Jansky-Bielschowsky DiseasePhase 2NCT02678689

A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease

A Phase 2 study testing BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1) and Intracerebroventricular access device in people with Jansky-Bielschowsky Disease and Batten Disease, run by BioMarin Pharmaceutical at 4 sites in 4 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

Who is it for?: Ages Up to 17 years
Conditions the study is for: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
What is being tested?: BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1) and Intracerebroventricular access device
Type of treatment: Injection or infusion, Medical device
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 14 participants
Where: 4 sitesin 4 countries
Study dates: 22 Jan 2016to 20 Apr 2022
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 Up to 17 years
All sexes
No healthy volunteers
Child

Who may be able to join

Diagnosis of CLN2 disease as determined by TPP1 enzyme activity (dried blood spot) in the fibroblasts and leukocytes available at Screening
Quantitative clinical assessment of the Hamburg motor-language aggregate score 3-6 at Screening on CLN2 disease motor-language scale, as defined in the Ratings Assessment Guideline
< 18 years of age at the time of informed consent
Written informed consent from parent or legal guardian and assent form subject, if appropriate
Males and females who are of reproductive age should practice true abstinence, defined as no sexual activity, during the study and for 6 months after the study has been completed (or withdrawal from the study). If sexually active and not practicing true abstinence, males and females of reproductive age must use a highly effective method of contraception while participating in the study.
Ability to comply with protocol required assessments (ICV implantation, drug administration, laboratory sample collection, electroencephalogram (EEG), electrocardiogram (ECG),magnetic resonance imaging (MRI), etc.)

Who cannot join

Presence of another inherited neurological disease, e.g., other forms of CLN or seizures unrelated to CLN2 disease (patients with febrile seizures may be eligible)
Presence of another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, hemorrhage) or interference with disease rating (autism) before Screening
Presence of percutaneous feeding tube placement prior to enrollment
Has received stem cell, gene therapy, or ERT
Presence of contraindications for neurosurgery (e.g., congenital heart disease, severe respiratory impairment, or clotting abnormalities)
Presence of contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain)

Show all 14Show fewer

Episode of generalized motor status epilepticus within 4 weeks before the First Dose visit
Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks before the First Dose visit (enrollment may be postponed)
Presence of ventricular abnormality (hydrocephalus, malformation)
Presence of ventricular shunt
Has known hypersensitivity to any of the components of BMN 190
Has received any investigational mediation within 30 days before the first infusion of study drug or is scheduled to receive any investigational drug other than BMN 190 during the course of the study
Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's well being, safety, or clinical interpretability
Pregnancy any time during the study; a female subject judged by the investigator to be of childbearing potential will be tested for pregnancy

Trial locations and contacts

4 sites in 4 countries.

Country

City, postcode or hospital

4 sites in 4 countries

United States1 site

Nationwide Children's Hospital
Columbus, Ohio, 43205

Other trials in United States

Germany1 site

Universitaetsklinikum Hamburg-Eppendorf
Hamburg, 20246

Other trials in Germany

Italy1 site

Children's Hospital Bambino Gesù,IRCCS
Rome, Piazza, 00165

Other trials in Italy

United Kingdom1 site

Great Ormond Street Childrens Hospital
London, WC1N 3JH

Other trials in United Kingdom

About this study

Official title: A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease

This Phase 2 open-label, multicenter study will evaluate the safety, tolerability, and efficacy of BMN 190 intracerebroventricular (ICV) administration every other week (qow) for a period of 144 weeks, in patients with CLN2. The study is designed to assess disease progression in CLN2 patients treated with BMN 190 compared to natural history data from untreated historical controls.

Read the detailed description

BMN 190 is a recombinant form of human tripeptidyl peptidase 1 (TPP1), the enzyme deficient in patients with CLN2 diseases (also known as classical late-infantile CLN2, cLINCL, or Jansky-Bielschowsky disease), a form of Batten Disease. As an enzyme replacement therapy (ERT), BMN 190 is designed to help restore TPP1 enzyme activity. BMN 190 is designed to reduce the progressive, pathologic accumulation of lysosomal storage material. 190-203 is a Phase 2 open-label, multicenter study that will evaluate the safety, tolerability, and efficacy of BMN 190 in pediatric patients < 18 years of age with CLN2 disease. Study drug dosing will be determined by the patient's age and administered via intracerebroventricular (ICV) infusion every other week (qow), for a duration of 144 weeks.

