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    EudraCT Number:2014-005194-37
    Sponsor's Protocol Code Number:CT-ORZY-NPC-001
    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:2015-05-08
    Trial results View results
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    A. Protocol Information
    A.1Member State ConcernedSpain - AEMPS
    A.2EudraCT number2014-005194-37
    A.3Full title of the trial
    A prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern
    Estudio no terapéutico prospectivo en pacientes con diagnóstico de la enfermedad de Niemann-Pick tipo C, con el fin de caracterizar el perfil individual de la enfermedad del paciente y el patrón histórico en la progresión de la signo-sintomatología
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern
    Estudio no terapéutico en pacientes con la enfermedad de Niemann-Pick tipo C, con el fin de caracterizar el perfil individual de la enfermedad del paciente y el patrón histórico en la progresión de la signo-sintomatología
    A.3.2Name or abbreviated title of the trial where available
    Characterisation of Niemann-Pick disease type C
    Caracterizacion de la enfermedad Niemann-Pick tipo C
    A.4.1Sponsor's protocol code numberCT-ORZY-NPC-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 SponsorOrphazyme ApS
    B.3.1 and B.3.2Status of the sponsorCommercial
    B.4 Source(s) of Monetary or Material Support for the clinical trial:
    B.4.1Name of organisation providing supportOrphazyme ApS
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationMireia del Toro Riera
    B.5.2Functional name of contact pointMedico de Pediatria Neurometabolica
    B.5.3 Address:
    B.5.3.1Street AddressPaseo Vall d'Hebron, 119-129
    B.5.3.2Town/ cityBarcelona
    B.5.3.3Post code08035
    B.5.4Telephone number003493 489 31 56
    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 MIglustat
    D. of the Marketing Authorisation holderMIglustat
    D.2.1.2Country which granted the Marketing AuthorisationUnited Kingdom
    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 nameZavesca
    D.3.2Product code A16AX06
    D.3.4Pharmaceutical form Buccal tablet
    D.3.4.1Specific paediatric formulation No
    D.3.7Routes of administration for this IMPBuccal use
    D.3.8 to D.3.10 IMP Identification Details (Active Substances)
    D.3.8INN - Proposed INNMIGLUSTAT
    D.3.9.1CAS number 72599-27-0
    D.3.9.4EV Substance CodeSUB20049
    D.3.10 Strength
    D.3.10.1Concentration unit mg milligram(s)
    D.3.10.2Concentration typeequal
    D.3.10.3Concentration number100
    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. 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
    Niemann-Pick disease - type C
    Enfermedad de Niemann-Pick tipo C
    E.1.1.1Medical condition in easily understood language
    Niemann-Pick Type C is a rare and inherited disease in which quantities of fatty substances accumulate in the brain and other organs. The brain, central nervous system, liver and spleen are affected
    NP tipo C es una enfermedad rara, hereditaria y en donde sustancias grasas se acumulan en el cerebro y otros órganos. El cerebro, el sistema nervioso central, el hígado y el bazo están afectados
    E.1.1.2Therapeutic area Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    MedDRA Classification
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 18.0
    E.1.2Level PT
    E.1.2Classification code 10029403
    E.1.2Term Niemann-Pick disease
    E.1.2System Organ Class 10010331 - Congenital, familial and genetic disorders
    E.1.3Condition being studied is a rare disease Yes
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    To characterize the individual patient disease progression profile (disease burden and progression) through the clinical, imaging, biological status, and quality of life prospectively recorded, together with the historic disease information collected from patient medical records.
    Caracterizar el perfil individual de progresión de la enfermedad de cada paciente (carga y progresión de la enfermedad) a través de la clínica, imágenes, estado biológico y calidad de vida, registrado de manera prospectiva, junto con la información histórica de la enfermedad recogida en las historias clínicas de los pacientes.
    E.2.2Secondary objectives of the trial
    To evaluate the safety data of the disease-related therapy and
    to record every adverse event (AE) linked to the disease.
    Evaluar los datos de seguridad relacionados con la terapia de
    la enfermedad y registrar cada efecto adverso relacionado con
    la enfermedad.
