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    Summary
    EudraCT Number:2017-000810-44
    Sponsor's Protocol Code Number:FSJD-PMM2-2016
    National Competent Authority:Spain - AEMPS
    Clinical Trial Type:EEA CTA
    Trial Status:Completed
    Date on which this record was first entered in the EudraCT database:2017-04-07
    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 ConcernedSpain - AEMPS
    A.2EudraCT number2017-000810-44
    A.3Full title of the trial
    Phase II clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with PMM2-CDG deficiency.
    Ensayo clínico fase II, para evaluar la efectividad y la seguridad de la acetazolamida en el tratamiento del síndrome cerebeloso en pacientes con deficiencia de PMM2-CDG.
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    Clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with phosphomannomutase deficiency.
    Ensayo clínico para evaluar la efectividad y la seguridad de la acetazolamida en el tratamiento del síndrome cerebeloso en pacientes con deficiencia de fosfomanomutasa.
    A.4.1Sponsor's protocol code numberFSJD-PMM2-2016
    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 SponsorFundació Sant Joan de Déu
    B.1.3.4CountrySpain
    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 supportFundació Sant Joan de Déu
    B.4.2CountrySpain
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationSAIL SL
    B.5.2Functional name of contact pointSilvia Martinez
    B.5.3 Address:
    B.5.3.1Street AddressAvenida Meridiana 350, 9D
    B.5.3.2Town/ cityBarcelona
    B.5.3.3Post code08027
    B.5.3.4CountrySpain
    B.5.4Telephone number0034935042736
    B.5.6E-mailsilvia.martinez@sail-biometria.com
    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 EDEMOX
    D.2.1.1.2Name of the Marketing Authorisation holderCHIESI ESPAÑA S.A.
    D.2.1.2Country which granted the Marketing AuthorisationSpain
    D.2.5The IMP has been designated in this indication as an orphan drug in the Community No
    D.2.5.1Orphan drug designation number
    D.3 Description of the IMP
    D.3.1Product nameacetazolamida
    D.3.4Pharmaceutical form Capsule
    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 INNacetazolamida
    D.3.9.1CAS number 59-66-5
    D.3.9.2Current sponsor codeacetazolamide
    D.3.9.3Other descriptive nameACETAZOLAMIDE
    D.3.9.4EV Substance CodeSUB05219MIG
    D.3.10 Strength
    D.3.10.1Concentration unit mg milligram(s)
    D.3.10.2Concentration typerange
    D.3.10.3Concentration number250 to 750
    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
    Cerebellar syndrome
    Síndrome cerebeloso
    E.1.1.1Medical condition in easily understood language
    Cerebellar syndrome (a disease that attacks the cerebellum)
    Síndrome cerebeloso (enfermedad que ataca al cerebelo)
    E.1.1.2Therapeutic area Diseases [C] - Nervous System Diseases [C10]
    MedDRA Classification
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 19.1
    E.1.2Level PT
    E.1.2Classification code 10008072
    E.1.2Term Cerebellar syndrome
    E.1.2System Organ Class 10029205 - Nervous system disorders
    E.1.3Condition being studied is a rare disease No
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    To determine effectiveness in terms of the movement disorder associated with cerebellar syndrome.
    Determinar efectividad en cuanto a la clínica de trastorno de movimiento asociado al síndrome cerebeloso.
    E.2.2Secondary objectives of the trial
    To describe the response regarding cognitive-behavioral phenotype associated with cerebellar syndrome.
    To evaluate the benefit in regard to external oculomotor disorder: strabismus, nystagmus, alteration of the sacral.
    To evaluate the improvement in functionality and quality of life.
    To evaluate clinical changes in multisystemic affection using NPCRS scale, global systemic scale for PMM2-CDG.
    Evaluation of safety in the multisystemic affection described in the PMM2-CDG deficiency: thyroid function, hepatic function, coagulation factors.
    Evaluation of the modification or correction of an abnormal sialotrasferrin glycosylation profile of patients with PMM2-CDG deficiency.
    Evaluation of therapeutic compliance.
    Describir la respuesta en cuanto a fenotipo cognitivo-conductual asociado al síndrome cerebeloso.
