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Spinal Muscular AtrophyPhase 2JewelfishNCT03032172

A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy

A Phase 2 study testing Risdiplam in people with Spinal Muscular Atrophy, run by Hoffmann-La Roche at 24 sites in 9 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or… Read more about this study

Who is it for?
Ages 6 months to 60 years
Conditions the study is for
Spinal Muscular Atrophy
What is being tested?
Risdiplam
Type of treatment
Pill or oral medicine
Could I receive a placebo?
No, everyone receives an active treatment
How many people
174 participants
Where
24 sitesin 9 countries
Study dates
3 Mar 2017to 7 Feb 2025
Phase
Phase 2
Are there results?
Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 6 months to 60 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Who may be able to join

  • Confirmed diagnosis of 5q-autosomal recessive SMA
  • Previous enrollment in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or previous treatment with any of the following: 1.) Nusinersen (defined as having received >= 4 doses of nusinersen, provided that the last dose was received >= 90 days prior to screening) or 2.) Olesoxime (provided that the last dose was received <= 12 months and >= 90 days prior to screening) or 3.) AVXS-101 (provided that the time of treatment was >= 12 months prior to screening)
  • Adequately recovered from any acute illness at the time of screening and considered well enough to participate in the opinion of the Investigator
  • For women of childbearing potential: negative blood pregnancy test at screening, agreement to remain abstinent (refrain from heterosexual intercourse) or use contraceptive measures, and agreement to refrain from donating eggs for at least 28 days after the final dose of study drug
  • For men: agreement to remain abstinent (refrain from heterosexual intercourse) or use contraceptive measures and agreement to refrain from donating sperm
  • For participants aged 2 years or younger at screening: 1.) Parent or caregiver of participant is willing to consider nasogastric, naso-jejunal or gastrostomy tube placement, as recommended by the Investigator, during the study to maintain safe hydration, nutrition and treatment delivery; 2.) Parent or caregiver of participant is willing to consider the use of non-invasive ventilation, as recommended by the Investigator during the study

Who cannot join

  • Inability to meet study requirements
  • Concomitant participation in any investigational drug or device study
  • Previous participation in any investigational drug or device study within 90 days prior to screening, or 5 half-lives of the drug, whichever is longer with the exception of studies of olesoxime, AVXS-101, or nusinersen
  • Any history of gene or cell therapy, with the exception of AVXS-101
  • Unstable gastrointestinal, renal, hepatic, endocrine, or cardiovascular system diseases as considered to be clinically significant by the Investigator
  • Inadequate venous or capillary blood access for the study procedures, in the opinion of the Investigator
Show all 20Show fewer
  • For patients aged < 2 years, hospitalization for a pulmonary event within 2 months prior to screening and pulmonary function not fully recovered at the time of screening
  • Lactating women
  • Suspicion of regular consumption of drugs of abuse
  • For adults and adolescents only, positive urine test for drugs of abuse or alcohol at screening or Day -1 visit
  • Presence of clinically significant electrocardiogram (ECG) abnormalities before study drug administration from average of triplicate measurement or cardiovascular disease
  • History of malignancy if not considered cured
  • For participants aged > 6 years, significant risk for suicidal behavior, in the opinion of the Investigator as assessed by the Columbia-Suicide Severity Rating Scale (C-SSRS)
  • 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
  • Recently initiated treatment for spinal muscular atrophy (within <6 weeks prior to enrollment) with oral salbutamol or another beta 2-adrenergic agonist taken orally
  • Any prior use of chloroquine, hydroxychloroquine, retigabin, vigabatrin or thioridazine, is not allowed
  • Ascertained or presumptive hypersensitivity (e.g., anaphylactic reaction) to risdiplam or to the constituents of its formulation
  • Concomitant disease or condition that could interfere with, or treatment of which might interfere with, the conduct of the study, or that would, in the opinion of the Investigator, pose an unacceptable risk to the participant in this study
  • Recent history (less than one year) of ophthalmological diseases
  • Any prior use of an inhibitor or inducer of FMO1 or FMO3 taken within 2 weeks (or within 5 elimination half-lives, whichever is longer) prior to dosing

Trial locations and contacts

24 sites in 9 countries.

