Longitudinal Studies of the Glycoproteinoses

September 11, 2023 updated by: Greenwood Genetic Center
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Observational

Enrollment (Actual)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • South Carolina
      • North Charleston, South Carolina, United States, 29418
        • Greenwood Genetic Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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).
Baseline, Year 1, Year 2, Year 3, Year 4

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Greenwood Genetic Center

Investigators

  • Principal Investigator: Sara Cathey, MD, Greenwood Genetic Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2009

Primary Completion (Actual)

July 1, 2020

Study Completion (Actual)

July 1, 2020

Study Registration Dates

First Submitted

May 22, 2013

First Submitted That Met QC Criteria

June 28, 2013

First Posted (Estimated)

July 3, 2013

Study Record Updates

Last Update Posted (Actual)

September 13, 2023

Last Update Submitted That Met QC Criteria

September 11, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GGC75

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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