Longitudinal Studies of the Glycoproteinoses
| Status: | Recruiting |
|---|---|
| Conditions: | Metabolic |
| Therapuetic Areas: | Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 8/2/2017 |
| Start Date: | August 2009 |
| End Date: | July 2018 |
| Contact: | Sara Cathey, MD |
| Email: | scathey@ggc.org |
| Phone: | 843-746-1001 |
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.
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.
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.
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.
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.
We found this trial at
1
site
3520 West Montague Avenue
North Charleston, South Carolina 29418
North Charleston, South Carolina 29418
Principal Investigator: Sara Cathey, MD
Phone: 843-746-1001
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