24 sites in 9 countries

France5 sites
  • Hopital Femme Mere Enfant

    Bron, 69677

  • Hopital Roger Salengro

    Lille, 59037

  • CHRU de Montpellier, Hopital Gui de Chauliac

    Montpellier, 34295

  • Hôpital Necker-Enfants Malades

    Paris, 75015

  • Hopital des Enfants

    Toulouse, 31059

Other trials in France

Italy5 sites
  • IRCCS Istituto Giannina Gaslini

    Genoa, Liguria, 16147

  • UOSD Malattie Neurodegenerative

    Messina, Sicily, 98125

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    Milan, Lombardy, 20122

  • IRCCS Ospedale Pediatrico Bambino Gesù

    Rome, Lazio, 00165

  • Policlinico Agostino Gemelli

    Rome, Lazio, 00168

Other trials in Italy

United States4 sites
  • Boston Childrens Hospital

    Boston, Massachusetts, 02115

  • Columbia University Medical Center

    New York, New York, 10032

  • Nemours Children's Hospital

    Orlando, Florida, 32827

  • Stanford University Medical Center

    Palo Alto, California, 94304

Other trials in United States

United Kingdom3 sites
  • Birmingham Heartlands Hospital

    Birmingham, B9 5SS

  • UCL Institute of Child Health & Great Ormond Street Hospital for Children

    London, WC1N 1EH

  • The Newcastle upon Tyne Hospitals NHS Foundation Trust

    Newcastle upon Tyne, NE1 4LP

Other trials in United Kingdom

Belgium2 sites
  • UZ Gent

    Ghent, 9000

  • UZ Leuven Gasthuisberg

    Leuven, 3000

Other trials in Belgium

Germany2 sites
  • Universitätsklinikum Essen

    Essen, 45147

  • Universitätsklinikum Freiburg

    Freiburg im Breisgau, 79106

Other trials in Germany

Netherlands1 site
  • UMC Utrecht

    Utrecht, 3584 CX

Other trials in Netherlands

Poland1 site
  • Klinika Neurologii I Wydzialu Lekarskiego WUM w Warszawie

    Warsaw, 02-097

Other trials in Poland

Switzerland1 site
  • Universitäts-Kinderspital (UKBB) Neuropädiatrie

    Basel, 4005

Other trials in Switzerland

About this study

Official title: An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of Risdiplam (RO7034067) in Adult and Pediatric Patients With Spinal Muscular Atrophy

This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or previously treated with nusinersen, olesoxime or AVXS-101.

Being tested
Risdiplam
Medical subject headings
Muscular Atrophy, Spinal

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • RisdiplamDrug

    Also called RO7034067

    Risdiplam will be administered orally once daily.

Study groups in NCT03032172
Study groupRoleWhat they receive
RisdiplamExperimentalParticipants will receive multiple doses of risdiplam orally once daily for 24 months. After 24-month treatment, participants will be offered the opportunity to enter the open-label extension (OLE) phase for 3 years.
Receives: Drug: Risdiplam

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Number of Participants With Adverse Events (AEs)

    An AE was any untoward medical occurrence in a clinical investigation participant administered a pharmaceutical product, regardless of causal attribution. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease temporally associated with the use of a medicinal product, whether or not considered related to the medicinal product.

    Measured: Baseline up to 5 years

  2. Number of Participants Who Discontinued Treatment Due to AEs

    An AE was any untoward medical occurrence in a clinical investigation participant administered a pharmaceutical product, regardless of causal attribution. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease temporally associated with the use of a medicinal product, whether or not considered related to the medicinal product. Participants who discontinued treatment due to AEs are reported here.

