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Longitudinal Studies of the Glycoproteinoses

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01891422
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
Information provided by (Responsible Party):
Greenwood Genetic Center

Brief Summary:
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 or disease
Aspartylglucosaminuria Fucosidosis Galactosialidosis Alpha Mannosidosis Beta Mannosidosis Mucolipidosis II Mucolipidosis III Schindler Disease Sialidosis

Detailed Description:

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.

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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

Primary Outcome Measures :
  1. 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 :
  1. 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.

Information from the National Library of Medicine

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.

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Ages Eligible for Study:   Child, Adult, Older Adult
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.

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.

Information from the National Library of Medicine

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 identifier (NCT number): NCT01891422

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Contact: Sara Cathey, MD 843-746-1001

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United States, South Carolina
Greenwood Genetic Center Recruiting
North Charleston, South Carolina, United States, 29418
Contact: Sara Cathey    843-746-1001   
Contact: Sara Cathey   
Principal Investigator: Sara Cathey, MD         
Sponsors and Collaborators
Greenwood Genetic Center
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Principal Investigator: Sara Cathey, MD Greenwood Genetic Center
Additional Information:
Publications of Results:
Other Publications:
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Responsible Party: Greenwood Genetic Center 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
Keywords provided by Greenwood Genetic Center:
mucolipidosis II
mucolipidosis III
Glycoprotein Storage Disease
Lysosomal Storage Disease
mannosidase deficiency disorders
Neuraminidase deficiency with beta-galactosidase deficiency
Lysosomal Disease
Metabolic Disease, Inborn
alpha mannosidosis
beta mannosidosis
Schindler disease
Additional relevant MeSH terms:
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Mannosidase Deficiency Diseases
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