Jansky-Bielschowsky DiseasePhase 1/2NCT02485899

An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease

A Phase 1/2 study testing BMN 190 and Intracerebroventricular (ICV) 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 3 to 16 years
Conditions the study is for: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
What is being tested?: BMN 190 and Intracerebroventricular (ICV) access device
Type of treatment: Injection or infusion, Medical device
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 23 participants
Where: 4 sitesin 4 countries
Study dates: Feb 2015to 10 Dec 2020
Phase: Phase 1/2
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 3 to 16 years
All sexes
No healthy volunteers
Child

Who may be able to join

Must have completed 48 weeks in Study 190-201.
Is willing and able to provide written, signed informed consent. Or, in the case of patients under the age of 18 (or other age as defined by regional law or regulation), provide written assent (if required) and have written informed consent, signed by a legally authorized representative, after the nature of the study has been explained, and prior to performance of research-related procedures.
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.
If female, of childbearing potential, must have a negative pregnancy test at the Screening Visit and be willing to have additional pregnancy tests done during the study.

Who cannot join

Has had a loss of 3 or more points in the combined motor and language components of the Hamburg CLN2 rating scale between Baseline of Study 190-201 and the Study Completion visit in Study 190-201 and would not benefit from enrolling in the study in the Investigator's discretion.
Has a score of 0 points on the combined motor and language components of the Hamburg CLN2 rating scale.
Is pregnant or breastfeeding, at Baseline, or planning to become pregnant (self or partner) at any time during the study.
Has used any investigational product (other than BMN 190 in 190-201), or investigational medical device, within 30 days prior to Baseline; or is required to use any investigational agent prior to completion of all scheduled study assessments.
Has a concurrent disease or condition that would interfere with study participation, or pose a safety risk, as determined by the Investigator.
Has any condition that, in the view of the Investigator, places the patient at high risk of poor treatment compliance or of not completing the study.

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 Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease

The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2. The dose and regimen for this study (190-202) are based on the results of the 190-201 study. The rationale for this phase 2 extension study is to provide patients who complete the 190-201 study with the option to continue BMN 190 treatment. The 190-202 study is an open label extension protocol to assess long-term safety and efficacy.

Read the detailed description

BMN 190 is a recombinant form of human tripeptidyl peptidase 1 (TPP1), the enzyme deficient in patients with CLN2 disease (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. The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2. The dose and regimen for this study (190-202) are based on the results of the 190-201 study. The rationale for this phase 2 extension study is to provide patients who complete the 190-201 study with the option to continue BMN 190 treatment. The 190-202 study is an open label extension protocol to assess long-term safety and efficacy.

Conditions: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease, CLN2 Disorder
Being tested: BMN 190, Intracerebroventricular (ICV) access device
Keywords: Late infantile Neuronal Ceroid Lipofuscinosis Type 2, LINCL, NCL2, CLN2, Jansky-Bielschowsky disease
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 190Biological
Also called recombinant human tripeptidyl peptidase-1 (rhTPP1), cerliponase alfa
300 mg Intracerebroventricular (ICV) infusion administered every other week for up to 240 weeks
Intracerebroventricular (ICV) 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 NCT02485899
Study group	Role	What they receive
BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)	Experimental	All 190-202 study subjects administered BMN 190 300 mg by continuous Intracerebroventricular (ICV) infusion at a rate of 2.5 mL/hour for approximately 4 hours) every 14 days. Receives: Biological: BMN 190; Device: Intracerebroventricular (ICV) access device

What is being measured

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

Probability of Unreversed 2-point Decline in Motor-language (ML) Score or Score of 0
Motor and Language are each 0-3 point subscales in which 3 represents best function and 0 represents loss of function. Thus, the 0-6 point ML score was used as the primary mode of evaluation of loss of function.
In 190-201, the primary endpoint was a responder endpoint: unreversed ML 2-point decline or score of 0 at Week 48 compared to the 50% rate expected in natural history using the 1-sample binomial test. For 190-202, the primary endpoint was revised to assess response over the full duration of follow-up. It is not clear, given the variable follow-up much greater than 48 weeks, what response rate is expected in natural history. For this reason, the assessment of the primary endpoint is based on comparing to natural history data and using the Kaplan-Meier method and Cox proportional hazards model with covariate adjustment (i.e., baseline ML score and age as continuous covariates, and genotype [common alleles] and sex as categorical covariates).
Measured: Up to Week 289
Probability of Unreversed Motor-language (ML) Score of Zero.
Motor and Language are each 0-3 point subscales in which 3 represents best function and 0 represents loss of function. Thus, the 0-6 point ML score was used as the primary mode of evaluation of loss of function.
In 190-201, the primary endpoint was a responder endpoint: unreversed ML 2-point decline or score of 0 at Week 48 compared to the 50% rate expected in natural history using the 1-sample binomial test. For 190-202, the primary endpoint was revised to assess response over the full duration of follow-up. It is not clear, given the variable follow-up much greater than 48 weeks, what response rate is expected in natural history. For this reason, the assessment of the primary endpoint is based on comparing to natural history data and using the Kaplan-Meier method and Cox proportional hazards model with covariate adjustment (baseline ML score, age, genotype [common alleles], and sex).
Measured: Up to Week 289

