving sites outside the EEA
    E.8.6.1Trial being conducted both within and outside the EEA No
    E.8.6.2Trial being conducted completely outside of the EEA No
    E.8.7Trial has a data monitoring committee No
    E.8.8 Definition of the end of the trial and justification where it is not the last visit of the last subject undergoing the trial
    After 48 months of starting the test medication
    48 kk päästä lääkkeen käytön aloittamisesta
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years4
    E.8.9.1In the Member State concerned months
    E.8.9.1In the Member State concerned days
    F. Population of Trial Subjects
    F.1 Age Range
    F.1.1Trial has subjects under 18 Yes
    F.1.1Number of subjects for this age range: 15
    F.1.1.1In Utero No
    F.1.1.2Preterm newborn infants (up to gestational age < 37 weeks) No
    F.1.1.3Newborns (0-27 days) No
    F.1.1.4Infants and toddlers (28 days-23 months) No
    F.1.1.5Children (2-11years) Yes
    F. of subjects for this age range: 12
    F.1.1.6Adolescents (12-17 years) Yes
    F. of subjects for this age range: 3
    F.1.2Adults (18-64 years) No
    F.1.3Elderly (>=65 years) No
    F.2 Gender
    F.2.1Female Yes
    F.2.2Male Yes
    F.3 Group of trial subjects
    F.3.1Healthy volunteers No
    F.3.2Patients Yes
    F.3.3Specific vulnerable populations Yes
    F.3.3.1Women of childbearing potential not using contraception No
    F.3.3.2Women of child-bearing potential using contraception No
    F.3.3.3Pregnant women No
    F.3.3.4Nursing women No
    F.3.3.5Emergency situation No
    F.3.3.6Subjects incapable of giving consent personally Yes
    F. of subjects incapable of giving consent
    Children, handicapped with a mental retardation
    Lapsipotilaat, joilla on kehitysvamma
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state15
    F.5 Plans for treatment or care after the subject has ended the participation in the trial (if it is different from the expected normal treatment of that condition)
    Standard treatment of the disease. In case a follow-up study is planned, possible inclusion.
    AGU-taudin tavanomainen hoito. Jos tutkimukselle on suunnitteille jatkovaihe, mahdollisesti siihenkin osallistuminen.
    G. Investigator Networks to be involved in the Trial
    G.4 Investigator Network to be involved in the Trial: 1
    G.4.1Name of Organisation University of Giessen
    G.4.3.4Network Country Germany
    G.4 Investigator Network to be involved in the Trial: 2
    G.4.1Name of Organisation Prof. Taina Autti
    G.4.3.4Network Country Finland
    G.4 Investigator Network to be involved in the Trial: 3
    G.4.1Name of Organisation Prof. Päivi Helenius
    G.4.3.4Network Country Finland
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2017-06-29
    N.Ethics Committee Opinion of the trial applicationFavourable
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion2017-09-21
    P. End of Trial
    P.End of Trial StatusOngoing
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