Conditions: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease, CLN2 Disorder
Being tested: BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1), Intracerebroventricular access device
Medical subject headings: Neuronal Ceroid-Lipofuscinoses

What participants receive

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

BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)Biological
Also called recombinant human tripeptidyl peptidase-1 (rhTPP1), cerliponase alfa, Brineura®
Intracerebroventricular access deviceDevice
Surgical implantation of an MRI compatible ICV access device in the lateral ventricle of the right hemisphere is required for administration of study drug.

Study groups in NCT02678689
Study group	Role	What they receive
BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)	Experimental	An age-appropriate dose of BMN 190 administered via intracerebroventricular (ICV) infusion every other week (qow) for a duration of 144 weeks. Receives: Biological: BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1); Device: Intracerebroventricular access device

What is being measured

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

Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score.
Rate of decline in 0 to 6-point ML score, \& primary analysis was based on up to 3-1 matching of Study 190-901 evaluable participants with Study 190-203 ITT participants.
Rate of decline =(-1)x(48x7)x(Ending score - Starting score)/(Ending date - Starting date)
A positive rate of decline means that subject declined, a negative rate of decline means that subject improved.
The combined motor/gait and language (ML) score, as derived from Hamburg CLN2 rating scale, immediately preceding first infusion. The combined ML score is determined as sum of 0-3 point motor(M) \& language(L) subscales where 0 represents no function, \& 3 represents normal function, \& can range from 0(severely impaired) to 6(normal). Thus,high scores describe better function \& low scores describe poor function.
The starting assessment is baseline ML assessment \& ending assessment is last ML score >0. Note for Study 190-901, baseline ML assessment is defined as assessment of matching to Study 190-203 subj.
Measured: Baseline to Last assessment (Week 169)
Probability of Unreversed 2-Point Decline in Motor-language (ML) Score or Score of 0
An unreversed 2-point decline is any decline of 2 points or more that had not reversed to a 1-point decline (or better) at last recorded observation. An unreversed score of 0 is a decline to 0 that had not increased to a score >0 at last recorded observation
ML score decline is measured by motor \& language domains on CLN2 rating scale. Combined motor/gait \&language (ML) score, as derived from Hamburg CLN2 rating scale, immediately preceding first infusion. Combined ML score is determined as sum of the 0-3 point motor(M)\&language(L) where 0 represents no function, \& 3 represents normal function, \& can range from 0 (severely impaired) to 6 (normal). Thus, high scores describe better function \& low scores describe poor function
Model includes data up to week 169. Estimates from the model are presented for Wks 49, 97 \& 145
No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had unreversed 2-point decline/score of 0 at given time points.
Measured: Baseline to Last assessment (Week 169)
Probability of Decline of Unreversed Motor-language (ML) Score of 0
The combined motor/gait and language (ML) score, as derived from the Hamburg CLN2 rating scale, immediately preceding the first infusion. The combined ML score is determined as the sum of the 0-3 point motor (M) and language (L) subscales where 0 represents no function, and 3 represents normal function, and can range from 0 (severely impaired) to 6 (normal). Thus, high scores describe better function and low scores describe poor function.
Model includes data up to week 169. Estimates from the model are presented for Weeks 49, 97 and 145.
No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had unreversed decline/score of 0 at given time points
Measured: Baseline to Last assessment (Week 169)
Rate of Decline in Individual Motor Domains
Rate of decline = (-1) x (48 x 7) x (Ending score - Starting score)/(Ending date - Starting date).
A positive rate of decline means that the subject declined, a negative rate of decline means that the subject improved.
The 0-3 point motor (M) subscales, as derived from the Hamburg CLN2 rating scale, where 0 represents no function, and 3 represents normal function. Thus, high scores describe better function, and low scores describe poor function.
Measured: Baseline to Last assessment (Week 169)
Rate of Decline in Individual Language Domains
Rate of decline = (-1) x (48 x 7) x (Ending score - Starting score)/(Ending date - Starting date).
A positive rate of decline means that the subject declined, a negative rate of decline means that the subject improved.
The 0-3 point language (L) subscales, as derived from the Hamburg CLN2 rating scale, where 0 represents no function, and 3 represents normal function. Thus, high scores describe better function and low scores describe poor function.
Patients with baseline score of 0 are excluded.
Measured: Baseline to Last assessment (Week 169)

Secondary outcomes (9)

