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Clinical Trial of Growth Hormone in MPS I, II, and VI

This study has been terminated.
(Insufficient recruitment.)
Information provided by (Responsible Party):
Los Angeles Biomedical Research Institute Identifier:
First received: September 8, 2008
Last updated: November 19, 2014
Last verified: November 2014
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.

Condition Intervention Phase
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis VI
Drug: Somatropin (DNA origin)
Phase 2
Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature

Resource links provided by NLM:

Further study details as provided by Los Angeles Biomedical Research Institute:

Primary Outcome Measures:
  • Change in Growth Velocity From Baseline to End of Study Year 1. [ Time Frame: 12 months ]

Secondary Outcome Measures:
  • Safety of Nutropin AQ® in Children With MPS I, II, and VI. Safety Endpoints Are: • Physical Examinations • Fundoscopic Examinations • Adverse Events • Radiographic Examinations of Spine and Lower Extremities [ Time Frame: 1 months ]
    Three days after starting treatment with Nutropin AQ the subjects mother reported that the study subject developed headache, increased "noisy and more labored" breathing (history of obstructive sleep apnea treated with BIPAP), and fatigue with watery eyes. Symptoms resolved with discontinuation of Nutropin AQ and before evaluation by physician. Subject withdrew from the study due to these adverse effects.

  • Change in Bone Mineral Density, Content, and Strength by DXA and pQCT, and Change in Serum Markers of Bone Metabolism. [ Time Frame: 12 months ]
  • Change in Mobility Measured by Force and Gait Measurements. [ Time Frame: 12 months ]
  • Change in Muscle Strength Measured by Biodex and Hand Grip Dynamometer. [ Time Frame: 12 months ]
  • Change in Neuropsychological Functioning and Brain Volumetrics. [ Time Frame: 12 months ]

Enrollment: 2
Study Start Date: November 2008
Study Completion Date: September 2013
Primary Completion Date: September 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Growth hormone treatmen
Growth hormone treatment arm. Somatropin (DNA origin)
Drug: Somatropin (DNA origin)
The study starting dose of Nutropin AQ® will be 0.48 mg/kg/week divided into daily SC injections. Nutropin AQ® will be administered by either the subject or, if unable to demonstrate competency in this, then by the guardian. To decrease the risk of increased intracranial hypertension, the dose in the first month of treatment will be decreased by 50% (0.24 mg/kg/week), and then increased to 0.48 mg/kg/week if tolerated well after 1 month.
Other Name: Nutropin AQ
No Intervention: No growth hormone treatment in year 1
No growth hormone treatment in year 1; option for treatment in year 2 open-label period.

Detailed Description:

Although children with MPS I, II, and VI who are treated with Hematopoietic Cell Transplantation (HCT) and/or enzyme replacement therapy (ERT) are living into adulthood with good cognitive development, their quality of life is significantly impacted by their skeletal abnormalities (i.e., kyphosis, scoliosis, and genu valgum), contractures, and severe short stature. Here at the University of Minnesota we have seen some promising clinical outcomes in children with MPS IH whom we have treated with human growth hormone (hGH). There are currently no reports in the literature of the impact of treating children with MPS and short stature, with hGH on their growth velocity or characteristic skeletal abnormalities. This study will advance the care of these children by providing data in this yet unexplored area of pediatric medicine with the goal of improving the quality of life for these children by improving height, mobility, and neuropsychological functioning.

This is a Phase II/III randomized, single-center, 12 month clinical trial of growth hormone in male and female participants with MPS I, II, or VI, followed by 12 months open label. Participants with height ≤ -2 SDS for age and gender will be randomized for the first 12 months 1:1 to treatment or no treatment. At the conclusion of the 12 months, all subjects will be offered an additional 12 months of treatment.


Ages Eligible for Study:   5 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • A parent or legally authorized representative must provide written informed consent and comply with study assessments for the full duration of the study.
  • Chronologic age ≥ 5 years and bone age ≤12 years
  • Diagnosis of MPS I, II, or VI
  • Height ≤ -2 SDS for age and gender
  • Ability to travel to study center for evaluations.
  • Ability of the participant to cooperate with study procedures, to notify a guardian of symptoms, and provide assent for participation in the study.

Exclusion Criteria:

  • History of treatment with hGH
  • Untreated pituitary deficiency
  • Pregnancy (positive urine pregnancy test) prior to enrollment in the study
  • Participation in another simultaneous medical intervention trial
  • Patients with closed epiphysis
  • Active neoplasm
  • Orthopedic procedure of the femur within the last 6 months.
  • Known or suspected allergy to trial product or related products.
  • Structural lesion on brain MRI resulting in brain compression
  • 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.
  • Obstructive sleep apnea without BiPAP or tonsillectomy/adenoidectomy treatment.
  • CNS shunt.
  • Abnormal cardiac function based on echocardiogram within 6 months prior to enrollment :
  • Ejection fraction less than 50%
  • Left ventricular chamber size greater than or less than 2 standard deviations of normal for body surface area
  • Left ventricular wall thickness greater than or less than 2 standard deviations of normal for body surface area
  • More than mild to moderate aortic insufficiency with abdominal aortic run-off
  • More than mild to moderate mitral insufficiency with pulmonary hypertension
  • Abnormal pulmonary function based on pulmonary function tests within 6 months prior to enrollment:
  • abnormal FVC < 80% of predicted for age, gender, and height
  • abnormal FEV1 < 80% predicted for age, gender, and height
  • abnormal FEV1/FVC
  • abnormal oxygen saturation
  Contacts and Locations
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Please refer to this study by its identifier: NCT00748969

United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
Los Angeles Biomedical Research Institute
Principal Investigator: Lynda E Polgreen, M.D. University of Minnesota - Clinical and Translational Science Institute
  More Information

Responsible Party: Los Angeles Biomedical Research Institute Identifier: NCT00748969     History of Changes
Other Study ID Numbers: 0808M43681
Study First Received: September 8, 2008
Results First Received: October 30, 2014
Last Updated: November 19, 2014

Keywords provided by Los Angeles Biomedical Research Institute:
growth hormone
short stature

Additional relevant MeSH terms:
Mucopolysaccharidosis II
Mucopolysaccharidosis I
Mucopolysaccharidosis VI
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
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
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs processed this record on April 28, 2017