NCT00155168

Brief Summary

In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR strategies and applying on detecting the carriers- in- risk and patients with spinal muscular atrophy.This method is, therefore, based on the observation that the amount of PCR product generated from each site of amplification is proportional to the amount of starting template. Detection of PCR products is carried out on DHPLC, which provide the sensitivity required for the detection of the single-copy dosage changes.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
unknown

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

Study Start

First participant enrolled

April 1, 2004

Completed
1.4 years until next milestone

First Submitted

Initial submission to the registry

September 9, 2005

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 12, 2005

Completed
Last Updated

September 12, 2005

Status Verified

April 1, 2004

First QC Date

September 9, 2005

Last Update Submit

September 9, 2005

Conditions

Spinal Muscular Atrophy

Keywords

Spinal muscular atrophy (SMA)SMN1/SMN2 genedenaturing high-performance liquid chromatography (DHPLC)multiplex PCRgene dosecarrier test

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Clinical diagnosis of Spinal muscular atrophy

You may not qualify if:

  • nil

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Dept of Medical Genetics;National Taiwan University Hospital

Taipei, 100, Taiwan

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesMotor Neuron DiseaseNeurodegenerative DiseasesNeuromuscular Diseases

Study Officials

  • Yi-Ning su, MD,PhD

    National Taiwan University Hospital

    STUDY CHAIR

Central Study Contacts

Yi-Ning su, MD,PhD

CONTACT

886-2-23123456ynsu@ntumc.org

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER

Study Record Dates

First Submitted

September 9, 2005

First Posted

September 12, 2005

Study Start

April 1, 2004

Last Updated

September 12, 2005

Record last verified: 2004-04

Locations

TW(1)