Protocol Number: 06-N-0224

Title:

Collection of Blood Samples for DNA Analysis in Motor Neuron Diseases

Number:

06-N-0224

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.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): Children

Eligibility Criteria:

PRIMARY LATERAL SCLEROSIS INCLUSION CRITERIA:

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.

AMYOTROPHIC LATERAL SCLEROSIS INCLUSION CRITERIA:

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.

- Definite ALS: Upper and Lower motor neuron signs are present in more than three regions.

EXCLUSION CRITERIA:

None

Special Instructions:

Currently Not Provided

Keywords:

Amyotrophic Lateral Sclerosis

Primary Lateral Sclerosis

Genetics

Blood Sample

Recruitment Keyword(s):

Primary Lateral Sclerosis

PLS

Amyotrophic Lateral Sclerosis

ALS

Condition(s):

Motor Neuron Diseases

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Neurological Disorders and Stroke

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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.

Brooks BR, Miller RG, Swash M, Munsat TL; 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.

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.

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