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    Summary
    EudraCT Number:2017-001550-34
    Sponsor's Protocol Code Number:TIGEM2-PDH
    National Competent Authority:Italy - Italian Medicines Agency
    Clinical Trial Type:EEA CTA
    Trial Status:Prematurely Ended
    Date on which this record was first entered in the EudraCT database:2018-10-15
    Trial results
    Index
    A. PROTOCOL INFORMATION
    B. SPONSOR INFORMATION
    C. APPLICANT IDENTIFICATION
    D. IMP IDENTIFICATION
    D.8 INFORMATION ON PLACEBO
    E. GENERAL INFORMATION ON THE TRIAL
    F. POPULATION OF TRIAL SUBJECTS
    G. INVESTIGATOR NETWORKS TO BE INVOLVED IN THE TRIAL
    N. REVIEW BY THE COMPETENT AUTHORITY OR ETHICS COMMITTEE IN THE COUNTRY CONCERNED
    P. END OF TRIAL
    Expand All   Collapse All
    A. Protocol Information
    A.1Member State ConcernedItaly - Italian Medicines Agency
    A.2EudraCT number2017-001550-34
    A.3Full title of the trial
    Studio clinico pilota per valutare
    l’efficacia della terapia con fenilbutirrato in pazienti affetti da deficit di
    piruvato deidrogenasi
    Studio clinico pilota per valutare
    l’efficacia della terapia con fenilbutirrato in pazienti affetti da deficit di
    piruvato deidrogenasi
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    Studio clinico per valutare l'efficacia della terapia con il farmaco
    fenilbutirrato in soggetti affetti da un difetto metabolico associato ad acidosi lattica
    Studio clinico per valutare l'efficacia della terapia con il farmaco
    fenilbutirrato in soggetti affetti da un difetto metabolico associato ad acidosi lattica
    A.3.2Name or abbreviated title of the trial where available
    TIGEM2-PDH
    TIGEM2-PDH
    A.4.1Sponsor's protocol code numberTIGEM2-PDH
    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 SponsorFONDAZIONE TELETHON
    B.1.3.4CountryItaly
    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 supportFONDAZIONE TELETHON
    B.4.2CountryItaly
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationFONDAZIONE TELETHON
    B.5.2Functional name of contact pointSVILUPPO CLINICO
    B.5.3 Address:
    B.5.3.1Street AddressVIA POERIO 14
    B.5.3.2Town/ cityMILANO
    B.5.3.3Post code20129
    B.5.3.4CountryItaly
    B.5.4Telephone number+393386337541
    B.5.5Fax number+3908119230650
    B.5.6E-mailSZancan@Telethon.it
    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.2.1.1.1Trade name PHEBURANE - 483 MG/G GRANULATO - USO ORALE - FLACONE DI POLIETILENE AD ALTA DENSITÀ (HDPE) 174G - 1 FLACONE + 1 CUCCHIAIO DOSATORE
    D.2.1.1.2Name of the Marketing Authorisation holderLUCANE PHARMA
    D.2.1.2Country which granted the Marketing AuthorisationItaly
    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/5/15/1581
    D.3 Description of the IMP
    D.3.1Product namePheburane
    D.3.2Product code A16AX03
    D.3.4Pharmaceutical form Granules
    D.3.4.1Specific paediatric formulation No
    D.3.7Routes of administration for this IMPOral use
    D.3.8 to D.3.10 IMP Identification Details (Active Substances)
    D.3.8INN - Proposed INNSODIO FENILBUTIRRATO
    D.3.9.1CAS number 1716-12-7
    D.3.9.2Current sponsor codeNaPB
    D.3.9.3Other descriptive nameSODIUM PHENYLBUTYRATE
    D.3.9.4EV Substance CodeSUB12586MIG
    D.3.10 Strength
    D.3.10.1Concentration unit mg/g milligram(s)/gram
    D.3.10.2Concentration typeequal
    D.3.10.3Concentration number483
    D.3.11 The IMP contains an:
    D.3.11.1Active substance of chemical origin Yes
    D.3.11.2Active substance of biological/ biotechnological origin (other than Advanced Therapy IMP (ATIMP) No
    The IMP is a:
    D.3.11.3Advanced Therapy IMP (ATIMP) No
    D.3.11.3.1Somatic cell therapy medicinal product No
    D.3.11.3.2Gene therapy medical product No
    D.3.11.3.3Tissue Engineered Product No
    D.3.11.3.4Combination ATIMP (i.e. one involving a medical device) No
    D.3.11.3.5Committee 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
    La Sperimentazione verrà eseguita
