Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy

NCT ID: NCT02913482

Last Updated: 2024-08-07

Study Results

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

62 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-12-23

Study Completion Date

2023-12-22

Brief Summary

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Open-label, multi-center clinical study is to assess the safety, tolerability, pharmacokinetic (PK), pharmacodynamics (PD), and efficacy of Risdiplam (RO7034067) in infants with Type 1 spinal muscular atrophy (SMA). The study consists of two parts, an exploratory dose finding part (Part 1) and a confirmatory part (Part 2) which will investigate Risdiplam (RO7034067) for 24-months at the dose selected in Part 1.

Detailed Description

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Conditions

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Muscular Atrophy, Spinal

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Part 1 (Dose Finding): Risdiplam (RO7034067)

Participants will receive multiple ascending doses of risdiplam (RO7034067), administered orally once daily for a minimum of 4 weeks to select the dose for Part 2. During the first year of treatment, most participants will switch to the Part 2 dose. During the second year of treatment, all Part 1 participants will be receiving the Part 2 dose. They will thereafter enter a 3-year open-label extension phase and continue to receive risdiplam at the same dose.

Group Type EXPERIMENTAL

Risdiplam

Intervention Type DRUG

Risdiplam will be administered orally.

Part 2 (Confirmatory): Risdiplam (RO7034067)

Participants will receive risdiplam (RO7034067), administered orally once daily at the dose defined in Part 1 of the study, for a duration of 24 months. They will thereafter enter a 3-year open-label extension phase and continue to receive risdiplam at the same dose.

Group Type EXPERIMENTAL

Risdiplam

Intervention Type DRUG

Risdiplam will be administered orally.

Interventions

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Risdiplam

Risdiplam will be administered orally.

Intervention Type DRUG

Other Intervention Names

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RO7034067, Evrysdi

Eligibility Criteria

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Inclusion Criteria

* Clinical history, signs or symptoms attributable to Type 1 SMA with onset after 28 days but prior to the age of 3 months
* Gestational age of 37 to 42 weeks
* Confirmed diagnosis of 5q-autosomal recessive SMA
* Participants has two survival motor neuron 2 (SMN2) gene copies, as confirmed by central testing
* Body weight greater than or equal to (\>=) third percentile for age, using appropriate country-specific guidelines
* Receiving adequate nutrition and hydration (with or without gastrostomy) at the time of screening, in the opinion of the Investigator
* Adequately recovered from any acute illness at the time of screening and considered well-enough to participate in the opinion of the Investigator

Exclusion Criteria

* Concomitant or previous participation in any investigational drug or device study within 90 days prior to screening or 5 half-lives, whichever is longer
* Concomitant or previous administration of SMN2-targeting antisense oligonucleotide, SMN2 splicing modifier or gene therapy study
* Any history of cell therapy
* Hospitalization for pulmonary event within the last 2 months, or planned at the time of screening
* Presence of clinically relevant electrocardiogram (ECG) abnormalities before study drug administration
* Unstable gastrointestinal, renal, hepatic, endocrine or cardiovascular system diseases
* Participants requiring invasive ventilation or tracheostomy
* Participants requiring awake non-invasive ventilation or with awake hypoxemia (arterial oxygen saturation less than \[\<\] 95 percent \[%\]) with or without ventilator support
* Participants with a history of respiratory failure or severe pneumonia, and have not fully recovered their pulmonary function at the time of screening
* Multiple or fixed contractures and/or hip subluxation or dislocation at birth
* Presence of non-SMA related concurrent syndromes or diseases
* Any major illness within one month before the screening examination or any febrile illness within one week prior to screening and up to first dose administration
* Any inhibitor of cytochrome P450 (CYP) 3A4 and/or any Organic Cation Transporter 2 (OCT-2) and multidrug and toxin extrusion (MATE) substrates taken within 2 weeks and/or any inducer of CYP3A4 taken within 4 weeks (or within 5-times the elimination half-life, whichever is longer) prior to dosing or participants (and the mother, if breastfeeding the infant) taking any nutrients known to modulate CYP3A activity and any known flavin containing monooxygenase (FMO) 1 or FMO3 inhibitors or substrates
* Prior use (at any time in the participants lives) and/or anticipated need for quinolones (chloroquine and hydroxychloroquine), thioridazine, vigabatrin, retigabine, or any other drug known to cause retinal toxicity during the study. Infants exposed to chloroquine, hydroxycholoroquine, thioridazine, vigabatrin, retigabine or drugs with known retinal toxicity given to mothers during pregnancy (and lactation) should not be enrolled.
* Recent history (less than 6 months) of ophthalmic disease that would interfere with the conduct of the study as assessed by an ophthalmologist
* Therapeutic use, defined as use for 8 weeks or longer, of the following medications within 90 days prior to enrollment: riluzole, valproic acid, hydroxyurea, sodium phenylbutyrate, butyrate derivatives, creatine, carnitine, growth hormone, anabolic steroids, probenecid, agents anticipated to increase or decrease muscle strength, agents with known or presumed histone deacetylase (HDAC) inhibitory effect, medications known to or suspected of causing retinal toxicity (deferoxamine, topiramate, latanoprost, niacin, rosiglitazone, tamoxifen, canthaxanthine, sildenafil, and interferon) and medications with known phototoxicity liabilities (e.g., oral retinoids including over-the-counter \[OTC\] formulations, amiodarone, phenothiazines and use of minocycline)
Minimum Eligible Age

1 Month

Maximum Eligible Age

7 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hoffmann-La Roche

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Clinical Trials

Role: STUDY_DIRECTOR

Hoffmann-La Roche

Locations

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Stanford University Medical Center

