NCT00362362

Brief Summary

This study will collect blood samples from patients with primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) to be used for research on genetic causes of motor neuron diseases and other neurological disorders. Patients 18 years of age and older with PLS or ALS may be eligible for this study. Candidates are screened with a medical history, physical examination and diagnostic tests. Participants provide a blood sample. The sample, along with masked (anonymous) medical and family history information are sent to the NINDS Respository at the Coriell Cell Repositories in Camden, NJ. This facility collects, stores and distributes medical research information and cell cultures and DNA samples to researchers at hospitals, universities and commercial organizations. The blood sample has an identification number that is unrelated to any identifying information for the patient and cannot be tracked back to the patient.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
23

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Aug 2006

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 7, 2006

Completed
2 days until next milestone

First Submitted

Initial submission to the registry

August 9, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 10, 2006

Completed
7.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

September 9, 2013

Completed
Last Updated

October 6, 2017

Status Verified

September 9, 2013

First QC Date

August 9, 2006

Last Update Submit

October 5, 2017

Conditions

Motor Neuron Diseases

Keywords

Amyotrophic Lateral SclerosisPrimary Lateral SclerosisGeneticsBlood SamplePLSALS

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Patients with PLS, aged 18 and older, must meet the diagnostic criteria proposed by Pringle (1992), incorporating Santa Clara (2004) consensus for pure PLS.
  • Clinical:
  • Insidious onset in adulthood, progressive course
  • No family history
  • Disease duration greater than 3 years without lower motor neuron clinical signs
  • Clinical signs restricted to corticospinal/corticobulbar tract dysfunction
  • Imaging:
  • Brain MRI normal (except cortical atrophy)
  • Normal cervical spine
  • Negative chest X-ray, negative mammograms in women
  • EMG after 3 years, but within last 3 years, showing no active denervation.
  • Normal serological studies for serum chemistry, Vitamin B12, Vitamin E levels, very long-chain fatty acids.
  • Negative serology for syphilis, Lyme disease, HTLV 1 and 2.
  • Patients with ALS, aged 18 and older, must fulfill the revised El Escorial criteria for probable or definite ALS.
  • Probable ALS: Upper and Lower motor neuron signs are present in more than two regions, but some UMN signs must be rostral to LMN signs.
  • +1 more criteria

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain. 1992 Apr;115 ( Pt 2):495-520. doi: 10.1093/brain/115.2.495.

    PMID: 1606479BACKGROUND

  • Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. doi: 10.1080/146608200300079536. No abstract available.

    PMID: 11464847BACKGROUND

  • Younger DS, Chou S, Hays AP, Lange DJ, Emerson R, Brin M, Thompson H Jr, Rowland LP. Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol. 1988 Dec;45(12):1304-7. doi: 10.1001/archneur.1988.00520360022005.

    PMID: 3196189BACKGROUND

MeSH Terms

Conditions

Motor Neuron DiseaseAmyotrophic Lateral Sclerosis

Condition Hierarchy (Ancestors)

Neurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesSpinal Cord DiseasesCentral Nervous System DiseasesTDP-43 ProteinopathiesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Mary Kay Floeter, M.D.

    National Institute of Neurological Disorders and Stroke (NINDS)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

August 9, 2006

First Posted

August 10, 2006

Study Start

August 7, 2006

Study Completion

September 9, 2013

Last Updated

October 6, 2017

Record last verified: 2013-09-09

Locations

US(1)