Secondary outcomes (5)

Whole Brain Volume
Percentage change from Baseline to Last Observation: Whole Brain volume
Measured: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Volume of Cerebrospinal Fluid
Percentage Change from Baseline to last observation: Volume of cerebrospinal fluid
Measured: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Volume of Total Cortical Gray Matter
Percentage Change from Baseline to last observation: Volume of total cortical gray matter
Measured: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Total White Matter Volume
Percentage Change from Baseline to last observation: Total white matter volume
Measured: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Whole Brain Apparent Diffusion Coefficient
Change from Baseline to last observation Whole brain apparent diffusion coefficient
Measured: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation

Timeline

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

Feb 201510 Dec 2020

First posted30 Jun 2015 (estimated)
Study startFeb 2015
Primary completion10 Dec 2020
Study completion10 Dec 2020

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.
Publications (4)Papers the sponsor has linked to this study.
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 1/2
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Model description: Because of practical (limited number of available patients) and ethical (neurosurgery in children with fatal neurologic disease) concerns, this study design could not involve contemporaneous, matched, randomized, blinded, or untreated control subjects. As such, data from the DEM-CHILD Multi-Center Clinical NCL Database at the University Medical Center in Hamburg, Germany (NCT04613089) was used as a control group (i.e., Natural History \[NH\] comparator) to determine the primary efficacy outcome measures for this study. The NH comparator was comprised of subjects from the DEM-CHILD database who satisfied the 190-201 inclusion criterion: Age ≥ 3, and at least one ML score ≥ 3 at age ≥ 3 years and further, who had at least two CLN2 assessments with values within the range 1 - 5 and at least 6 months apart.
Masking: None (open label)
Enrolment: 23 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT02485899
Sponsor's protocol ID: 190-202
Status last verified: Jul 2022
First submitted: 24 Apr 2015
Last updated: 24 Aug 2022
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes
FDA-regulated drug: Yes
FDA-regulated device: Yes

Publications

Specchio N, Gissen P, de Los Reyes E, Olaye A, Camp C, Curteis T, Griffiths A, Butt T, Cohen-Pfeffer J, Slasor P, Sisic Z, Jain M, Schulz A. Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data. PLoS One. 2024 May 22;19(5):e0302382. doi: 10.1371/journal.pone.0302382. eCollection 2024.
PubMed 38776275
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8.
PubMed 38101904
Gissen P, Specchio N, Olaye A, Jain M, Butt T, Ghosh W, Ruban-Fell B, Griffiths A, Camp C, Sisic Z, Schwering C, Wibbeler E, Trivisano M, Lee L, Nickel M, Mortensen A, Schulz A. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2). Orphanet J Rare Dis. 2021 May 12;16(1):217. doi: 10.1186/s13023-021-01829-x.
PubMed 33980287
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
PubMed 29688815

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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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
Active, not recruitingObservational study
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2

All Jansky-Bielschowsky Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 24 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
ClinicalTrials.gov ID: NCT02485899
Acronym / sponsor ID: 190-202
Conditions: Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease, CLN2 Disorder
Keywords: Late infantile Neuronal Ceroid Lipofuscinosis Type 2, LINCL, NCL2, CLN2, Jansky-Bielschowsky disease
Phase: Phase 1/2
Study type: Interventional
Recruitment status: Completed
Enrolment: 23 participants (actual)
Lead sponsor: BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
Study start: Feb 2015 (actual)
Primary completion: 10 Dec 2020 (actual)
Study completion: 10 Dec 2020 (actual)
First posted: 30 Jun 2015 (estimated)
Results: Posted 24 Aug 2022

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
Model description: Because of practical (limited number of available patients) and ethical (neurosurgery in children with fatal neurologic disease) concerns, this study design could not involve contemporaneous, matched, randomized, blinded, or untreated control subjects. As such, data from the DEM-CHILD Multi-Center Clinical NCL Database at the University Medical Center in Hamburg, Germany (NCT04613089) was used as a control group (i.e., Natural History [NH] comparator) to determine the primary efficacy outcome measures for this study. The NH comparator was comprised of subjects from the DEM-CHILD database who satisfied the 190-201 inclusion criterion: Age ≥ 3, and at least one ML score ≥ 3 at age ≥ 3 years and further, who had at least two CLN2 assessments with values within the range 1 - 5 and at least 6 months apart.