    Evaluar el beneficio en cuanto a trastorno oculomotor externo: estrabismo, nistagmo, alteración de la sacada.
    Evaluar la mejoría en funcionalidad y calidad de vida.
    Evaluar los cambios clínicos en la afectación multisistémica mediante escala NPCRS, escala sistémica global para PMM2-CDG.
    Evaluación de la seguridad en cuanto a la afectación multisistémica descrita en la deficiencia de PMM2-CDG: función tiroidea, función hepática, factores de coagulación.
    Evaluación de la modificación o corrección de perfil de glicosilación de sialotrasferrina anómalo que presentan los pacientes con deficiencia de PMM2-CDG.
    Evaluación del cumplimiento terapéutico.
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    Patients with a molecular study confirming PMM2-CDG deficiency
    Age greater than 5 years (60 months) and younger than 21 years at baseline
    Normal renal function: serum creatinine: <45μmol / L (<6 years); <60μmol / L (7-10 years); <110μmol / L (> 11 years).
    Hepatic function with transaminases less than 5 times the upper reference limit * for the laboratory, thus remaining in the last analysis (1 year): ALT in serum: 2-30 IU / L (5-12 years); 2-38 IU / L (> 12 years).
    Informed consent signed by parents or legal guardians.
    Assent by patients over 12 and under 18 years
    Informed consent signed by patients over 18 years of age.
    Absence of treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
    No known hypersensitivity to the active substance or to any of the excipients.
    Pacientes con estudio molecular que confirme la deficiencia de PMM2-CDG
    Edad mayor de 5 años (60 meses) y menor de 21 años al inicio del estudio
    Función renal normal: creatinina en suero: <45µmol/L (<6 años); <60µmol/L (7-10 años); <110µmol/L (>11 años).
    Función hepática con transaminasas menores a 5 veces el límite superior de referencia* para el laboratorio habiéndose mantenido así en las últimas analíticas (1 año): ALT en suero: 2-30 UI/L (5-12años); 2-38 UI/L (>12 años).
    Consentimiento informado firmado por parte de padres o tutores legales.
    Asentimiento por parte de los pacientes mayores de 12 y menores de 18 años
    Consentimiento informado firmado por parte los pacientes mayores de 18 años.
    Ausencia de tratamientos en los 30 días previos con fármacos que pueda modificar o artefactar el estudio y que no esté científicamente validada su eficacia en síndrome cerebeloso.
    Ausencia de hipersensibilidad conocida al principio activo o a alguno de los excipientes.
    E.4Principal exclusion criteria
    Over 18 years at the beginning of the study.
    Co-morbid conditions: Kidney disease that contraindicates the use of acetazolamide, cardiac disease not compensated with the treatment.
    Other chronic or active acute diseases that under the criterion of the researcher were an exclusion criterion.
    Concomitant medication that has not been scientifically proven to improve neurological symptoms associated with cerebellar dysfunction
    Age less than 5 years (60 months) or greater than 21 years at the start of the study
    Altered renal function: serum creatinine:> 57μmol / L (<6 years); > 60μmol / L (7-10 years); > 80μmol / L (> 11 years).
    Hepatic function with transaminases greater than 5 times the upper limit of reference: serum ALT: 63-83 IU / L (5-9 years); 63-82 IU / L (9-12 years): 2-36 IU / L (> 12 years).
    Absence of informed consent signed by parents or legal guardians. Absence of informed consent signed by the patient himself / herself in people over 18 years of age.
    Treatments in the previous 30 days with drugs that can modify or artifact the study and that its effectiveness in cerebellar syndrome is not validly validated.
    Known hypersensitivity to the active substance or to any of the excipients.
    Mayor de 18 años al inicio del estudio.
    Situaciones de comorbilidad: Enfermedad renal que contraindique el uso de acetazolamida, enfermedad cardiológica no compensada con el tratamiento.
    Otras enfermedades crónicas o agudas activas que bajo criterio del investigador fuera un criterio de exclusión.
    Medicación concomitante que no haya sido demostrada científicamente con la finalidad de mejorar la sintomatología neurológica asociada a la disfunción cerebelosa
    Edad menor de 5 años (60 meses) o mayor de 21 años al inicio del estudio
    Función renal alterada: creatinina en suero: >57µmol/L (<6 años); >60µmol/L (7-10 años); >80µmol/L (>11 años).
    Función hepática con transaminasas mayores a 5 veces el límite superior de referencia: ALT en suero: 63-83 UI/L (5-9años); 63-82 UI/L (9-12 años): 2-36 UI/L (>12 años).
    Ausencia de consentimiento informado firmado por parte de padres o tutores legales. Ausencia de consentimiento informado firmado por parte del propio paciente en los mayores de 18 años.
    Tratamientos en los 30 días previos con fármacos que pueda modificar o artefactar el estudio y que no esté científicamente validada su eficacia en síndrome cerebeloso.
    Hipersensibilidad conocida al principio activo o a alguno de los excipientes.
    E.5 End points
    E.5.1Primary end point(s)
    To determine effectiveness in terms of the movement disorder associated with cerebellar syndrome.
    Determinar efectividad en cuanto a la clínica de trastorno de movimiento asociado al síndrome cerebeloso.
    E.5.1.1Timepoint(s) of evaluation of this end point
    7 month
    7 meses
    E.5.2Secondary end point(s)
    To describe the response regarding cognitive-behavioral phenotype associated with cerebellar syndrome.
    To evaluate the benefit in regard to external oculomotor disorder: strabismus, nystagmus, alteration of the sacral.
    To evaluate the improvement in functionality and quality of life.
    To evaluate clinical changes in multisystemic affection using NPCRS scale, global systemic scale for PMM2-CDG.
    Evaluation of safety in the multisystemic affection described in the PMM2-CDG deficiency: thyroid function, hepatic function, coagulation factors.
    Evaluation of the modification or correction of an abnormal sialotrasferrin glycosylation profile of patients with PMM2-CDG deficiency.
    Evaluation of therapeutic compliance.
    Describir la respuesta en cuanto a fenotipo cognitivo-conductual asociado al síndrome cerebeloso.
    Evaluar el beneficio en cuanto a trastorno oculomotor externo: estrabismo, nistagmo, alteración de la sacada.
    Evaluar la mejoría en funcionalidad y calidad de vida.
    Evaluar los cambios clínicos en la afectación multisistémica mediante escala NPCRS, escala sistémica global para PMM2-CDG.
    Evaluación de la seguridad en cuanto a la afectación multisistémica descrita en la deficiencia de PMM2-CDG: función tiroidea, función hepática, factores de coagulación.
    Evaluación de la modificación o corrección de perfil de glicosilación de sialotrasferrina anómalo que presentan los pacientes con deficiencia de PMM2-CDG.
    Evaluación del cumplimiento terapéutico.
    E.5.2.1Timepoint(s) of evaluation of this end point
    7 months
    7 meses
    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 No
    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 Yes
    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 Yes
    E.8.1.7.1Other trial design description
    Ciego para los evaluadores en la retirada del fármaco.
    Blind for evaluators on drug withdrawal.
    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 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
    Patients in whom no positive response has been obtained will withdraw the medication and no further intervention will be performed.
    Los pacientes en los que no se haya obtenido una respuesta positiva se retirará la medicación y no se realizará otra intervención.
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years
    E.8.9.1In the Member State concerned months12
    E.8.9.1In the Member State concerned days
    E.8.9.2In all countries concerned by the trial months12
    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: 25
    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.1.1.5.1Number of subjects for this age range: 15
    F.1.1.6Adolescents (12-17 years) Yes
    F.1.1.6.1Number of subjects for this age range: 10
    F.1.2Adults (18-64 years) Yes
    F.1.2.1Number of subjects for this age range: 5
    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.3.3.6.1Details of subjects incapable of giving consent
    Children
    Niños
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state30
    F.4.2 For a multinational trial
    F.4.2.1In the EEA 0
    F.4.2.2In the whole clinical trial 30
    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)
    None
    Ninguno
    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 SAIL SL
    G.4.3.4Network Country Spain
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2017-05-31
    N.Ethics Committee Opinion of the trial applicationFavourable
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion2017-05-11
    P. End of Trial
    P.End of Trial StatusCompleted
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