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    Summary
    EudraCT Number:2021-006224-40
    Sponsor's Protocol Code Number:AxGD
    National Competent Authority:Poland - Office for Medicinal Products
    Clinical Trial Type:EEA CTA
    Trial Status:Completed
    Date on which this record was first entered in the EudraCT database:2022-05-13
    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 ConcernedPoland - Office for Medicinal Products
    A.2EudraCT number2021-006224-40
    A.3Full title of the trial
    Evaluation of the safety and efficacy of ambroxol (ABX) use in Polish patients with Gaucher disease, presenting neuronopathic type (GD type III, GD3) resulting from homozygous c.1448T>C mutation (p.Leu483Pro) in the GBA gene and GD types caused by other GBA variants, on the basis of the clinical picture and multi-omic analyses
    Ocena bezpieczeństwa i skuteczności stosowania ambroksolu (ABX) u polskich pacjentów z chorobą Gauchera, w tym postacią neuronopatyczną (GD typu III, GD3) wynikającą z homozygotycznej mutacji c.1448T>C (p.Leu483Pro) w genie GBA oraz z postaciami GD typu I i III związanymi z nosicielstwem innych wariantów GBA, na podstawie obrazu klinicznego i analiz multiomicznych
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    Evaluation of thesafety and efficacy of ambroxol in Gaucher disease caused by carrying the c.1448T>C mutation (p.Leu483Pro) and other rare variants of the GBA gene, based on clinical evaluation and results of genetic and metabolomic analyses
    Ocena bezpieczeństwa i skuteczności stosowania ambroksolu w chorobie Gauchera spowodowanej nosicielstwem mutacji c.1448T>C (p.Leu483Pro) oraz innych rzadkich wariantów genu GBA, na podstawie oceny klinicznej i wyników analiz genetycznych i metabolomicznych
    A.3.2Name or abbreviated title of the trial where available
    AxGD
    AxGD
    A.4.1Sponsor's protocol code numberAxGD
    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 SponsorInstytut ,,Pomnik-Centrum Zdrowia Dziecka"
    B.1.3.4CountryPoland
    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 supportAgencja Badań Medycznych
    B.4.2CountryPoland
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationInstytut ,,Pomnik-Centrum Zdrowia Dziecka"
    B.5.2Functional name of contact pointDariusz Rokicki
    B.5.3 Address:
    B.5.3.1Street AddressAl. Dzieci Polskich 20
    B.5.3.2Town/ cityWarszawa
    B.5.3.3Post code04-730
    B.5.3.4CountryPoland
    B.5.4Telephone number+48228157545
    B.5.6E-maild.rokicki@ipczd.pl
    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 DEFLEGMIN 75mg, kapsułki o przedłużonym uwalnianiu
    D.2.1.1.2Name of the Marketing Authorisation holderBausch Health Ireland Limited
    D.2.1.2Country which granted the Marketing AuthorisationIreland
    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.3.4Pharmaceutical form Capsule
    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 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
    Gaucher disease
    choroba Gauchera
    E.1.1.1Medical condition in easily understood language
    a genetically determined disease that belongs to the group of lysosomal storage diseases, specifically sphingolipidosis
    choroba uwarunkowana genetycznie, należąca do grupy lizosomalnych chorób spichrzeniowych, dokładnie sfingolipidoza
    E.1.1.2Therapeutic area Diseases [C] - Nutritional and Metabolic Diseases [C18]
    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
    The aim of the study is to analyze the use of ambroxol in patients with certain genotypes of Gaucher disease, to assess the safety and clinical improvement, taking into account biomarkers, molecular mechanisms at the level of methylome and transcriptome (RNA and small RNA), the effect on methylation and metabolomic indicators, and to verify this effect in protein model.
    Celem badania jest analiza stosowania ambroksolu u chorych z określonymi genotypami choroby Gauchera, ocena bezpieczeństwa i poprawy klinicznej z uwzględnieniem biomarkerów, mechanizmów molekularnych na poziomie metylomu i transkryptomu (RNA i tzw. małych RNA), wpływu na metylację i wykładniki metabolomiczne oraz weryfikacja tego efektu w modelu białkowym.