Arm	Type	Receives
BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)	Experimental	Biological: BMN 190, Device: Intracerebroventricular (ICV) access deviceAll 190-202 study subjects administered BMN 190 300 mg by continuous Intracerebroventricular (ICV) infusion at a rate of 2.5 mL/hour for approximately 4 hours) every 14 days.

Who may qualify

Ages: 3 to 16 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child

Key inclusion criteria (4 listed)

Must have completed 48 weeks in Study 190-201.
Is willing and able to provide written, signed informed consent. Or, in the case of patients under the age of 18 (or other age as defined by regional law or regulation), provide written assent (if required) and have written informed consent, signed by a legally authorized representative, after the nature of the study has been explained, and prior to performance of research-related procedures.
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.
If female, of childbearing potential, must have a negative pregnancy test at the Screening Visit and be willing to have additional pregnancy tests done during the study.

Key exclusion criteria (6 listed)

Has had a loss of 3 or more points in the combined motor and language components of the Hamburg CLN2 rating scale between Baseline of Study 190-201 and the Study Completion visit in Study 190-201 and would not benefit from enrolling in the study in the Investigator's discretion.
Has a score of 0 points on the combined motor and language components of the Hamburg CLN2 rating scale.
Is pregnant or breastfeeding, at Baseline, or planning to become pregnant (self or partner) at any time during the study.
Has used any investigational product (other than BMN 190 in 190-201), or investigational medical device, within 30 days prior to Baseline; or is required to use any investigational agent prior to completion of all scheduled study assessments.
Has a concurrent disease or condition that would interfere with study participation, or pose a safety risk, as determined by the Investigator.

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 190Also: recombinant human tripeptidyl peptidase-1 (rhTPP1), cerliponase alfa300 mg Intracerebroventricular (ICV) infusion administered every other week for up to 240 weeks	Biological	BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
Intracerebroventricular (ICV) 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	BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1)

Primary outcome

Probability of Unreversed 2-point Decline in Motor-language (ML) Score or Score of 0
Time frame: Up to Week 289
Motor and Language are each 0-3 point subscales in which 3 represents best function and 0 represents loss of function. Thus, the 0-6 point ML score was used as the primary mode of evaluation of loss of function. In 190-201, the primary endpoint was a responder endpoint: unreversed ML 2-point decline or score of 0 at Week 48 compared to the 50% rate expected in natural history using the 1-sample binomial test. For 190-202, the primary endpoint was revised to assess response over the full duration of follow-up. It is not clear, given the variable follow-up much greater than 48 weeks, what response rate is expected in natural history. For this reason, the assessment of the primary endpoint is based on comparing to natural history data and using the Kaplan-Meier method and Cox proportional hazards model with covariate adjustment (i.e., baseline ML score and age as continuous covariates, and genotype [common alleles] and sex as categorical covariates).
Probability of Unreversed Motor-language (ML) Score of Zero.
Time frame: Up to Week 289
Motor and Language are each 0-3 point subscales in which 3 represents best function and 0 represents loss of function. Thus, the 0-6 point ML score was used as the primary mode of evaluation of loss of function. In 190-201, the primary endpoint was a responder endpoint: unreversed ML 2-point decline or score of 0 at Week 48 compared to the 50% rate expected in natural history using the 1-sample binomial test. For 190-202, the primary endpoint was revised to assess response over the full duration of follow-up. It is not clear, given the variable follow-up much greater than 48 weeks, what response rate is expected in natural history. For this reason, the assessment of the primary endpoint is based on comparing to natural history data and using the Kaplan-Meier method and Cox proportional hazards model with covariate adjustment (baseline ML score, age, genotype [common alleles], and sex).

