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A Pilot Study of Biomarkers for Spinal Muscular Atrophy (BforSMA)

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ClinicalTrials.gov Identifier: NCT00756821
Recruitment Status : Completed
First Posted : September 22, 2008
Last Update Posted : October 24, 2012
Sponsor:
Collaborator:
The Spinal Muscular Atrophy Foundation
Information provided by:
HealthCore-NERI

Study Description
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Brief Summary:
The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity. From this identification of candidate biomarkers, it is hoped that further investigations, both longitudinal natural history and clinical efficacy studies, will verify a biomarker with the sensitivity and specificity that will allow its eventual use as a validated pharmacodynamic marker or surrogate endpoint. In addition, this effort may elucidate biological pathways that may be potential therapeutic targets.

Condition or disease
Spinal Muscular Atrophy

Detailed Description:

Spinal Muscular Atrophy (SMA) is one of the two most common inherited children's neuromuscular disorders. There currently is no cure and no therapeutics approved to slow progression of the disease. SMA is characterized by a loss of alpha motor neurons in the spinal cord, severe atrophy of proximal muscles and progressive debility and disability due to respiratory, gastrointestinal and functional complications of the disease.

Although SMA is a relatively common orphan disease, recruitment of patients for the number of candidate therapies is expected to become rate-limiting for the development of therapeutics.

STUDY OBJECTIVES

Primary:

  • To identify candidate blood and urine biochemical markers that correlate with disease severity as determined by the Modified Hammersmith Functional Motor Scale across a range of type I, type II and type III children with Spinal Muscular Atrophy (SMA) (1).

Secondary:

  • To determine if there are biomarkers from types I-III SMA patients that correlate with SMA type, age at disease onset, 10-meter Timed Walk Test (ambulatory subjects only), pulmonary function, nutritional assessment, SMN protein level, SMN transcript level or SMN2 copy number.
  • To determine if identified candidate biomarkers are associated with the disease state through comparison of SMA specimens with control volunteer specimens.
  • To determine if there are potential biochemical pathways that may represent targets for therapeutic intervention in SMA.
Study Design
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Study Type : Observational
Actual Enrollment : 130 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: A Pilot Study of Biomarkers for Spinal Muscular Atrophy
Study Start Date : October 2008
Actual Primary Completion Date : March 2009
Actual Study Completion Date : March 2009

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
SMA cohort
Subjects between the ages of 2-12 years diagnosed with SMA Type I, II, or III.
Control cohort
Healthy children between the ages of 2-12 years. These children may be either genetically-related siblings of SMA children (genetically confirmed non-carriers of SMA),or unrelated children.


Outcome Measures
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Primary Outcome Measures :
  1. To identify candidate blood and urine biochemical markers that correlate with disease severity as determined by the Modified Hammersmith Functional Motor Scale across a range of type I, type II and type III children with Spinal Muscular Atrophy (SMA) [ Time Frame: 1 year ]

Secondary Outcome Measures :
  1. To determine if there are biomarkers from types I-III SMA patients that correlate with SMA type, age at disease onset, 10-meter Timed Walk Test, pulmonary function, nutritional assessment, SMN protein level, SMN transcript level or SMN2 copy number. [ Time Frame: 1 year ]
  2. To determine if identified candidate biomarkers are associated with the disease state through comparison of SMA specimens with control volunteer specimens. [ Time Frame: 1 year ]

Biospecimen Retention:   Samples With DNA
Whole blood, plasma, PBMCs, and urine

Eligibility Criteria
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Ages Eligible for Study:   2 Years to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Children's Hospitals Unviersity Hospitals
Criteria

Inclusion Criteria:

  • Age 2 to 12 years, inclusive
  • In good health (other than SMA) in the judgement of the clinical investigator ar the time of assessment

Exclusion Criteria:

  • Systemic or specific-organ illness
  • Any known genetic condition other than SMA requiring pharmaceutical treatment
  • Use of any putative SMN-enhancing medications or treatments in the past 14 days prior to enrollment
  • Use of carnitine, creatine, oral albuterol or riluzole for 14 days prior to enrollment
  • Use of any oral prescription medications for 14 days prior to enrollment (exceptions: anti-reflux medications, constipation or stoll softening medications, stool bulking agents, and inhaled bronchodilator medications)
  • Any illness requiring treatment of antibiotics or anti-inflammatory medication within the past 14 days
  • Any rash requiring treatment within the past 7 days
  • Any severe asthma attack requiring treatment with oral or parenteral steroids within the past 7 days
  • Any fever over 100 degrees Fahrenheit or 38 degree Celsius within the past 7 days
  • Any immunization within the past 7 days
  • Any injury sustained that resulted in a bone fracture or needed stitches within the past 7 days
  • Any surgery within the past 7 days
  • Any receipt of anesthesia within the past 7 days
  • Any Emergency Room visit or hospitalization within the past 7 days
  • Any stomach illness with vomiting within the past 7 days
  • Any migraine headache within the past 7 days
  • Participation in a clinical trial (except observational studies) within the past 7 days
Contacts and Locations
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Information from the National Library of Medicine

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): NCT00756821


Locations
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Sponsors and Collaborators
HealthCore-NERI
The Spinal Muscular Atrophy Foundation
Investigators
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Principal Investigator: Richard Finkel, MD Children's Hospital of Philadelphia
Principal Investigator: Thomas Crawford, MD Johns Hopkins University
Principal Investigator: Petra Kaufmann, MD Columbia University
More Information
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Additional Information:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: The Spinal Muscular Atrophy Foundation
ClinicalTrials.gov Identifier: NCT00756821    
Other Study ID Numbers: BforSMA
First Posted: September 22, 2008    Key Record Dates
Last Update Posted: October 24, 2012
Last Verified: October 2012
Keywords provided by HealthCore-NERI:
Spinal Muscular Atrophy
Blood Biomarkers
Urine Biomarkers
Type I Spinal Muscular Atrophy
Type II Spinal Muscular Atrophy
 Type III Spinal Muscular Atrophy
Modified Hammersmith Functional Motor Scale
Disease severity
Biomarkers
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
 Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases