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

NCT ID: NCT03153319

Last Updated: 2026-02-02

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 14 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2017-06-05
• Study Completion Date: 2027-02-28

Brief 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.

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

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: QUADRUPLE

Study Groups

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.

Group Type: EXPERIMENTAL

Adalimumab Injection [Humira]

Intervention Type: DRUG

Investigational Drug

Placebo

Saline placebo comparator

Group Type: PLACEBO_COMPARATOR

Saline Solution for Injection

Intervention Type: DRUG

Placebo Comparator

Open-label adalimumab

Open-label extension of adalimumab dose

Group Type: EXPERIMENTAL

Adalimumab Injection [Humira]

Intervention Type: DRUG

Investigational Drug

Interventions

Adalimumab Injection [Humira]

Investigational Drug

Intervention Type: DRUG

Saline Solution for Injection

Placebo Comparator

Intervention Type: DRUG

Eligibility Criteria

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.

• Minimum Eligible Age: 5 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

McGill University Health Centre/Research Institute of the McGill University Health Centre

OTHER

Sponsor Role: collaborator

Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Lynda E Polgreen

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Lynda Polgreen, MD

Role: PRINCIPAL_INVESTIGATOR

The Lundquist Institute at Harbor-UCLA Medical Center

Locations

The Lundquist Institute at Harbor-UCLA Medical Center

Torrance, California, United States

Countries

United States

Other Identifiers

31041-01

Identifier Type: -

Identifier Source: org_study_id