Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
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ClinicalTrials.gov Identifier: NCT03153319 |
Recruitment Status :
Recruiting
First Posted : May 15, 2017
Last Update Posted : August 10, 2022
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Condition or disease | Intervention/treatment | Phase |
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Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis VI | Drug: Adalimumab Injection [Humira] Drug: Saline Solution for Injection | Phase 1 Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 14 participants |
Allocation: | Randomized |
Intervention Model: | Parallel Assignment |
Masking: | Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor) |
Primary Purpose: | Treatment |
Official Title: | Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI |
Actual Study Start Date : | June 5, 2017 |
Estimated Primary Completion Date : | December 2022 |
Estimated Study Completion Date : | February 2023 |

Arm | Intervention/treatment |
---|---|
Experimental: Adalimumab
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.
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Drug: Adalimumab Injection [Humira]
Investigational Drug |
Placebo Comparator: Placebo
Saline placebo comparator
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Drug: Saline Solution for Injection
Placebo Comparator |
Experimental: Open-label adalimumab
Open-label extension of adalimumab dose
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Drug: Adalimumab Injection [Humira]
Investigational Drug |
- 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
- Joint range-of-motion - 16 weeks [ Time Frame: 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.
- Pain - 52 weeks [ Time Frame: 52 weeks ]Mean difference in bodily pain measured by the CHQ-PF50 or the SF-36 at 52 weeks compared to baseline.
- Joint range-of-motion - 52 weeks [ Time Frame: 52 weeks ]Percentage of subjects who achieve a 5 degree or more improvement in joint range-ot-motion at 52 weeks compared to baseline.
- Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability [ Time Frame: 52 weeks ]Percentage of subjects who develop an AE and/or SAE

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Ages Eligible for Study: | 5 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- 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.
Exclusion Criteria:
- 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);
- 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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03153319
Contact: Adolfo Morales | 310-357-9023 | adolfo.morales@lundquist.org | |
Contact: Eva Villa-Lopez | 310-357-9023 | EVilla@lundquist.org |
United States, California | |
The Lundquist Institute at Harbor-UCLA Medical Center | Recruiting |
Torrance, California, United States, 90502 | |
Contact: Adolfo Morales 310-357-9023 adolfo.morales@lundquist.org | |
Contact: Eva Villa-Lopez 310-357-9023 EVilla@lundquist.org | |
Principal Investigator: Lynda Polgreen, MD, MS |
Principal Investigator: | Lynda Polgreen, MD | The Lundquist Institute at Harbor-UCLA Medical Center |
Responsible Party: | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center |
ClinicalTrials.gov Identifier: | NCT03153319 |
Other Study ID Numbers: |
31041-01 |
First Posted: | May 15, 2017 Key Record Dates |
Last Update Posted: | August 10, 2022 |
Last Verified: | November 2021 |
Studies a U.S. FDA-regulated Drug Product: | Yes |
Studies a U.S. FDA-regulated Device Product: | No |
Mucopolysaccharidosis II Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis VI Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases Metabolic Diseases |
Mental Retardation, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Adalimumab Anti-Inflammatory Agents Antirheumatic Agents |