Autoimmunity in Neurologic Complications of Celiac Disease

NCT00692861 | Completed

• 2 other identifiers: 08015308-N-0153
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

Brief Summary

This study, done in collaboration with Cornell University in New York, will explore the potential role of the body s immune response to gluten in ataxia. Celiac disease is an autoimmune disorder that is triggered by the ingestion of wheat gluten and related proteins in genetically susceptible individuals. Some people with celiac disease also develop ataxia, which is a loss of muscle coordination, leading to imbalance. The cause of the associated ataxia is not well understood, but it is suspected to be related to the immune response towards gluten in these patients. Preliminary results indicate that antibodies in people with celiac disease can react with brain proteins, which might have a role in the associated neurologic deficits. The aim of this study is to characterize the immune response in the ataxia that is associated with celiac disease. People 18 years of age and older with 1) ataxia and no celiac disease, 2) ataxia plus celiac disease and 3) matched healthy control subjects will be enrolled at the NIH. People with celiac disease only will be enrolled at Cornell University. All participants have a blood sample drawn for various tests of immune function as well as genetic tests. Healthy volunteers also have a history and physical examination if they have not had one done at NIH in the past year. Some patients may require additional clinical evaluations for clinical or diagnostic reasons.

Conditions

Ataxia

Keywords

Celiac Disease; Ataxia; Adults; Health Volunteer; HV

Outcome Measures

Primary Outcomes (1)

• Antibodies to synapsin I.

Secondary Outcomes (1)

• Antibody characterization and HLA association

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• The patient meets criteria for CD based on the modified ESPGAN criteria
• The patient has ataxia with or without neuropathy based on clinical evaluation
• The patient is free from other neurological and psychiatric deficits
• All other known causes for ataxia have been ruled out through routine clinical evaluations
• The patient is at least 18 years old and is willing to participate in the protocol
• The patient is not taking medications that are commonly known to have immune modulating effects.
• The patient is not on a gluten free diet
• The patient tested negative for serologic markers of CD (i.e. antigliadin, antireticulin, and antiendomysial antibody testing as performed under protocol 93-N-0202)
• The patient has ataxia on routine clinical examination and no other neurological or psychiatric problems
• The patient has a known autosomal dominant ataxia (i.e., SCA, DRPLA, Friedreich s ataxia, and etc).
• They should not have CD and or ataxia based on clinical evaluation and history
• Serologic testing for antigliadin, antireticulin, and antiendomysial antibodies should reveal negative results
• They should be race and age-matched with patients with CD and the ataxia group.
• They should have no neurological or psychiatric conditions based on clinical evaluation and history
• They should not have any rheumatological or autoimmune conditions in them or in their first degree relatives.

You may not qualify if:

• For all groups, if other neurological and psychiatric diagnoses are present, the individual will not qualify to participate in this study.
• Subject is already on a gluten-restricted diet.
• Is taking known immune modulating therapy
• Have other neurological condition (except for neuropathy) or psychiatric condition
• Not willing to have blood drawn
• Is known to have immune dysfunction
• Being pregnant leads to numerous physiological changes. It is unclear if antibody characteristics are influenced by these changes.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

Cornell University

New York, New York, 10021-4872, United States

Location

Related Publications (3)

• Alaedini A, Green PH. Narrative review: celiac disease: understanding a complex autoimmune disorder. Ann Intern Med. 2005 Feb 15;142(4):289-98. doi: 10.7326/0003-4819-142-4-200502150-00011.

  PMID: 15710962 BACKGROUND

• Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003 Feb 10;163(3):286-92. doi: 10.1001/archinte.163.3.286.

  PMID: 12578508 BACKGROUND

• Tommasini A, Not T, Kiren V, Baldas V, Santon D, Trevisiol C, Berti I, Neri E, Gerarduzzi T, Bruno I, Lenhardt A, Zamuner E, Spano A, Crovella S, Martellossi S, Torre G, Sblattero D, Marzari R, Bradbury A, Tamburlini G, Ventura A. Mass screening for coeliac disease using antihuman transglutaminase antibody assay. Arch Dis Child. 2004 Jun;89(6):512-5. doi: 10.1136/adc.2003.029603.

  PMID: 15155392 BACKGROUND

MeSH Terms

Conditions

Ataxia; Celiac Disease

Condition Hierarchy (Ancestors)

Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Malabsorption Syndromes; Intestinal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Mark Hallett, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: June 5, 2008
• First Posted: June 6, 2008
• Study Start: June 2, 2008
• Study Completion: January 3, 2014
• Last Updated: December 16, 2019

Record last verified: 2014-01-03

Locations

US (1)