Longitudinal Studies of the Glycoproteinoses
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| ClinicalTrials.gov Identifier: NCT01891422 |
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Recruitment Status : Unknown
Verified July 2017 by Greenwood Genetic Center.
Recruitment status was: Recruiting
First Posted : July 3, 2013
Last Update Posted : August 1, 2017
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| Condition or disease |
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| Aspartylglucosaminuria Fucosidosis Galactosialidosis Alpha Mannosidosis Beta Mannosidosis Mucolipidosis II Mucolipidosis III Schindler Disease Sialidosis |
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.
| Study Type : | Observational |
| Estimated Enrollment : | 100 participants |
| Observational Model: | Cohort |
| Time Perspective: | Other |
| Official Title: | Longitudinal Studies of the Glycoproteinoses |
| Study Start Date : | August 2009 |
| Estimated Primary Completion Date : | July 2018 |
| Estimated Study Completion Date : | July 2018 |
- 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
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, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01891422
| Contact: Sara Cathey, MD | 843-746-1001 | scathey@ggc.org |
| United States, South Carolina | |
| Greenwood Genetic Center | Recruiting |
| North Charleston, South Carolina, United States, 29418 | |
| Contact: Sara Cathey 843-746-1001 scathey@ggc.org | |
| Contact: Sara Cathey scathey@ggc.org | |
| Principal Investigator: Sara Cathey, MD | |
| Principal Investigator: | Sara Cathey, MD | Greenwood Genetic Center |
Publications of Results:
Other Publications:
| Responsible Party: | Greenwood Genetic Center |
| ClinicalTrials.gov Identifier: | NCT01891422 |
| Other Study ID Numbers: |
GGC75 |
| First Posted: | July 3, 2013 Key Record Dates |
| Last Update Posted: | August 1, 2017 |
| Last Verified: | July 2017 |
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mucolipidoses mucolipidosis II mucolipidosis III sialidosis Glycoprotein Storage Disease Lysosomal Storage Disease mannosidase deficiency disorders Neuraminidase deficiency with beta-galactosidase deficiency Oligosaccharidoses |
Lysosomal Disease Metabolic Disease, Inborn aspartylglucosaminuria fucosidosis galactosialidosis alpha mannosidosis beta mannosidosis Schindler disease |
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Mucolipidoses Fucosidosis Mannosidase Deficiency Diseases alpha-Mannosidosis 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 |