A Study to Collect Blood Samples From Patients With Spinal Muscular Atrophy for Biomarker Analysis
A Single Center Study to Collect Samples From SMA Patients for Biomarker Analysis
1 other identifier
observational
36
1 country
2
Brief Summary
In this single center study blood samples for biomarker analysis will be collected from patients with spinal muscular atrophy. Up to 21 mL blood will be drawn from eligible patients at a single visit.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Aug 2013
Shorter than P25 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 25, 2013
CompletedFirst Posted
Study publicly available on registry
July 29, 2013
CompletedStudy Start
First participant enrolled
August 1, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 1, 2014
CompletedStudy Completion
Last participant's last visit for all outcomes
February 1, 2014
CompletedNovember 2, 2016
November 1, 2016
6 months
July 25, 2013
November 1, 2016
Conditions
Outcome Measures
Primary Outcomes (1)
SMN1/SMN2 detection in blood by mRNA assay
1 day
Secondary Outcomes (1)
SMN protein level in blood/lymphocytes
1 day
Study Arms (1)
Cohort
Eligibility Criteria
Patients with spinal muscular atrophy
You may qualify if:
- Self-identified as 5q-autosomal recessive spinal muscular atrophy (SMA) type I, II or III as judged by their neurologist upon diagnosis
- Ability and willingness to provide blood samples
- Willingness (by the patient or patient's parents or legal guardian) to complete to their best ability a questionnaire which requests specific clinical and genetic information
- Able to participate and willing to give written informed consent or assent. Informed consent will be obtained from the patient, or the patient's parent or legal guardian.
You may not qualify if:
- Any known genetic condition other than spinal muscular atrophy, unless it is not interfering with the purpose of this study based on the Sponsor's judgment
- Participation in a clinical trial (except observational studies) within the previous 14 days
- Donation of blood or significant blood loss within three months prior to screening
- Concomitant disease or condition that could interfere with, or treatment of which might interfere with, the conduct of this study, or that would, in the opinion of the investigator, pose an unacceptable risk to the patient in this study
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Hoffmann-La Rochelead
- PTC Therapeuticscollaborator
Study Sites (2)
Unknown Facility
Kalamazoo, Michigan, 49007, United States
Unknown Facility
Salt Lake City, Utah, 84108, United States
Biospecimen
Blood Samples
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Clinical Trials
Hoffmann-La Roche
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 25, 2013
First Posted
July 29, 2013
Study Start
August 1, 2013
Primary Completion
February 1, 2014
Study Completion
February 1, 2014
Last Updated
November 2, 2016
Record last verified: 2016-11