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Longitudinal Studies of the Glycoproteinoses

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Greenwood Genetic Center
Sponsor:
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
  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:


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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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)
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.
  Eligibility

Genders Eligible for Study:   Both
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

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
Health Authority: United States: Institutional Review Board

Keywords provided by Greenwood Genetic Center:
Lysosomal Storage Disease
Schindler disease
Glycoprotein 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
sialidosis

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Alpha-Mannosidosis
Aspartylglucosaminuria
Beta-Mannosidosis
Fucosidosis
Mannosidase Deficiency Diseases
Mucolipidoses
Neuroaxonal Dystrophies
Bone Diseases
Bone Diseases, Metabolic
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Musculoskeletal Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on November 27, 2014