    su pazienti affetti da difetto dell’enzima piruvato deidrogenasi.I pazienti affetti da
    questa malattia manifestano aumento dei livelli di lattato nel sangue e nelle urine e
    sintomi di gravità variabile,dalla forma più grave con acidosi lattica e possibile morte
    nel periodo neonatale,alla forma più lieve che si manifesta con perdita della
    coordinazione muscolare in seguito ad assunzione di cibi ricchi di carboidrati.Quasi tutti
    i pazienti con deficit di pir
    La Sperimentazione verrà eseguita
    su pazienti affetti da difetto dell’enzima piruvato deidrogenasi.I pazienti affetti da
    questa malattia manifestano aumento dei livelli di lattato nel sangue e nelle urine e
    sintomi di gravità variabile,dalla forma più grave con acidosi lattica e possibile morte
    nel periodo neonatale,alla forma più lieve che si manifesta con perdita della
    coordinazione muscolare in seguito ad assunzione di cibi ricchi di carboidrati.Quasi tutti
    i pazienti con deficit di pir
    E.1.1.1Medical condition in easily understood language
    Il difetto di
    piruvato deidrogenasi è una malattia del metabolismo caratterizzata da deficit del
    metabolismo energetico e aumento dei livelli di acido lattico nel sangue, nelle urine e
    nel sistema
    Il difetto di
    piruvato deidrogenasi è una malattia del metabolismo caratterizzata da deficit del
    metabolismo energetico e aumento dei livelli di acido lattico nel sangue, nelle urine e
    nel sistema
    E.1.1.2Therapeutic area Diseases [C] - Nutritional and Metabolic Diseases [C18]
    MedDRA Classification
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.0
    E.1.2Level PT
    E.1.2Classification code 10058097
    E.1.2Term Metabolic disorder
    E.1.2System Organ Class 10027433 - Metabolism and nutrition disorders
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.1
    E.1.2Level LLT
    E.1.2Classification code 10000491
    E.1.2Term Acidosis lactic
    E.1.2System Organ Class 10027433 - Metabolism and nutrition disorders
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.0
    E.1.2Level LLT
    E.1.2Classification code 10037677
    E.1.2Term Pyruvate
    E.1.2System Organ Class 10022891 - Investigations
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.0
    E.1.2Level LLT
    E.1.2Classification code 10023660
    E.1.2Term Lactate increased
    E.1.2System Organ Class 10022891 - Investigations
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 20.0
    E.1.2Level PT
    E.1.2Classification code 10057975
    E.1.2Term Lactate pyruvate ratio
    E.1.2System Organ Class 10022891 - Investigations
    E.1.3Condition being studied is a rare disease No
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    L’obiettivo principale dello studio è valutare l’efficacia del
    sodio fenilbutirrato in pazienti con deficit di piruvato deidrogenasi.
    L’obiettivo principale dello studio è valutare l’efficacia del
    sodio fenilbutirrato in pazienti con deficit di piruvato deidrogenasi.
    E.2.2Secondary objectives of the trial
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    Deficit dell’enzima
    piruvato deidrogenasi dovuto a mutazioni missenso del gene PDHA1; concentrazione di
    lattato ≥ 2,5 mmol / L o ≥ 2 mmol / L rispettivamente nei campioni di sangue venoso o
    arterioso; Età da 3 mesi a 18 anni. Volontà di aderire al protocollo e al follow-up
    necessario a lungo termine
    Deficit dell’enzima
    piruvato deidrogenasi dovuto a mutazioni missenso del gene PDHA1; concentrazione di
    lattato ≥ 2,5 mmol / L o ≥ 2 mmol / L rispettivamente nei campioni di sangue venoso o
    arterioso; Età da 3 mesi a 18 anni. Volontà di aderire al protocollo e al follow-up
    necessario a lungo termine
    E.4Principal exclusion criteria
    Mutazioni frameshift e
    nonsense a carico del gene PDHA1; mutazioni che interessano qualsiasi gene che
    codifichi subunità del complesso enzimatico della piruvato deidrogenasi diverso da
    PDHA1; acidosi lattica associata ad altre malattie o secondaria ad altre condizioni.
    Mutazioni frameshift e
    nonsense a carico del gene PDHA1; mutazioni che interessano qualsiasi gene che
    codifichi subunità del complesso enzimatico della piruvato deidrogenasi diverso da
    PDHA1; acidosi lattica associata ad altre malattie o secondaria ad altre condizioni.
    E.5 End points
    E.5.1Primary end point(s)
    Riduzione del lattato nel sangue
    misurato dopo il trattamento con sodio fenilbutirrato, confrontato con i valori pretrattamento.
    Riduzione del lattato nel sangue
    misurato dopo il trattamento con sodio fenilbutirrato, confrontato con i valori pretrattamento.
    E.5.1.1Timepoint(s) of evaluation of this end point
    Gli end point di efficacia saranno
    valutati 2 e 4 settimane dopo l’inizio del trattamento
    Gli end point di efficacia saranno
    valutati 2 e 4 settimane dopo l’inizio del trattamento
    E.5.2Secondary end point(s)
    Riduzione di altri parametri
    metabolici dopo il trattamento con sodio fenulbutirrato: riduzione dei livelli di piruvato
    nel sangue, alanina nel sangue e lattato nelle urine. Valutazione della sicurezza del
    farmaco nei pazienti con difetto di piruvato deidrogenasi.
    Riduzione di altri parametri
    metabolici dopo il trattamento con sodio fenulbutirrato: riduzione dei livelli di piruvato
    nel sangue, alanina nel sangue e lattato nelle urine. Valutazione della sicurezza del
    farmaco nei pazienti con difetto di piruvato deidrogenasi.
    E.5.2.1Timepoint(s) of evaluation of this end point
    Gli end point secondari saranno
    valutati 2 e 4 settimane dopo l’inizio del trattamento
    Gli end point secondari saranno
    valutati 2 e 4 settimane dopo l’inizio del trattamento
    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.7.1.3.1Other 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 No
    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 No
    E.8.3 The trial involves single site in the Member State concerned No
    E.8.4 The trial involves multiple sites in the Member State concerned Yes
    E.8.4.1Number of sites anticipated in Member State concerned2
    E.8.5The trial involves multiple Member States No
    E.8.5.1Number of sites anticipated in the EEA2
    E.8.6 Trial involving sites outside the EEA
    E.8.6.1Trial being conducted both within and outside the EEA Yes
    E.8.6.2Trial being conducted completely outside of the EEA No
    E.8.6.3If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned
    Holy See (Vatican City State)
    Italy
    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
    LVLS
    LVLS
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years1
    E.8.9.1In the Member State concerned months0
    E.8.9.1In the Member State concerned days0
    E.8.9.2In all countries concerned by the trial years1
    E.8.9.2In all countries concerned by the trial months0
    E.8.9.2In all countries concerned by the trial days0
    F. Population of Trial Subjects
    F.1 Age Range
    F.1.1Trial has subjects under 18 Yes
    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) Yes
    F.1.1.4.1Number of subjects for this age range: 6
    F.1.1.5Children (2-11years) Yes
    F.1.1.5.1Number of subjects for this age range: 6
    F.1.1.6Adolescents (12-17 years) Yes
    F.1.1.6.1Number of subjects for this age range: 2
    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 No
    F.3.3.1Women of childbearing potential not using contraception No
    F.3.3.2Women of child-bearing potential using contraception Yes
    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.3.3.6.1Details of subjects incapable of giving consent
    MINORI
    MINORI
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state9
    F.4.2 For a multinational trial
    F.4.2.1In the EEA 9
    F.4.2.2In the whole clinical trial 14
    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)
    E' previsto un follow up telefonico dopo due settimane dal termine del trattamento.
    E' previsto un follow up telefonico dopo due settimane dal termine del trattamento.
    G. Investigator Networks to be involved in the Trial
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2018-09-17
    N.Ethics Committee Opinion of the trial application
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion
    P. End of Trial
    P.End of Trial StatusPrematurely Ended
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