A Pilot Study of Biomarkers for Spinal Muscular Atrophy (BforSMA)
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| ClinicalTrials.gov Identifier: NCT00756821 |
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Recruitment Status :
Completed
First Posted : September 22, 2008
Last Update Posted : October 24, 2012
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Sponsor:
New England Research Institutes
Collaborator:
The Spinal Muscular Atrophy Foundation
Information provided by:
New England Research Institutes
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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 |
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| Spinal Muscular Atrophy |
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 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
Genetics Home Reference related topics:
Spinal muscular atrophy
MedlinePlus related topics:
Spinal Muscular Atrophy
| Group/Cohort |
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SMA cohort
Subjects between the ages of 2-12 years diagnosed with SMA Type I, II, or III.
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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.
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Primary Outcome Measures :
- 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 :
- 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 ]
- 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
Information from the National Library of Medicine
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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
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
| United States, Alabama | |
| University of Alabama at Birmingham | |
| Birmingham, Alabama, United States, 35233 | |
| United States, California | |
| Stanford University | |
| Stanford, California, United States, 94305 | |
| United States, Colorado | |
| The Children's Hospital | |
| Aurora, Colorado, United States, 80045 | |
| United States, Iowa | |
| University of Iowa | |
| Iowa City, Iowa, United States, 52242 | |
| United States, Maryland | |
| Johns Hopkins Hospital | |
| Baltimore, Maryland, United States, 21287 | |
| United States, Massachusetts | |
| Children's Hospital Boston | |
| Boston, Massachusetts, United States, 02115 | |
| United States, Michigan | |
| Children's Hospital of Michigan, Detroit | |
| Detroit, Michigan, United States, 48201 | |
| United States, Minnesota | |
| Mayo Clinic Rochester | |
| Rochester, Minnesota, United States, 55905 | |
| United States, Missouri | |
| Washington University Medical School | |
| St. Louis, Missouri, United States, 63110 | |
| United States, New York | |
| Columbia University SMA Clinical Research Center | |
| New York, New York, United States, 10032 | |
| United States, Ohio | |
| Cincinnati Children's Hospital Medical Center | |
| Cincinnati, Ohio, United States, 45229 | |
| The Ohio State University | |
| Columbus, Ohio, United States, 43210 | |
| United States, Pennsylvania | |
| The Children's Hospital of Philadelphia | |
| Philadelphia, Pennsylvania, United States, 19104 | |
| United States, Texas | |
| Children's Medical Center - Dallas | |
| Dallas, Texas, United States, 75207 | |
| United States, Utah | |
| University of Utah | |
| Salt lake City, Utah, United States, 84132 | |
| United States, Wisconsin | |
| University of Wisconsin Hospital and Clinics | |
| Madison, Wisconsin, United States, 53792 | |
| Canada, Ontario | |
| Children's Hospital - London Health Sciences Center | |
| London, Ontario, Canada, N6A 2E3 | |
| The Hospital for Sick Children | |
| Toronto, Ontario, Canada, M5G 1X8 | |
Sponsors and Collaborators
New England Research Institutes
The Spinal Muscular Atrophy Foundation
Investigators
| 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 |
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | The Spinal Muscular Atrophy Foundation |
| ClinicalTrials.gov Identifier: | NCT00756821 History of Changes |
| 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 New England Research Institutes:
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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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Atrophy Muscular Atrophy Muscular Atrophy, Spinal Pathological Conditions, Anatomical Neuromuscular Manifestations Neurologic Manifestations Nervous System Diseases |
Signs and Symptoms Spinal Cord Diseases Central Nervous System Diseases Motor Neuron Disease Neurodegenerative Diseases Neuromuscular Diseases |