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    ? Written informed consent (and assent if appropriate to local laws and
    regulations) prior to any study-related procedures
    ? Willing to participate in all aspects of trial design including serial blood
    sampling, skin biopsies and imaging (ultrasonography and magnetic
    resonance imaging/magnetic resonance spectroscopy (MRI/MRS)
    ? Males and females aged from 2 years to 18 years and 11 months
    ? Patients of any ethnic background will be eligible for this study
    ? Diagnosis of Niemann-Pick disease type C (NP-C), NPC1/NPC2
    ? NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA]
    sequence analysis);
    ? Presenting at least one neurological symptom of the disease (for
    example, but not limited to, hearing loss, vertical supranuclear gaze
    palsy, ataxia, dementia, dystonia, seizures dysarthria, or dysphagia)
    ? Treated or non-treated with miglustat; if the patient is under
    prescribed treatment with miglustat, it has to be under stable dose of
    the medication for ? 3 continuous months prior to inclusion in this study
    ? Patient weight ? 15th percentile of body mass index (BMI) for age
    according to the World Health Organisation (WHO) standards
    ? Ability to walk either independently or with assistance.
    • Consentimiento informado por escrito (y asentimiento de acuerdo con las leyes y regulaciones locales) anterior a cualquier procedimiento relacionado con el estudio;
    • Estar dispuesto a participar en todos los aspectos del diseño del ensayo, incluido la obtención de muestras de sangre, biopsias de piel e imágenes (ecografía e imágenes por
    resonancia magnética/espectroscopia de resonancia magnética [IRM/ERM];
    • Hombres y mujeres de entre 2 a 18 años y 11 meses;
    • Los pacientes de cualquier origen étnico serán elegibles para este estudio;
    • Diagnóstico de la enfermedad de Niemann-Pick tipo C (NPC), NPC1/NPC2;
    • Diagnóstico de NP-C genéticamente confirmado (análisis secuencial del ácido desoxirribonucleico [ADN]);
    • Presentar al menos un síntoma neurológico de la enfermedad (por ejemplo, entre otros, pérdida de audición, parálisis supranuclear de la mirada vertical, ataxia, demencia, distonía,convulsiones, disartria o disfagia);
    • En tratamiento/o sin tratamiento con miglustat bajo prescripción médica; si el paciente está bajo tratamiento prescrito con miglustat, tiene que ser bajo una dosis estable
    del medicamento durante 3 meses continuos previos a la inclusión en este estudio;
    • El peso del paciente ha de ser mayor o igual al percentil quinceavo del índice de masa corporal (IMC) para la edad según las normas de la Organización Mundial de la Salud (OMS).
    • Capacidad para caminar independientemente o con asistencia.
    E.4Principal exclusion criteria
    ? No written informed consent obtained from the patient or their
    parent(s)/legal guardian(s) (and assent if appropriate to local laws and
    regulation) before any study related procedures
    ? Recipient of a liver transplant or planned liver transplantation
    ? Patients with uncontrolled severe epileptic seizures period (at least 3
    consecutive severe epileptic seizures that required medication) within 2
    months prior to the written consent. This includes patients with ongoing
    seizures that are not stable in frequency or type or duration over a 2
    month period prior to enrollment, requiring change in dose of
    antiepileptic medication (other than adjustment for weight) over a 2
    month period prior to enrollment, or requiring 3 or more antiepileptic
    medications to control seizures
    ? Neurologically asymptomatic patients
    ? Severe liver insufficiency (defined as hepatic laboratory parameters,
    aspartate transaminase [AST] and alanine transaminase [ALT] greater
    than three-times the upper limit of normal for age and gender
    ? Severe renal insufficiency, with serum creatinine level greater than 1.5
    times the upper limit of normal
    ? Severe manifestations of NP-C disease that would interfere with the
    patient's ability to comply with the requirements of this protocol
    ? In the opinion of the Investigator, the patient's clinical condition does
    not allow for the required blood collection and/or skin biopsies as per
    the protocol-specified procedures
    ? Treatment with any IMP within 4 weeks prior to the study enrolment,
    or during the study
    ? Current participation in another trial is not permitted unless it is a noninterventional
    study and the sole purpose of the trial is for long-term
    follow up/survival data (registry)
    ? Patients will be excluded if there is a confirmed risk linked to the MRI
    procedure [i.e.: implanted cardiac pacemaker or implantable
    cardioverter defibrillator, implanted neural pacemakers, cochlear
    implants, implanted metallic foreign bodies in the eye or CNS (such as a
    CNS aneurysmal clip), any form of implanted wire or metal device that
    may concentrate radio frequency fields and/or confirmed history of
    unexpected serious adverse reaction to sedation or anesthesia (if
    sedation is necessary)]
    ? Patients will be excluded if there is a confirmed risk linked to the skin
    punch biopsy procedure like severe thrombocytopaenia, at investigator's
    • Imposibilidad de obtener el consentimiento informado por escrito por parte del paciente o sus padres/tutor(es) legal(es) (y asentimiento, de acuerdo con las leyes y regulaciones
    locales) anterior a cualquier procedimiento relacionado con el estudio;
    • Receptor de un trasplante de hígado o trasplante de hígado planificado;
    • Pacientes con convulsiones epilépticas graves e incontroladas (al menos 3 episodios de convulsiones epilépticas graves consecutivas que requieran medicación) en los dos meses
    previos al consentimiento informado por escrito. Esto incluye a pacientes con convulsiones en curso que no son estables en frecuencia, tipo o duración durante un periodo superior a 2
    meses previos a la inclusión, que requieran un cambio de dosis en la medicación antiepiléptica (que no sea por ajuste de peso) durante un periodo superior a 2 meses previos a la inclusión, o que requieran 3 o más medicamentos antiepilépticos para controlar la convulsiones;
    • Pacientes neurológicamente asintomáticos;
    • Insuficiencia hepática grave (definida en función de parámetros de laboratorio hepáticos, tales como aspartato aminotransferasa [AST] y alanina aminotransferasa [ALT] con valores tres veces por encima del límite superior normal de laboratorio de acuerdo con la edad y género;
    • Insuficiencia renal grave, con niveles de creatina sérica 1,5 veces por encima del límite superior normal de laboratorio;
    • Manifestaciones severas de la enfermedad de Niemann-Pick tipo C (NP-C) que interfieran con la capacidad del paciente para cumplir con los requisitos de este protocolo;
    • Según la opinión del investigador, la condición clínica del paciente no permite la obtención de la sangre ni de las biopsias de la piel requeridos según los procedimientos especificados por el protocolo;
    • Tratamiento con cualquier medicamento en investigación (IMP) en las 4 semanas previas a la inclusión en el estudio, o durante el estudio;
    • No se permite la participación actual en otro ensayo salvo que se trate de un estudio no intervencional y cuyo único propósito sea el seguimiento a largo plazo/obtención de datos
    de supervivencia (registro);
    • Se excluirá a los pacientes si existe un riesgo confirmado vinculado con el procedimiento de IRM [es decir, marcapasos cardíaco implantado, implantes cocleares, cuerpos extraños
    implantados en el ojo o el SNC (tales como grapas para aneurisma en el SNC), cualquier dispositivo o cable de metal o alambre que pudiera concentrar campos de radiofrecuencia,
    y/o antecedentes confirmados de reacción adversa grave inesperada a la sedación o anestesia (si se necesita sedación)];
    • Los pacientes serán excluidos si existe un riesgo confirmado vinculado con el procedimiento de biopsia de piel por punch, como trombocitopenia, de acuerdo con la opinión del investigador.
    E.5 End points
    E.5.1Primary end point(s)
    1. Clinical Status Endpoints
    NP-C clinical status scores [NP-C Clinical Severity Scale and NP-C "Stampfer" Score] to document the clinical progression of NP-C.
    Quality of life questionnaire applied to the patients (and/or the patients' parent[s]/legal guardian[s])

    2. Imaging Endpoints
    Changes in the central nervous system (CNS) structure and function
    (assessed by magnetic resonance imaging [MRI] and magnetic
    resonance spectroscopy [MRS])
    Changes in the size and/or characteristics of the liver and spleen
    (assessed by ultrasound)

    3. Biomarker Endpoints
    As there are no validated biomarkers in NP-C to evaluate disease
    progression burden and potential therapeutic response, the biomarkers
    (as listed in Table 14-1 of the protocol) will be explorative to confirm
    clinical observations and characterise the individual patient clinical
    status at every assessment time point. Absolute values in the listed
    biomarkers will be recorded and analysed.