Probability of Decline of Disease Manifestation at Week 49 & 97
Disease manifestation is defined as post-baseline consecutive measurements of M,L,V/S scores<3, measured atleast 22days apart.
Combined motor-language-vision-seizure(MLVS)score as derived from Hamburg CLN2 rating scale, is determined as sum of 0-3 point motor(M)language(L)visio(V)\&seizure(S) subscales where 0 represents no function,\&3 represents normal function,\&can range from 0(severely impaired)to12(normal).Thus, high scores describe better function \& low scores describe poor function.
901 subj weighted according to no.of matches:weights for 3,2,\&1 study 901 subj matched to a given study 203 subj are 1/3,1/2, \&1 times N901/N203 respectively. N901 is no.of 901 subj matched to 203 subj(ie.18)\&N203 is no.203 subj who had matches (i.e.7).203 subj who had matches were assigned weight of 1.
No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had decline of disease manifestation at given time points
Measured: Baseline to Last assessment (Week 169)
Probability of Decline of Disease Manifestation at Week 145
Disease manifestation is defined as post-baseline consecutive measurements of M,L,V/S scores<3,measured atleast 22days apart
Combined MLVS score,as derived from Hamburg CLN2 rating scale,is determined as sum of 0-3 point motor(M)language(L)vision(V)\&seizure(S) subscales where 0 represents no function,\&3 represents normal function,\&can range from 0(severely impaired) to 12(normal).Thus,high scores describe better function\&low scores describe poor function
901 subj weighted according to no.of matches:weights for 3,2,\&1 study 901 subj matched to given study 203 subj are 1/3,1/2, \&1 times N901/N203 respectively.N901 is no.of 901 subj matched to 203 subj(ie.18)\&N203 is no.203 subj who had matches(i.e.7).203 subj who had matches were assigned weight of 1
Model includes data upto wk169.Estimates from model are presented for Wk145
No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had decline of disease manifestation at given time point
Measured: Baseline to Week 145
Change From Baseline in ML Scale Score
The combined motor/gait and language (ML) score, as derived from the Hamburg CLN2 rating scale, immediately preceding the first infusion. The combined ML score is determined as the sum of the 0-3 point motor (M) and language (L) subscales where 0 represents no function, and 3 represents normal function, and can range from 0 (severely impaired) to 6 (normal). Thus, high scores describe better function and low scores describe poor function.
Some participants did not have follow-up at all time points.
Measured: Baseline to Week 49, Week 97, Week 145, & Week 169
Changes From Baseline in MLV Scale Score
The combined motor-language-vision (MLV) score, as derived from the Hamburg CLN2 rating scale, is determined as the sum of the 0-3 point motor (M), language (L) \& vision (V) subscales where 0 represents no function, and 3 represents normal function, and can range from 0 (severely impaired) to 9 (normal). Thus, high scores describe better function and low scores describe poor function.
Some participants did not have follow-up at all time points.
Measured: Baseline to Week 49, Week 97, Week 145, & Week 169
Changes From Baseline in the 0-12 Point MLVS Motor, Language, Vision, and Seizure Subscales (MLVS) Score.
The combined motor-language-vision-seizure (MLVS) score, as derived from the Hamburg CLN2 rating scale, is determined as the sum of the 0-3 point motor (M) and language (L) vision (V) and seizure (S) subscales where 0 represents no function, and 3 represents normal function, and can range from 0 (severely impaired) to 12 (normal). Thus, high scores describe better function and low scores describe poor function.
Some participants did not have follow-up at all time points.
Measured: Baseline to Week 49, Week 97, Week 145, & Week 169
Percentage Change From Baseline to Last Assessment: Volume of Cerebrospinal Fluid (mL)
Measured: Baseline to Last assessment (Week 169)
Percentage Change From Baseline to Last Assessment: Volume of Total Cortical Gray Matter (mL)
Measured: Baseline to Last assessment (Week 169)
Percentage Change From Baseline to Last Assessment: Volume of Total White Matter (mL)
Measured: Baseline to Last assessment (Week 169)
Change From Baseline to Last Assessment: Whole Brain Apparent Diffusion Coefficient Value
The apparent diffusion coefficient (ADC) represents the calculated diffusion coefficient of water molecules in the direction of the applied gradients measured during diffusion MRI, a technique used to explore the architecture and microstructural properties of both the white and gray matter of the brain.
Measured: Baseline to Last assessment (Week 169)

Timeline

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

22 Jan 201620 Apr 2022

First posted10 Feb 2016 (estimated)
Study start22 Jan 2016
Primary completion20 Apr 2022
Study completion20 Apr 2022

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Other trials for Jansky-Bielschowsky DiseaseStudies of the same condition, open and under way.
More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

