Purpose

OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome.

II. Determine the synthesis and catabolism of DHA from linolenic acid in these patients.

III. Determine the synthesis, absorption, and catabolism of DHA under different dietary conditions in these patients.


Condition
Usher Syndrome
Retinitis Pigmentosa

Genetics Home Reference related topics:   Eye Diseases   Hearing Disorders and Deafness   Retinal Disorders  

MedlinePlus related topics:   Usher Syndrome  

U.S. FDA Resources

Study Type:   Observational
Study Design:   Screening

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment:   100
Study Start Date:   October 1999

Detailed Description:

PROTOCOL OUTLINE: Patients may participate in one or more of the arms of this study.

Arm I (adipose tissue study): Adipose tissue is collected from the buttocks of patients with Usher II retinitis pigmentosa (RP), patients with non-Usher RP, and control subjects. Dietary histories are obtained from all patients and subjects.

Arm II (isotope study): Patients meeting the same criteria as in arm I receive oral D5-labeled linolenic acid and oral D4-labeled linolenic acid that is dissolved in oil and incorporated into foods. Subjects must avoid eating fish and shellfish during the 35 days of the isotope study. Blood samples are collected at 0, 8, 24, and 48 hours, daily on days 3-7, and then on days 10, 18, and 35.

Arm III (flaxseed oil feeding): Patients with all types of RP and control subjects receive flaxseed oil, a form of linolenic acid, for 12 weeks. Subjects may also receive high oleic safflower oil or olive oil as a control fat for 12 weeks. Subjects complete a diet history at the end of each fatty acid supplementation period. All subjects must follow a diet free of seafood and fish oil supplements.

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

Criteria

PROTOCOL ENTRY CRITERIA:

  • Retinitis pigmentosa, including: Usher syndrome (types I and II) Simplex
  • The following inheritance patterns eligible: X-linked recessive; Autosomal dominant; Autosomal recessive
  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004345

Locations
United States, Oregon
Oregon Health Sciences University    
      Portland, Oregon, United States, 97201-3098

Sponsors and Collaborators
National Center for Research Resources (NCRR)
Oregon Health and Science University

Investigators
Study Chair:     William Connor     Oregon Health and Science University    
United States, Oregon
Oregon Health Sciences University    
      Portland, Oregon, United States, 97201-3098
National Center for Research Resources (NCRR)
Oregon Health and Science University
Study Chair:     William Connor     Oregon Health and Science University    
  More Information

Study ID Numbers:   199/11904, OHSU-2650
First Received:   October 18, 1999
Last Updated:   June 23, 2005
ClinicalTrials.gov Identifier:   NCT00004345
Health Authority:   United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
Usher syndrome  
ophthalmologic disorders  
rare disease  
retinitis pigmentosa  

Study placed in the following topic categories:
Retinitis pigmentosa-deafness syndrome
Sensation Disorders
Vision Disorders
Sensorineural hearing loss
Retinitis
Rare Diseases
Retinal Degeneration
Blindness
Hearing Loss, Sensorineural
Usher Syndromes
Ear Diseases
Pigmentary retinopathy
Deafness
Hearing Disorders
Cone rod dystrophy
Retinitis Pigmentosa
Abnormalities, Multiple
Neurologic Manifestations
Eye Diseases, Hereditary
Usher syndrome

Additional relevant MeSH terms:
Abnormalities, Multiple
Signs and Symptoms
Otorhinolaryngologic Diseases
Pathologic Processes
Disease
Genetic Diseases, Inborn
Eye Diseases
Syndrome
Nervous System Diseases
Deaf-Blind Disorders
Congenital Abnormalities

Source: National Library of Medicine (NLM) July 03, 2008