5 secondary outcomes

Whole Brain Volume
Time frame: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Volume of Cerebrospinal Fluid
Time frame: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Volume of Total Cortical Gray Matter
Time frame: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Total White Matter Volume
Time frame: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation
Whole Brain Apparent Diffusion Coefficient
Time frame: Baseline (Week 1 of BMN 190-201) to Week 289 / Last observation

Results and safety

Results posted to the registry on 24 Aug 2022, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
190-202 (300 mg)	24	17
Natural History Comparator	42	42

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

Time frame: Up to Week 289. Number (95% Confidence Interval). Unit: Probability of decline

Measure	BMN 190-202 (300 mg) n = 23	Natural History Comparator n = 42
Probability of decline: Week 49	0.13 (0.04 to 0.35)	0.48 (0.34 to 0.64)
Probability of decline: Week 97	0.22 (0.10 to 0.45)	0.91 (0.79 to 0.98)
Probability of decline: Week 145	0.22 (0.10 to 0.45)	0.97 (0.87 to 1.00)
Probability of decline: Week 193	0.26 (0.13 to 0.50)	0.97 (0.87 to 1.00)
Probability of decline: Week 241	0.40 (0.23 to 0.63)	1.00 (0.87 to 1.00)
Probability of decline: Week 289	0.54 (0.35 to 0.75)	1.00 (0.87 to 1.00)

BMN 190-202 (300 mg) vs Natural History Comparator: Hazard Ratio (HR): 0.14 (95% CI 0.06 to 0.33), p <0.0001, Cox Proportional Hazards model

Population analysed: BMN 190-202: 24 subjects were enrolled in 190-201 at 5 clinic sites worldwide. One subject terminated from 190-201 after a single infusion and is not included in the Intent-to-Treat (ITT) population for 190-202. Study 190-202 final efficacy results include pooled data from the complete dataset from Study 190-201 \& Study 190-202 for all subjects who received \>1 dose (N=23). NH: 42 subjects from DEM-CHILD database satisfying the criteria listed in the Arm/Group description below.

Primary outcome: Probability of Unreversed Motor-language (ML) Score of Zero.

Time frame: Up to Week 289. Number (95% Confidence Interval). Unit: Probability of decline

Measure	BMN 190-201/202 (300 mg) n = 23	Natural History Comparator n = 42
Probability of decline: Week 49	0.00 (0.00 to 0.00)	0.03 (0.00 to 0.16)
Probability of decline: Week 97	0.00 (0.00 to 0.00)	0.38 (0.24 to 0.55)
Probability of decline: Week 145	0.00 (0.00 to 0.00)	0.78 (0.63 to 0.90)
Probability of decline: Week 193	0.05 (0.01 to 0.28)	0.94 (0.82 to 0.99)
Probability of decline: Week 241	0.05 (0.01 to 0.28)	0.97 (0.86 to 1.00)
Probability of decline: Week 289	0.15 (0.05 to 0.39)	1.00 (0.86 to 1.00)

BMN 190-201/202 (300 mg) vs Natural History Comparator: Hazard Ratio (HR): 0.01, p <0.0001, Cox Proportional Hazards model

5 secondary outcomes are reported in the full results.

Adverse events

Time frame: Summaries of safety data were descriptive and designed to be inclusive of all adverse events reported in both the 190-201 and 190-202 studies. For each subject, adverse event (AE) data were collected from ICV access device implantation in Study 190-201, prior to any dose administration, to either 6 months after the last administration of study drug or the early termination visit in Study 190-202.. Other adverse events reported at 5% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
BMN 190-202 (300 mg)	21 of 24 (87.5%)	24 of 24 (100%)	0 of 24

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 24 Aug 2022.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Derived from this study: PubMed 38776275Specchio N, Gissen P, de Los Reyes E, Olaye A, Camp C, Curteis T, Griffiths A, Butt T, Cohen-Pfeffer J, Slasor P, Sisic Z, Jain M, Schulz A. Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data. PLoS One. 2024 May 22;19(5):e0302382. doi: 10.1371/journal.pone.0302382. eCollection 2024.
Derived from this study: PubMed 38101904Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8.
Derived from this study: PubMed 33980287Gissen P, Specchio N, Olaye A, Jain M, Butt T, Ghosh W, Ruban-Fell B, Griffiths A, Camp C, Sisic Z, Schwering C, Wibbeler E, Trivisano M, Lee L, Nickel M, Mortensen A, Schulz A. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2). Orphanet J Rare Dis. 2021 May 12;16(1):217. doi: 10.1186/s13023-021-01829-x.
Derived from this study: PubMed 29688815Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.

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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 Monitor, 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 4 inclusion and 6 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 24 Aug 2022. 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 combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

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 24 Aug 2022). 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?

Probability of Unreversed 2-point Decline in Motor-language (ML) Score or Score of 0 (time frame: Up to Week 289). The study lists 2 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 NCT02485899, which also lists 4 linked publications.

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 24 Aug 2022.