    Measured: Baseline up to 5 years

  3. Number of Participants With Shift in Puberty Status From Baseline

    Tanner staging of sexual development is a scale used to assess physical maturation as children transition through adolescence into adulthood. Scale defines physical development based on the following characteristics: pubic hair, penis, and testes development in boys; and pubic hair and breast development in girls. It consists of 5 stages, Stage I (prepubertal) to Stage V (mature adult). Participants under 9 years at screening began Tanner staging assessments at 1st visit following their 9th birthday. Tanner data are presented in three categories: Normal (expected stage of puberty based on participant's age at post-baseline visit), Delayed (pubertal development is behind expectations for age at post-baseline visit), \& Missing (participant did not attend scheduled visit). Tanner staging assessments were scheduled for participants aged 9-17 years but were also conducted in some older participants, up to age 22. Shift in puberty status from baseline to each week has been represented here.

    Measured: Baseline, Week 52, 104, 156, 208 and 260

  4. Number of Participants With Protocol-defined Neurological Conditions (NC)

    Neurological examination was performed by asking questions to the participants and/or their caregiver, as well as observing the participants' behavior in general and while performing certain tasks. Questions and tasks were adapted to the age and motor ability of the participant. For very young participants, observing reaction to a sound, speech development, shifting attention to a newly introduced toy, observing the participant interact with the parent/caregiver \& for older participants examination of social interaction (school, friends, activities, job as appropriate), memory (e.g., with short word recall), reasoning \& language, drawing, etc. Participants with neurological conditions besides those expected with SMA and those expected with SMA are reported.

    Measured: Baseline up to Week 260

  5. Number of Participants With Emergence or Worsening of Symptoms as Assessed Using Columbia Suicide Severity Rating Scale (C-SSRS)

    C-SSRS was used to assess the lifetime suicidality of a participant (baseline) as well as any new instances of suicidality (since last visit). The interview prompts recollection of suicidal ideation (SI), including the intensity of the ideation, behavior and attempts with actual/potential lethality. A modified and reduced version (pediatric version) was used for children (aged 6-11 years). Categories have binary responses (yes/no) \& include: Wish to be Dead; Non-specific Active Suicidal Thoughts; Active SI with Any Methods (Not Plan) without Intent to Act; Active SI with Some Intent to Act, without Specific Plan; Active SI with Specific Plan \& Intent, Preparatory Acts \& Behavior; Aborted Attempt; Interrupted Attempt; Actual Attempt (non-fatal); Completed Suicide. SI or behavior is indicated by a "yes" answer to any of the listed categories. A score of 0 is assigned if no suicide risk is present. A score of 1 or higher indicates SI or behavior.

    Measured: Up to approximately 5 years

  6. Anthropometric Examination: Change From Baseline in Weight

    Weight was measured at baseline, Weeks 65, 91, and every 13 weeks thereafter for participants 2-17 years and at every visit for participants <2 years. Per protocol, height was not measured at Day 7, Weeks 8, 17, 35, and thus not collected for all participants. No participants in the RO6885247 arm attended the Weeks 65, 169, 195, and 247 visit; none in the AVXS-101 arm attended the Week 247 visit. Symptom-directed height/weight assessments were done at clinically indicated visits as needed.

    Measured: Baseline up to Week 260

  7. Anthropometric Examination: Change From Baseline in Height

    Height of all participants able to stand was measured while standing using a stadiometer, with at least 3 independent measurements, which were averaged. Participants unable to stand during the measurement, height was derived from measurement of ulna length. For very young children, height was measured with child in a lying position using an inflexible length board with fixed headboard \& movable footboard. Height was measured: baseline, Weeks 13,39,52,78 \& 104 for participants 2-17 years; Weeks 52 \& 104 for >17 years \& every visit for participants <2 years. After Week 104, measurements occurred every 26 weeks. Per protocol, height was not measured at Weeks 2,4,17,26,35,43,61,65,87,91,96,117,143,169,195,221 \&247 \& thus not collected for all participants. No participants <17 years in RO6885247, Olesoxime, or AVXS-101 arms attended the Week 260 visit \& no participants in RO6885247 arm attended Week 39. Symptom-directed height assessments were done at clinically indicated visits as needed.