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: 14 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT02678689
Sponsor's protocol ID: 190-203
Status last verified: Nov 2024
First submitted: 15 Jan 2016
Last updated: 17 Feb 2025
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes
FDA-regulated drug: Yes
FDA-regulated device: Yes

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

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Clinical and Neuropsychological Investigations in Batten Disease
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1
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A Registrational Study of TTX-381 to Treat Vision Loss in CLN2 Disease
Neuronal Ceroid Lipofuscinosis Type 2
Active, not recruitingObservational study
Cerliponase Alfa Observational Study in the US
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Not yet recruitingPhase 1/2
Gene Therapy Trial for CLN6 Batten Disease
CLN6, Batten Disease
Active, not recruitingPhase 1/2
Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2
Neuronal Ceroid Lipofuscinosis Type 2

All Jansky-Bielschowsky Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 17 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease
ClinicalTrials.gov ID: NCT02678689
Acronym / sponsor ID: 190-203
Conditions: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease, CLN2 Disorder
Phase: Phase 2
Study type: Interventional
Recruitment status: Completed
Enrolment: 14 participants (actual)
Lead sponsor: BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
Study start: 22 Jan 2016 (actual)
Primary completion: 20 Apr 2022 (actual)
Study completion: 20 Apr 2022 (actual)
First posted: 10 Feb 2016 (estimated)
Results: Posted 17 Feb 2025

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Study design

Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Number of arms: 1

Arm	Type	Receives
BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)	Experimental	Biological: BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1), Device: Intracerebroventricular access deviceAn age-appropriate dose of BMN 190 administered via intracerebroventricular (ICV) infusion every other week (qow) for a duration of 144 weeks.

Who may qualify

Ages: Up to 17 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child

Key inclusion criteria (6 listed)

Diagnosis of CLN2 disease as determined by TPP1 enzyme activity (dried blood spot) in the fibroblasts and leukocytes available at Screening
Quantitative clinical assessment of the Hamburg motor-language aggregate score 3-6 at Screening on CLN2 disease motor-language scale, as defined in the Ratings Assessment Guideline
< 18 years of age at the time of informed consent
Written informed consent from parent or legal guardian and assent form subject, if appropriate
Males and females who are of reproductive age should practice true abstinence, defined as no sexual activity, during the study and for 6 months after the study has been completed (or withdrawal from the study). If sexually active and not practicing true abstinence, males and females of reproductive age must use a highly effective method of contraception while participating in the study.

Key exclusion criteria (14 listed)

Presence of another inherited neurological disease, e.g., other forms of CLN or seizures unrelated to CLN2 disease (patients with febrile seizures may be eligible)
Presence of another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, hemorrhage) or interference with disease rating (autism) before Screening
Presence of percutaneous feeding tube placement prior to enrollment
Has received stem cell, gene therapy, or ERT
Presence of contraindications for neurosurgery (e.g., congenital heart disease, severe respiratory impairment, or clotting abnormalities)

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)Also: recombinant human tripeptidyl peptidase-1 (rhTPP1), cerliponase alfa, Brineura®	Biological	BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
Intracerebroventricular access deviceSurgical implantation of an MRI compatible ICV access device in the lateral ventricle of the right hemisphere is required for administration of study drug.	Device	BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)

