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Trial record 1 of 9 for:
"Fucosidosis"
Longitudinal Studies of the Glycoproteinoses
The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2014 by Greenwood Genetic Center.
Recruitment status was: Recruiting
Recruitment status was: Recruiting
Sponsor:
Greenwood Genetic Center
Information provided by (Responsible Party):
Greenwood Genetic Center
ClinicalTrials.gov Identifier:
NCT01891422
First received: May 22, 2013
Last updated: September 9, 2014
Last verified: September 2014
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Purpose
The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define how common the diseases are, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess the supportive therapies currently used, and identify potential treatments. Laboratory tests will evaluate metabolic and genetic defects found in participants' blood and urine samples.
| Condition |
|---|
| Aspartylglucosaminuria Fucosidosis Galactosialidosis Alpha Mannosidosis Beta Mannosidosis Mucolipidosis II Mucolipidosis III Schindler Disease Sialidosis |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort |
| Official Title: | Longitudinal Studies of the Glycoproteinoses |
Resource links provided by NLM:
Genetics Home Reference related topics:
Schindler disease
alpha-mannosidosis
aspartylglucosaminuria
beta-mannosidosis
fucosidosis
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta
mucolipidosis III gamma
sialidosis
Genetic and Rare Diseases Information Center resources:
Alpha-mannosidosis
I Cell Disease
Mucolipidosis III Alpha/beta
Beta-galactosidase-1 Deficiency
Fucosidosis
Aspartylglycosaminuria
Galactosialidosis
Mannosidosis, Beta A, Lysosomal
U.S. FDA Resources
Further study details as provided by Greenwood Genetic Center:
Primary Outcome Measures:
- 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).
Secondary Outcome Measures:
- 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
When applicable, plasma, white cells, fibroblasts, urine.
| Estimated Enrollment: | 100 |
| Study Start Date: | August 2009 |
| Estimated Study Completion Date: | July 2015 |
| Estimated Primary Completion Date: | July 2015 (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.
Eligibility| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.
Criteria
Inclusion Criteria:
Be an individual of any age diagnosed with one of the following conditions
- Aspartylglucosaminuria
- Fucosidosis
- Galactosialidosis
- alpha mannosidosis
- beta mannosidosis
- Mucolipidosis II
- Mucolipidosis III
- Schindler disease
- Sialidosis
Exclusion Criteria:
- not diagnosed with one of the nine glycoproteinoses listed above.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01891422
Please refer to this study by its ClinicalTrials.gov identifier: NCT01891422
Contacts
| Contact: Sami Longnion | 843-746-1001 | slongnion@ggc.org | |
| Contact: Sara Cathey, MD | 843-746-1001 | scathey@ggc.org |
Locations
| United States, South Carolina | |
| Greenwood Genetic Center | Recruiting |
| N. Charleston, South Carolina, United States, 29418 | |
| Contact: Sami Longnion 843-746-1001 slongnion@ggc.org | |
| Principal Investigator: Sara Cathey, MD | |
Sponsors and Collaborators
Greenwood Genetic Center
Investigators
| Principal Investigator: | Sara Cathey, MD | Greenwood Genetic Center |
More Information
Additional Information:
Publications:
| Responsible Party: | Greenwood Genetic Center |
| ClinicalTrials.gov Identifier: | NCT01891422 History of Changes |
| Other Study ID Numbers: |
GGC75 |
| Study First Received: | May 22, 2013 |
| Last Updated: | September 9, 2014 |
Keywords provided by Greenwood Genetic Center:
|
fucosidosis Glycoprotein Storage Disease Lysosomal Storage Disease mannosidase deficiency disorders Neuraminidase deficiency with beta-galactosidase deficiency mucolipidoses Oligosaccharidoses Lysosomal Disease Metabolic Disease, Inborn |
aspartylglucosaminuria galactosialidosis alpha mannosidosis beta mannosidosis mucolipidosis II mucolipidosis III Schindler disease sialidosis |
Additional relevant MeSH terms:
|
Fucosidosis Mannosidase Deficiency Diseases alpha-Mannosidosis Mucolipidoses Aspartylglucosaminuria beta-Mannosidosis Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases |
Metabolic Diseases Bone Diseases, Metabolic Bone Diseases Musculoskeletal Diseases Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
ClinicalTrials.gov processed this record on July 13, 2017