    Measured: Baseline up to Week 260

  8. Anthropometric Examination: Change From Baseline in Head Circumference

    Head circumference for participants aged < 5 years was measured to the nearest 0.1 cm using a flexible, non-stretchable tape. Head circumference was measured around the widest part of the head from the most prominent point on the back of the head (occiput) to the most prominent part of the forehead between the eyebrows. The measurement was repeated three times, and the largest measurement was recorded. Head circumference was assessed for participants < 5 years of age. Since all participants in the RO6885247 and Olesoxime arms were > 5 years, data were not collected for these arms. Head circumference was not collected at Weeks 35 and 61 (AVXS-101 arm) and Weeks 87, 182, and 208 (Nusinersen arm) because the protocol only required this measurement for participants < 5 years of age. At these timepoints, neither of the participants < 5 years attended the visit, and other participants may have been > 5 years of age.

    Measured: Baseline up to Week 208

  9. Maximum Plasma Concentration (Cmax) of Risdiplam

    As pre-specified in the protocol, the PK data were not to be compared between participants who received different prior treatments (RO6885247, nusinersen, olesoxime and AVXS-101) received before entering this study, but to analyze the PK parameters of risdiplam. Hence, PK data have been presented in a single arm group irrespective of prior therapies received by the participants in previous studies.

    Measured: Predose on Weeks 2, 4, 13, 26, 39, 52, 65, 91 and post-dose on Weeks 1, 4, 13, 52, 91 and 104

  10. Area Under the Concentration-Time Curve (AUC0-24h) of Risdiplam

    As pre-specified in the protocol, the PK data were not to be compared between participants who received different prior treatments (RO6885247, nusinersen, olesoxime and AVXS-101) received before entering this study, but to analyze the PK parameters of risdiplam. Hence, PK data have been presented in a single arm group irrespective of prior therapies received by the participants in previous studies.

    Measured: 24 hours Postdose at Year 2 Visit

  11. Plasma Trough Concentration (Ctrough) of Risdiplam

    As pre-specified in the protocol, the PK data were not to be compared between participants who received different prior treatments (RO6885247, nusinersen, olesoxime and AVXS-101) received before entering this study, but to analyze the PK parameters of risdiplam. Hence, PK data have been presented in a single arm group irrespective of prior therapies received by the participants in previous studies.

    Measured: Predose at Year 5 visit

Secondary outcomes (1)
  1. Survival of Motor Neuron (SMN) Protein Levels in Blood

    SMA is caused by a homozygous deletion or mutation of the SMN 1 gene, which encodes SMN, an essential protein expressed in both neuronal and non-neuronal cells. In humans, there are two SMN genes, the SMN1 gene and its paralog SMN2. Risdiplam directly targets the underlying molecular deficiency of the disease and promotes the inclusion of exon 7 to generate full-length SMN2 mRNA, which therefore increases the production of functional SMN protein. As pre-specified in the protocol, the PD data were not to be compared between participants who received different prior treatments, but to analyze the PD parameters of risdiplam. Hence, PD data have been presented in a single arm group irrespective of prior therapies received by the participants in previous studies.

    Measured: Baseline and Year 5

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted26 Jan 2017 (estimated)
  2. Study start3 Mar 2017
  3. Primary completion7 Feb 2025
  4. Study completion7 Feb 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 2
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
174 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03032172
Sponsor's protocol ID
BP39054
Other IDs
2016-004184-39, 2023-506739-14-00, 2023, 2016
Acronym
Jewelfish
Status last verified
Sep 2025
First submitted
24 Jan 2017
Last updated
1 Oct 2025
Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
Yes: For eligible studies, qualified researchers may request access to individual patient level clinical data. See Roche's commitment to transparency of clinical study information here: https://go.roche.com/data\_sharing

Publications

  • 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.

    PubMed 37148485

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing Risdiplam in people with Spinal Muscular Atrophy, run by Hoffmann-La Roche at 24 sites in 9 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 20 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 1 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 24 sites in France, Italy, United States, United Kingdom, Belgium and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Yes. Results are posted in the registry (first posted 1 Oct 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of Participants With Adverse Events (AEs) (time frame: Baseline up to 5 years). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03032172, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2025.

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