Primary outcome

Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score.
Time frame: Baseline to Last assessment (Week 169)
Rate of decline in 0 to 6-point ML score, \& primary analysis was based on up to 3-1 matching of Study 190-901 evaluable participants with Study 190-203 ITT participants. Rate of decline =(-1)x(48x7)x(Ending score - Starting score)/(Ending date - Starting date) A positive rate of decline means that subject declined, a negative rate of decline means that subject improved. The combined motor/gait and language (ML) score, as derived from Hamburg CLN2 rating scale, immediately preceding first infusion. The combined ML score is determined as sum of 0-3 point motor(M) \& language(L) subscales where 0 represents no function, \& 3 represents normal function, \& can range from 0(severely impaired) to 6(normal). Thus,high scores describe better function \& low scores describe poor function. The starting assessment is baseline ML assessment \& ending assessment is last ML score >0. Note for Study 190-901, baseline ML assessment is defined as assessment of matching to Study 190-203 subj.
Probability of Unreversed 2-Point Decline in Motor-language (ML) Score or Score of 0
Time frame: Baseline to Last assessment (Week 169)
An unreversed 2-point decline is any decline of 2 points or more that had not reversed to a 1-point decline (or better) at last recorded observation. An unreversed score of 0 is a decline to 0 that had not increased to a score >0 at last recorded observation ML score decline is measured by motor \& language domains on CLN2 rating scale. Combined motor/gait \&language (ML) score, as derived from Hamburg CLN2 rating scale, immediately preceding first infusion. Combined ML score is determined as sum of the 0-3 point motor(M)\&language(L) where 0 represents no function, \& 3 represents normal function, \& can range from 0 (severely impaired) to 6 (normal). Thus, high scores describe better function \& low scores describe poor function Model includes data up to week 169. Estimates from the model are presented for Wks 49, 97 \& 145 No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had unreversed 2-point decline/score of 0 at given time points.
Probability of Decline of Unreversed Motor-language (ML) Score of 0
Time frame: Baseline to Last assessment (Week 169)
The combined motor/gait and language (ML) score, as derived from the Hamburg CLN2 rating scale, immediately preceding the first infusion. The combined ML score is determined as the sum of the 0-3 point motor (M) and language (L) subscales where 0 represents no function, and 3 represents normal function, and can range from 0 (severely impaired) to 6 (normal). Thus, high scores describe better function and low scores describe poor function. Model includes data up to week 169. Estimates from the model are presented for Weeks 49, 97 and 145. No.analyzed is no.of subj out of overall no.of participants analyzed who have not been censored/had unreversed decline/score of 0 at given time points
Rate of Decline in Individual Motor Domains
Time frame: Baseline to Last assessment (Week 169)
Rate of decline = (-1) x (48 x 7) x (Ending score - Starting score)/(Ending date - Starting date). A positive rate of decline means that the subject declined, a negative rate of decline means that the subject improved. The 0-3 point motor (M) subscales, as derived from the Hamburg CLN2 rating scale, where 0 represents no function, and 3 represents normal function. Thus, high scores describe better function, and low scores describe poor function.
Rate of Decline in Individual Language Domains
Time frame: Baseline to Last assessment (Week 169)
Rate of decline = (-1) x (48 x 7) x (Ending score - Starting score)/(Ending date - Starting date). A positive rate of decline means that the subject declined, a negative rate of decline means that the subject improved. The 0-3 point language (L) subscales, as derived from the Hamburg CLN2 rating scale, where 0 represents no function, and 3 represents normal function. Thus, high scores describe better function and low scores describe poor function. Patients with baseline score of 0 are excluded.

9 secondary outcomes

Probability of Decline of Disease Manifestation at Week 49 & 97
Time frame: Baseline to Last assessment (Week 169)
Probability of Decline of Disease Manifestation at Week 145
Time frame: Baseline to Week 145
Change From Baseline in ML Scale Score
Time frame: Baseline to Week 49, Week 97, Week 145, & Week 169
Changes From Baseline in MLV Scale Score
Time frame: Baseline to Week 49, Week 97, Week 145, & Week 169
Changes From Baseline in the 0-12 Point MLVS Motor, Language, Vision, and Seizure Subscales (MLVS) Score.
Time frame: Baseline to Week 49, Week 97, Week 145, & Week 169
Percentage Change From Baseline to Last Assessment: Volume of Cerebrospinal Fluid (mL)
Time frame: Baseline to Last assessment (Week 169)
Percentage Change From Baseline to Last Assessment: Volume of Total Cortical Gray Matter (mL)
Time frame: Baseline to Last assessment (Week 169)
Percentage Change From Baseline to Last Assessment: Volume of Total White Matter (mL)
Time frame: Baseline to Last assessment (Week 169)
Change From Baseline to Last Assessment: Whole Brain Apparent Diffusion Coefficient Value
Time frame: Baseline to Last assessment (Week 169)

Results and safety

Results posted to the registry on 17 Feb 2025, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
BMN 190-203	14	13
Natural History Comparator: 190-901 Participants	29	29

Primary outcome: Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score.

Time frame: Baseline to Last assessment (Week 169). Mean (Standard Deviation). Unit: change in score/48 wk

Measure	BMN 190-203 n = 12	Natural History Comparator: 190-901 Participants n = 29
Value	0.15 (0.243)	1.30 (0.857)

BMN 190-203 vs Natural History Comparator: 190-901 Participants: p < 0.0001, t-test, unequal variance

Population analysed: Matched ITT BMN 190-203: Two subjects in 190-203 ITT population (N=14) were excluded from the 190-203 ITT analysis with matching (N=12) who did not match with any 190-901 subjects on the matching criteria. The matching criteria at baseline were: • Equal ML score • Age within 3 months • Genome: equal number of common alleles (c.622C→T, c.509.1G→C) Matched 190-901 Natural history population: 29 subjects from DEM-CHILD database satisfying the criteria listed in the Arm/Group description.