Palo Alto, California, United States

Site Status

Ann and Robert H. Lurie Children Hospital of Chicago

Chicago, Illinois, United States

Site Status

Boston Childrens Hospital

Boston, Massachusetts, United States

Site Status

Columbia University Medical Center; The Neurological Institute of New York

New York, New York, United States

Site Status

UZ Gent

Ghent, , Belgium

Site Status

UZ Leuven Gasthuisberg

Leuven, , Belgium

Site Status

Chr de La Citadelle

Liège, , Belgium

Site Status

Instituto de Puericultura E Pediatria Martagão Gesteira

Rio de Janeiro, Rio de Janeiro, Brazil

Site Status

Hospital das Clinicas - FMUSP_X; Neurologia

São Paulo, São Paulo, Brazil

Site Status

Peking University First Hospital

Beijing, , China

Site Status

Children's Hospital of Fudan University

Shanghai, , China

Site Status

Clinical Medical Center Zagreb; University Hospital Rebro Department of Paediatrics

Zagreb, , Croatia

Site Status

Hopital Femme Mere Enfant; Medecine Physique et Readaptation Pediatrique ? L?ESCALE

Bron, , France

Site Status

Hopital Armand Trousseau

Paris, , France

Site Status

IRCCS Ospedale Pediatrico Bambino Gesù; U.O. Malattie Neuromuscolari e Neurodegenerative

Rome, Lazio, Italy

Site Status

Policlinico Agostino Gemelli; Dipartimento di Neuropsichiatria Infantile

Rome, Lazio, Italy

Site Status

IRCCS Istituto Giannina Gaslini; U.O.S.D. Centro di Miologia e Patologie Neurodegenerative

Genoa, Liguria, Italy

Site Status

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Unità Operativa Complessa di Neurologia

Milan, Lombardy, Italy

Site Status

Fondazione IRCCS Istituto Neurologico ?Carlo Besta?; UO di Neurologia dello Sviluppo

Milan, Lombardy, Italy

Site Status

Hyogo Medical University Hospital

Hyōgo, , Japan

Site Status

Szpital Gdanskiego Uniwersytetu Medycznego; Clinic of developmental neurology

Gda?sk, , Poland

Site Status

The Children?s Memorial Health Institute Department of Neurology and Epileptology

Warsaw, , Poland

Site Status

Russian Children Neuromuscular Center of Veltischev

Moscow, Moscow Oblast, Russia

Site Status

King Faisal Specialist Hospital and Research Centre Building

Riyadh, , Saudi Arabia

Site Status

Institute for Mother and Child Dr. Vukan Cupic

Belgrade, , Serbia

Site Status

Hospital Sant Joan De Deu

Esplugues de Llobregas, Barcelona, Spain

Site Status

Hospital Universitari Vall d'Hebron; Area Genética Clínica y Molecular

Barcelona, , Spain

Site Status

Hospital Universitario Virgen del Rocio

Seville, , Spain

Site Status

Universitäts-Kinderspital (UKBB) Neuropädiatrie

Basel, , Switzerland

Site Status

Hacettepe University, School of Medicine; Pediatrics Department; Pediatrics Child Neurology Unit

Ankara, , Turkey (Türkiye)

Site Status

Hospital Yeditepe University Kozyatagi; Pediatry

Atasehir- Istanbul, , Turkey (Türkiye)

Site Status

Ams of Ukraine; Inst. of Neurology, Psychiatry & Narcology

Kharkiv, , Ukraine

Site Status

Countries

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United States Belgium Brazil China Croatia France Italy Japan Poland Russia Saudi Arabia Serbia Spain Switzerland Turkey (Türkiye) Ukraine

References

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Cleary Y, Kletzl H, Grimsey P, Heinig K, Ogungbenro K, Silber Baumann HE, Frey N, Aarons L, Galetin A, Gertz M. Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children. Clin Pharmacokinet. 2023 Jun;62(6):891-904. doi: 10.1007/s40262-023-01241-7. Epub 2023 May 6.

Reference Type DERIVED
PMID: 37148485 (View on PubMed)

Masson R, Mazurkiewicz-Beldzinska M, Rose K, Servais L, Xiong H, Zanoteli E, Baranello G, Bruno C, Day JW, Deconinck N, Klein A, Mercuri E, Vlodavets D, Wang Y, Dodman A, El-Khairi M, Gorni K, Jaber B, Kletzl H, Gaki E, Fontoura P, Darras BT; FIREFISH Study Group. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14.

Reference Type DERIVED
PMID: 36244364 (View on PubMed)

Cances C, Vlodavets D, Comi GP, Masson R, Mazurkiewicz-Beldzinska M, Saito K, Zanoteli E, Dodman A, El-Khairi M, Gorni K, Gravestock I, Hoffart J, Scalco RS, Darras BT; ANCHOVY Working Group. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study. Orphanet J Rare Dis. 2022 Jul 29;17(1):300. doi: 10.1186/s13023-022-02455-x.

Reference Type DERIVED
PMID: 35906608 (View on PubMed)

Darras BT, Masson R, Mazurkiewicz-Beldzinska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047.

Reference Type DERIVED
PMID: 34320287 (View on PubMed)

Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, Fontoura P, Servais L; FIREFISH Working Group. Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med. 2021 Mar 11;384(10):915-923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24.

Reference Type DERIVED
PMID: 33626251 (View on PubMed)

Provided Documents

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Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Related Links

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http://roche-sma-clinicaltrials.com

roche-sma-clinicaltrials.com provides information about the Roche Firefish clinical trial NCT02913482 and molecule being investigated in SMA.

Other Identifiers

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2016-000778-40

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

BP39056

Identifier Type: -

Identifier Source: org_study_id

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