Longitudinal Studies of the Glycoproteinoses

Brief Title

Longitudinal Studies of the Glycoproteinoses

Official Title

Longitudinal Studies of the Glycoproteinoses

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.

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.

Study Type


Primary Outcome

Change in Disease Characteristics Over Time

Secondary Outcome

 Identification of Genotype-Phenotype Correlation




* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

August 2009

Completion Date

July 2018

Primary Completion Date

July 2018

Eligibility 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.




N/A - N/A

Accepts Healthy Volunteers



Sara Cathey, MD, 843-746-1001, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Greenwood Genetic Center

Study Sponsor

Sara Cathey, MD, Principal Investigator, Greenwood Genetic Center

Verification Date

July 2017