    E.2.2Secondary objectives of the trial
    Assessment of methylation, RNA expression and metabolome after inclusion and withdrawal of ambroxol
    Ocena metylacji, ekspresji RNA oraz metabolomu po włączeniu i odstawieniu ambroksolu
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    1. Diagnosis of Gaucher's disease - GD1-PD (presence of at least 2 clinical features characteristic of early signs of Parkinson's disease: resting tremor, hypomimia, dysarthria, salivation, freezing, ataxia/ gait disturbance, sleep disturbance, cognitive impairment, speech impairment, pyramidal disorder) or GD3 - confirmed by molecular test result
    2. Age 10-65 years
    3. Signing the informed consent to participate in the study by the patient or, in the case of a minor patient, by parents or legal guardians
    4. Stable over the last year hematological parameters (peripheral blood counts, INR), biochemical parameters (transaminases, creatinine) and biomarkers (chitotriosidase, lyso-GL1)
    5. Fixed dose of enzyme therapy for at least 1 year and unchanged during study period
    6. The use of ABX in the 12 months prior to the study enrollment (group I)
    7. Failure to use ABX at all before entering the study (group II)
    1. Rozpoznanie choroby Gauchera – GD1-PD (występowanie co najmniej 2 cech klinicznych charakterystycznych dla wczesnych oznak choroby Parkinsona: drżenie spoczynkowe, hipomimia, dyzartria, ślinotok, zamrożenie, ataksja/zaburzenia chodu, zaburzenia snu, zaburzenia poznawcze, zaburzenia mowy, zaburzenia piramidowo-pozapiramidowe) lub GD3 – potwierdzone wynikiem badania molekularnego
    2. Wiek 10-65 lat
    3. Podpisanie świadomej zgody na udział w badaniu przez pacjenta lub w przypadku pacjenta niepełnoletniego przez rodziców lub opiekunów prawnych
    4. Stabilne w ciągu ostatniego roku parametry hematologiczne (morfologia krwi obwodowej, INR), biochemiczne (transaminazy, kreatynina) i biomarkery (chitotriozydaza, lyso-GL1)
    5. Stała dawka leczenia enzymatycznego od przynajmniej 1 roku i nie zmieniana w czasie udziału w badaniu.
    6. Stosowanie ABX w okresie 12 miesięcy przed włączeniem do badania (grupa I)
    7. Niestosowanie w ogóle ABX przed włączeniem do badania (grupa II).
    E.4Principal exclusion criteria
    1. Hypersensitivity to the active substance or any of the auxiliary substances
    2. Genetically determined states of auxiliary substance intolerance (fructose intolerance, glucose-galactose malabsorption syndrome, sucrase-isomaltase deficiency).
    3. Renal impairment (eGFR <90 ml / min)
    4. Liver Injury: ALT or AST 2.5 times of ULN
    5. Peptic ulcer disease of the stomach or duodenum
    6. Pregnancy, breast-feeding or the refusal to use effective methods of contraception or sexual continence during the study in women of childbearing age
    7. Use of another study drug within 6 months prior to study enrollment or participation in other studies at the time of enrollment
    8. Swallowing disorders or inability to take the study drug orally
    1. Nadwrażliwość na substancję czynną lub którąkolwiek substancję pomocniczą
    2. Genetycznie uwarunkowane stany nietolerancji substancji pomocniczych (nietolerancja fruktozy, zespół złego wchłaniania glukozy-galaktozy, niedobór sacharazy-izomaltazy).
    3. Zaburzenia czynności nerek (eGFR < 90 ml/min)
    4. Uszkodzenie wątroby: ALT lub AST 2,5 x powyżej górnej granicy normy
    5. Choroba wrzodowa żołądka lub dwunastnicy
    6. Ciąża, karmienie piersią lub odmowa stosowania skutecznych metod zapobiegania ciąży lub zachowania wstrzemięźliwości seksualnej w trakcie trwania badania u kobiet w wieku rozrodczym
    7. Stosowanie innego badanego leku w ciągu 6 miesięcy przed włączeniem do badania lub udział w innych badaniach w momencie kwalifikacji
    8. Zaburzenia połykania lub niemożność doustnego przyjmowania badanego leku
    E.5 End points
    E.5.1Primary end point(s)
    1. Clinical status of patients with Gaucher disease (GD1-PD and GD3) defined as a reduction in mSST scores of neurological symptoms after 90 and 180 days of ABX treatment compared to baseline values.
    2. Clinical status of patients with Gaucher disease (GD3), defined as an increase in the mSST score of neurological symptoms 30 days after discontinuation of ABX.
    3. Improvement in hematological parameters (normalization of hemoglobin concentration, normalization of platelet count, normalization of INR values) after 90 and 180 days of ABX treatment compared to baseline values
    4. Reduction in chitotriosidase activity and lyso- (GL1) levels after 90 and 180 days of ABX treatment compared to baseline values
    5. Improvement in bone density after 180 days of ABX treatment compared to baseline values
    6. Safety of the drug used
    1. Stan kliniczny pacjentów z chorobą Gauchera (GD1-PD oraz GD3) definiowany jako zmniejszenie liczby punktów w skali mSST objawów neurologicznych po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych.
    2. Stan kliniczny pacjentów z chorobą Gauchera (GD3) definiowany jako zwiększenie liczby punktów w skali mSST objawów neurologicznych po 30 dniach od zaprzestania stosowania ABX.
    3. Poprawa parametrów hematologicznych (normalizacja stężenia hemoglobiny, normalizacja liczby płytek krwi, normalizacja wartości INR) po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    4. Zmniejszenie aktywności chitotriozydazy oraz stężenia lyso- (GL1) po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    5. Poprawa gęstości kośćca po 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    6. Bezpieczeństwo stosowanego leku
    E.5.1.1Timepoint(s) of evaluation of this end point
    1. after 90 and 180 days of ABX treatment compared to baseline values
    2. after 30 days of ABX discontinuation
    3. after 90 and 180 days of ABX treatment relative to baseline values
    4. after 90 and 180 days of ABX treatment relative to baseline values
    5. after 180 days of ABX treatment relative to baseline values
    1. po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    2. po 30 dniach od zaprzestania stosowania ABX
    3. po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    4. po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    5. po 180 dniach leczenia ABX w stosunku do wartości wyjściowych
    E.5.2Secondary end point(s)
    Assessment of methylation, RNA expression and metabolome
    Ocena metylacji, ekspresji RNA oraz metabolomu
    E.5.2.1Timepoint(s) of evaluation of this end point
    After 90 and 180 days of ABX treatment compared to baseline values in group II and 30 days after ABX withdrawal in group I
    Po 90 i 180 dniach leczenia ABX w stosunku do wartości wyjściowych w grupie II oraz 30 dni po odstawieniu ABX w grupie I
    E.6 and E.7 Scope of the trial
    E.6Scope of the trial
    E.6.1Diagnosis Yes
    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 Yes
    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 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 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 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
    LVLS
    LVLS
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years0
    E.8.9.1In the Member State concerned months12
    E.8.9.1In the Member State concerned days0
    E.8.9.2In all countries concerned by the trial years0
    E.8.9.2In all countries concerned by the trial months12
    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.1.1Number of subjects for this age range: 4
    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: 1
    F.1.1.6Adolescents (12-17 years) Yes
    F.1.1.6.1Number of subjects for this age range: 3
    F.1.2Adults (18-64 years) Yes
    F.1.2.1Number of subjects for this age range: 36
    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 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 No
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state40
    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
    Brak
    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 Decision2023-01-20
    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 StatusCompleted
    P.Date of the global end of the trial2025-01-09
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