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OpenTrials
Completed

NCT Number: NCT01910168

A Study to Collect Blood Samples From Patients With Spinal Muscular Atrophy for Biomarker Analysis

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.

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Key information

Sex eligibility

All sexes

Study type

Observational

Primary location

Kalamazoo, Michigan, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. SMN1/SMN2 detection in blood by mRNA assay

    Time frame: 1 day

Secondary outcomes

  1. SMN protein level in blood/lymphocytes

    Time frame: 1 day

Sponsors and collaborators

Lead sponsor

Hoffmann-La Roche

Industry

Collaborators

  • PTC Therapeutics

Registry information

Official study title

A Single Center Study to Collect Samples From SMA Patients for Biomarker Analysis

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Jul 29, 2013
Registry last updated
Nov 2, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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