    4. Safety Endpoints
    Incidence of AEs (disease related and treatment related)
    Safety laboratory parameters, including haematology and clinical chemistry
    Changes in physical examination
    Changes in vital signs
    Clinical relevant changes in electrocardiograms (ECGs)
    1. Parámetros del estado clínico:
    Evaluación del estado clínico de NP-C: la escala de severidad de NP-C y el “Stampfer Score” serán utilizarán para seguir la evolución general de NP-C
    cuestionario de calidad de vida para los pacientes/progenitores

    2. Parámetros de imágen:
    Cambios en la estructura y función del sistema nervioso central (SNC) (evaluados a través de imágenes por resonancia magnética [IRM] y espectroscopia de resonancia magnética [ERM]);
    Cambios en el tamaño y/o características del hígado y bazo (evaluada por ecografía).

    3. Parámetros de marcadores biológicos:
    Proteína NPC1, función de la proteína NPC1: Esterificación del colesterol, fosforilación de HSF-1, oxiesteroles, colesterol no esterificado y HSP70.

    4. Parámetros de seguridad:
    Acontecimientos adversos (AA) (relacionados con la enfermedad y/o relacionados con el tratamiento), hematología, bioquímica clínica, examen físico, signos vitales y electrocardiograma (ECG).
    E.5.1.1Timepoint(s) of evaluation of this end point
    All selected biological markers, clinical data and imaging will be evaluated at inclusion and after 26 weeks (± 2weeks) in order to define the biological/clinical status and progression pattern of the disease in each patient.
    Todos los marcadores biológicos seleccionados, los datos clínicos y de imagen serán evaluados en la inclusión y después de 26 semanas (± 2 semanas) con el fin de definir el estado biológico / clínico y la progresion de la enfermedad en cada paciente.
    E.5.2Secondary end point(s)
    E.5.2.1Timepoint(s) of evaluation of this end point
    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 No
    E.6.5Efficacy No
    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 Yes
    E.6.13.1Other scope of the trial description
    Evaluate disease burden and progression profile
    E.7Trial type and phase
    E.7.1Human pharmacology (Phase I) Yes
    E.7.1.1First administration to humans No
    E.7.1.2Bioequivalence study No
    E.7.1.3Other Yes
    E. trial type description
    prospective-retrospective non-therapeutic interventional study
    E.7.2Therapeutic exploratory (Phase II) No
    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 No
    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. trial design description
    prospective-retrospective non-therapeutic
    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 concerned3
    E.8.5The trial involves multiple Member States Yes
    E.8.5.1Number of sites anticipated in the EEA20
    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
    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
    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 months11
    E.8.9.1In the Member State concerned days
    E.8.9.2In all countries concerned by the trial months11
    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: 35
    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: 18
    F.1.1.6Adolescents (12-17 years) Yes
    F. of subjects for this age range: 17
    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 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. of subjects incapable of giving consent
    Mentally Handicapped children and where brain / central nervous system are affected
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state10
    F.4.2 For a multinational trial
    F.4.2.1In the EEA 30
    F.4.2.2In the whole clinical trial 40
    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)
    Following this study, eligible patients will, upon their willingness and if they comply with the respective enrolment criteria, be invited to participate in a planned Phase II prospective interventional therapeutic study evaluating safety and efficacy of arimoclomol, a new investigational medicinal product (IMP)
    G. Investigator Networks to be involved in the Trial
    G.4 Investigator Network to be involved in the Trial: 1
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2015-07-13
    N.Ethics Committee Opinion of the trial applicationFavourable
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion2015-06-05
    P. End of Trial
    P.End of Trial StatusCompleted
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    The status and protocol content of GB trials is no longer updated since 1 January 2021. For the UK, as of 31 January 2021, EU Law applies only to the territory of Northern Ireland (NI) to the extent foreseen in the Protocol on Ireland/NI. Legal notice
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