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

NCT03153319 | Active Not Recruiting Phase 1 FDA Drug

• 1 other identifier: 31041-01
• Study Type: interventional
• Target: 14
• Locations: 1 country
• Sites: 1

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.

Conditions

Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI

Outcome Measures

Primary Outcomes (2)

• 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

  16 weeks

• Adalimumab trough

  Percentage of subjects who achieve a goal trough concentration of adalimumab with every other week dosing

  32 weeks

Secondary Outcomes (4)

• Joint range-of-motion - 16 weeks

  16 weeks

• Pain - 52 weeks

  52 weeks

• Joint range-of-motion - 52 weeks

  52 weeks

• Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability

  52 weeks

Study Arms (3)

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.

Drug: Adalimumab Injection [Humira]

Placebo

PLACEBO COMPARATOR

Saline placebo comparator

Drug: Saline Solution for Injection

Open-label adalimumab

EXPERIMENTAL

Open-label extension of adalimumab dose

Drug: Adalimumab Injection [Humira]

Interventions

Adalimumab Injection [Humira] DRUG

Investigational Drug

Adalimumab; Open-label adalimumab

Saline Solution for Injection DRUG

Placebo Comparator

Placebo

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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;

Sponsors & Collaborators

• Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center: lead
• McGill University Health Centre/Research Institute of the McGill University Health Centre: collaborator

Study Sites (1)

The Lundquist Institute at Harbor-UCLA Medical Center

Torrance, California, 90502, United States

Location

MeSH Terms

Conditions

Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI

Interventions

Adalimumab; Saline Solution; Injections

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

Antibodies, Monoclonal, Humanized; Antibodies, Monoclonal; Antibodies; Immunoglobulins; Immunoproteins; Blood Proteins; Proteins; Amino Acids, Peptides, and Proteins; Serum Globulins; Globulins; Crystalloid Solutions; Isotonic Solutions; Solutions; Pharmaceutical Preparations; Drug Administration Routes; Drug Therapy; Therapeutics

Study Officials

• Lynda Polgreen, MD

  The Lundquist Institute at Harbor-UCLA Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 11, 2017
• First Posted: May 15, 2017
• Study Start: June 5, 2017
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: February 2, 2026

Record last verified: 2026-01

Locations

US (1)