Longitudinal Studies of the Glycoproteinoses
|Aspartylglucosaminuria Fucosidosis Galactosialidosis Alpha Mannosidosis Beta Mannosidosis Mucolipidosis II Mucolipidosis III Schindler Disease Sialidosis|
|Study Design:||Observational Model: Cohort
Time Perspective: Other
|Official Title:||Longitudinal Studies of the Glycoproteinoses|
- Change in Disease Characteristics Over Time [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ]Specific characteristics will be assessed by history and medical record review, to include: onset of disease presentation (signs and symptoms); age at presentation; timeframe of developmental milestones; milestones for educational achievement and cognitive measures; surgical procedures- when performed and outcomes; growth data over time; and indications for subspecialist care (for example cardiology, orthopedics, neurology).
- Identification of Genotype-Phenotype Correlation [ Time Frame: Baseline ]Molecular and biochemical tests will be performed at subjects' baseline visits to confirm disease identity, and to identify genotype-phenotype correlations.
Biospecimen Retention: Samples With DNA
|Study Start Date:||August 2009|
|Estimated Study Completion Date:||July 2018|
|Estimated Primary Completion Date:||July 2018 (Final data collection date for primary outcome measure)|
This is a longitudinal study of 100 individuals diagnosed with any one of the nine glycoproteinoses. Because of the small number of individuals diagnosed with these diseases, participants will be strongly encouraged to be evaluated in person at a study site, but inability to travel to a study site will not exclude a person from participating. This non-interventional study will also collect medical information about participants through questionnaire, phone interviews, and review of medical records regarding the person's usual medical care, including lab testing and x-rays or other imaging studies.
Participants who are evaluated at the study center will have a physical examination performed by a clinical geneticist and neuropsychological studies administered by the study psychologist. Neuropsychological studies assess intelligence, learning abilities, language skills, and ability to participate in day to day activities of life. Participants seen at the study center will have skeletal x-rays performed to evaluate the impact of the disease on the participant's bones.
Every participant will complete (or have a care provider complete for them)
- A questionnaire about their birth, development, and medical history
- An interview with study personnel (in person or via telephone)
- Follow up interviews on at least an annual basis to update the medical history
Each participant will be asked to
- Give a blood sample
- Give a urine sample
- Some participants may be asked to give a skin biopsy.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01891422
|Contact: Sara Cathey, MDfirstname.lastname@example.org|
|United States, South Carolina|
|Greenwood Genetic Center||Recruiting|
|North Charleston, South Carolina, United States, 29418|
|Contact: Sara Cathey 843-746-1001 email@example.com|
|Contact: Sara Cathey firstname.lastname@example.org|
|Principal Investigator: Sara Cathey, MD|
|Principal Investigator:||Sara Cathey, MD||Greenwood Genetic Center|