Mucopolysaccharidosis IPhase 1/2NCT03153319

Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

A Phase 1/2 study testing Adalimumab Injection [Humira] and Saline Solution for Injection in people with Mucopolysaccharidosis I and Mucopolysaccharidosis II, run by Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center at 1 site in United States.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record

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Trial summary

Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease in children and adults with mucopolysaccharidosis (MPS) I, II or VI. Read more about this study

Who is it for?: Ages 5 years and older
Conditions the study is for: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
What is being tested?: Adalimumab Injection [Humira] and Saline Solution for Injection
Type of treatment: Injection or infusion
Could I receive a placebo?: Yes, some participants may receive a placebo
How many people: 14 participants
Where: 1 siteUnited States
Study dates: 5 Jun 2017to Feb 2027
Phase: Phase 1/2
Are there results?: Not yet: the study is under way

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 5 years and older
All sexes
No healthy volunteers
Child, Adult, Older adult

Who may be able to join

Male or female ≥5 years of age;
Diagnosis of MPS I, II or VI;
Treatment with ERT for ≥1 year or no treatment with ERT for ≥1 year;
Weight ≥15 kg;
Significant bodily pain reported by the CHQ-PF50 or SF-36 (> 1 SD more severe [below] than the general population mean);
≥ 3 joints with limitations in motion; and Patient or parent/legal guardian is able and willing to provide informed consent. For patients 7 to 17 years of age, assent must also be provided.

Who cannot join

History of HCT less than 2 years prior to enrollment;
Immune suppression therapy less than 1 year prior to enrollment;
Active graft versus host disease;
Current diagnosis or history of lymphoma or other malignancy;
Current active infection;
History of serious opportunistic infection (e.g., bacterial [Legionella and Listeria]; tuberculosis [TB]; invasive fungal infections; or viral, parasitic, and other opportunistic infections);

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Positive TB skin test, positive Quantiferon-TB Gold TB test, positive chest X-ray, or a recent exposure to TB
Congestive heart failure defined by an ejection fracture <50% measured by ECHO;
Demyelinating disorders (e.g., central nervous system [CNS] disorders including multiple sclerosis and optic neuritis and peripheral nervous system disorders including Guillain-Barre syndrome);
Hematologic abnormalities (e.g., pancytopenia, aplastic anemia);
Hepatitis B infection (active or chronic carrier);
Latex sensitivity;
Pregnancy or breastfeeding;
Known or suspected allergy to adalimumab or related products;
Participation in simultaneous therapeutic study that involves an investigational study drug or agent within 4 weeks of study enrollment;
Requirement for live vaccine exposure that would be expected to occur during the time frame of the study; or
Any other social or medical condition that the Investigator believes would pose a significant hazard to the subject if the investigational therapy were initiated or be detrimental to the study.

Trial locations and contacts

1 site in 1 country.

United States1 site

The Lundquist Institute at Harbor-UCLA Medical Center
Torrance, California, 90502

Other trials in United States

About this study

Official title: Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI

Read the detailed description

This study is a randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease in children and adults with mucopolysaccharidosis (MPS) I, II or VI. Children and adults diagnosed with MPS I, II or VI, with significant joint restrictions and pain will be randomized to adalimumab treatment or placebo treatment for the first 16 weeks. This will be followed by a 32-week open label adalimumab treatment phase.

Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Being tested: Adalimumab Injection [Humira], Saline Solution for Injection
Medical subject headings: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI

What participants receive

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

Adalimumab Injection [Humira]Drug
Investigational Drug
Saline Solution for InjectionDrug
Placebo Comparator

Study groups in NCT03153319
Study group	Role	What they receive
Adalimumab	Experimental	20 mg subQ every other week (weight 15to <30 kg) 40 mg subQ every other week (weight ≥30 kg). Non-responders will be escalated to weekly dosing. Receives: Drug: Adalimumab Injection [Humira]
Placebo	Placebo comparator	Saline placebo comparator Receives: Drug: Saline Solution for Injection
Open-label adalimumab	Experimental	Open-label extension of adalimumab dose Receives: Drug: Adalimumab Injection [Humira]

What is being measured

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

Pain - 16 weeks
Mean difference in bodily pain measured by the Children's Health Questionnaire - Parent Form 50 (CHQ-PF50) or the Medical Outcomes Study - Short Form 36 (SF-36) in treatment versus placebo at 16 weeks
Measured: 16 weeks
Adalimumab trough
Percentage of subjects who achieve a goal trough concentration of adalimumab with every other week dosing
Measured: 32 weeks

Secondary outcomes (4)

Joint range-of-motion - 16 weeks
Percentage of subjects who achieve a 5 degree or more improvement in joint range-ot-motion in treatment versus placebo at 16 weeks.
Measured: 16 weeks
Pain - 52 weeks
Mean difference in bodily pain measured by the CHQ-PF50 or the SF-36 at 52 weeks compared to baseline.
Measured: 52 weeks
Joint range-of-motion - 52 weeks
Percentage of subjects who achieve a 5 degree or more improvement in joint range-ot-motion at 52 weeks compared to baseline.
Measured: 52 weeks
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability
Percentage of subjects who develop an AE and/or SAE
Measured: 52 weeks

Timeline

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

5 Jun 2017Feb 2027

First posted15 May 2017
Study start5 Jun 2017
Primary completionJan 2027 (estimated)
Study completionFeb 2027 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Mucopolysaccharidosis IStudies of the same condition, open and under way.
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: Randomised
Intervention model: Parallel groups
Masking: Quadruple blind
Who is masked: Participant, Care provider, Investigator, Outcomes assessor
Enrolment: 14 participants (estimated)

IDs, dates and publications

ClinicalTrials.gov ID: NCT03153319
Sponsor's protocol ID: 31041-01
Status last verified: Jan 2026
First submitted: 11 May 2017
Last updated: 2 Feb 2026
Results posted: No
FDA-regulated drug: Yes
FDA-regulated device: No

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

Active, not recruitingObservational study
Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome

All Mucopolysaccharidosis I trials

Study at a glance

From the registry record, last updated by the sponsor on 2 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI
ClinicalTrials.gov ID: NCT03153319
Acronym / sponsor ID: 31041-01
Conditions: Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Phase: Phase 1/2
Study type: Interventional
Recruitment status: Active, not recruiting
Enrolment: 14 participants (estimated)
Lead sponsor: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical CenterUniversity, hospital or other
Collaborators: McGill University Health Centre/Research Institute of the McGill University Health Centre
Study start: 5 Jun 2017 (actual)
Primary completion: Jan 2027 (estimated)
Study completion: Feb 2027 (estimated)
First posted: 15 May 2017 (actual)
Results: Not posted in the source record

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: Randomised
Intervention model: Parallel groups
Masking: Quadruple blind (participant, care provider, investigator, outcomes assessor)
Number of arms: 3

Arm	Type	Receives
Adalimumab	Experimental	Drug: Adalimumab Injection [Humira]20 mg subQ every other week (weight 15to <30 kg) 40 mg subQ every other week (weight ≥30 kg). Non-responders will be escalated to weekly dosing.
Placebo	Placebo comparator	Drug: Saline Solution for InjectionSaline placebo comparator
Open-label adalimumab	Experimental	Drug: Adalimumab Injection [Humira]Open-label extension of adalimumab dose

Who may qualify

Ages: 5 years and older
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult

Key inclusion criteria (6 listed)

Male or female ≥5 years of age;
Diagnosis of MPS I, II or VI;
Treatment with ERT for ≥1 year or no treatment with ERT for ≥1 year;
Weight ≥15 kg;
Significant bodily pain reported by the CHQ-PF50 or SF-36 (> 1 SD more severe [below] than the general population mean);

Key exclusion criteria (17 listed)

History of HCT less than 2 years prior to enrollment;
Immune suppression therapy less than 1 year prior to enrollment;
Active graft versus host disease;
Current diagnosis or history of lymphoma or other malignancy;
Current active infection;

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
Adalimumab Injection [Humira]Investigational Drug	Drug	Adalimumab, Open-label adalimumab
Saline Solution for InjectionPlacebo Comparator	Drug	Placebo

Primary outcome

Pain - 16 weeks
Time frame: 16 weeks
Mean difference in bodily pain measured by the Children's Health Questionnaire - Parent Form 50 (CHQ-PF50) or the Medical Outcomes Study - Short Form 36 (SF-36) in treatment versus placebo at 16 weeks
Adalimumab trough
Time frame: 32 weeks
Percentage of subjects who achieve a goal trough concentration of adalimumab with every other week dosing

4 secondary outcomes

Joint range-of-motion - 16 weeks
Time frame: 16 weeks
Pain - 52 weeks
Time frame: 52 weeks
Joint range-of-motion - 52 weeks
Time frame: 52 weeks
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability
Time frame: 52 weeks

Results and safety

This study is still under way. Results are not available in the source record yet.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 2 Feb 2026.

Related trials for Mucopolysaccharidosis I

Active, not recruitingObservational study
Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
Hematopoietic Cell Transplantation, Mucopolysaccharidosis Type I
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome

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.

Lynda Polgreen, MD principal investigator

The Lundquist Institute at Harbor-UCLA Medical Center

1 site in 1 country: 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 17 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: under way, not looking for participants, as of the sponsor's last update on 2 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. 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. Some participants in this study may receive a placebo. 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?

This study is still under way. Results are not available in the source record yet.

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?

Pain - 16 weeks (time frame: 16 weeks). 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 NCT03153319.

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 2 Feb 2026.