Primary outcome: Probability of Unreversed 2-Point Decline in Motor-language (ML) Score or Score of 0

Time frame: Baseline to Last assessment (Week 169). Number (95% Confidence Interval). Unit: Probability of decline

Measure	BMN 190-203 n = 12	Natural History Comparator: 190-901 Participants n = 29
Probability of decline: Week 49	0.0 (0.00 to 0.00)	0.141 (0.05 to 0.35)
Probability of decline: Week 97	0.083 (0.01 to 0.46)	0.397 (0.23 to 0.62)
Probability of decline: Week 145	0.167 (0.04 to 0.52)	0.774 (0.59 to 0.92)

BMN 190-203 vs Natural History Comparator: 190-901 Participants: Hazard Ratio (HR): 0.091 (95% CI 0.021 to 0.393), p <.0001, Cox Model Wald Test

Population analysed: Matched ITT BMN 190-203: Two subjects in 190-203 ITT Population(N=14) were excluded from the 190-203 ITT analysis with matching (N=12) who did not match with any 190-901 subjects on the matching criteria. The matching criteria at baseline were: Equal ML score, age within 3 months and genome with equal number of common alleles(c.622C→T, c.509.1G→C). Matched 190-901 Natural history population: 29 subjects from DEM-CHILD database satisfying the criteria listed in the Arm/Group description.

Primary outcome: Probability of Decline of Unreversed Motor-language (ML) Score of 0

Time frame: Baseline to Last assessment (Week 169). Number (95% Confidence Interval). Unit: Probability of decline

Measure	BMN 190-203 n = 12	Natural History Comparator: 190-901 Participants n = 29
Probability of decline: Week 49	0.0 (0.00 to 0.00)	0.03 (0.00 to 0.26)
Probability of decline: Week 97	0.0 (0.00 to 0.00)	0.149 (0.06 to 0.37)
Probability of decline: Week 145	0.0 (0.00 to 0.00)	0.336 (0.18 to 0.57)

BMN 190-203 vs Natural History Comparator: 190-901 Participants: Hazard Ratio (HR): 0.000 (95% CI 0.000 to 0.000), p = 0.0032, Cox Model Wald Test

Population analysed: Matched ITT BMN 190-203: Two subjects in 190-203 ITT Population (N=14) were excluded from the 190-203 ITT analysis with matching (N=12) who did not match with any 190-901 subjects on the matching criteria. The matching criteria at baseline were: Equal ML score, age within 3 months and genome with equal number of common alleles (c.622C→T, c.509.1G→C). Matched 190-901 Natural history population: 29 subjects from DEM-CHILD database satisfying the criteria listed in the Arm/Group description

Primary outcome: Rate of Decline in Individual Motor Domains

Time frame: Baseline to Last assessment (Week 169). Mean (Standard Deviation). Unit: change in score/48 wk

Measure	BMN 190-203 n = 12	Natural History Comparator: 190-901 Participants n = 29
Value	0.05 (0.120)	0.59 (0.496)

BMN 190-203 vs Natural History Comparator: 190-901 Participants: p <.0001, t-test, unequal variance

Population analysed: Matched ITT BMN 190-203: Two subjects in 190-203 ITT Population (N=14) were excluded from the 190-203 ITT analysis with matching (N=12) who did not match with any 190-901 subjects on the matching criteria. The matching criteria at baseline were: Equal ML score, age within 3 months and genome with equal number of common alleles (c.622C→T, c.509.1G→C). Matched 190-901 Natural history population: 29 subjects from DEM-CHILD database satisfying the criteria listed in the Arm/Group description.

9 secondary outcomes are reported in the full results.

Adverse events

Time frame: Up-to Safety Follow-Up (6 months after last dose).. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
BMN 190 Recombinant Human Tripeptidyl Peptidase-1 (rhTPP1)	12 of 14 (85.7%)	14 of 14 (100%)	0 of 14

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2025.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Medical Director, MD study director

BioMarin Pharmaceutical

4 sites in 4 countries: see every site and its status.

Questions about this trial

What is this clinical trial studying?

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 14 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 17 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 4 sites in United States, Germany, Italy, United Kingdom. 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 17 Feb 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?

Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score. (time frame: Baseline to Last assessment (Week 169)). The study lists 5 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 NCT02678689.

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 17 Feb 2025.