Longitudinal Studies of the Glycoproteinoses

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Longitudinal Studies of the Glycoproteinoses

Conditions
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Schindler Disease, Sialidosis, Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II, Mucolipidosis III

Intervention / Treatment
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* Other: Non-interventional.


Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Non-interventional.|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in Disease Characteristics Over Time | 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). | Baseline, Year 1, Year 2, Year 3, Year 4 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of Genotype-Phenotype Correlation | Molecular and biochemical tests will be performed at subjects' baseline visits to confirm disease identity, and to identify genotype-phenotype correlations. | Baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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sialidosis, Glycoprotein Storage Disease, Lysosomal Storage Disease, mannosidase deficiency disorders, Neuraminidase deficiency with beta-galactosidase deficiency, mucolipidoses, Oligosaccharidoses, Lysosomal Disease, Metabolic Disease, Inborn, aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha mannosidosis, beta mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease