Longitudinal Studies of the Glycoproteinoses

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.

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Key information

Conditions

Aspartylglucosaminuria Alpha Mannosidosis Beta Mannosidosis Bone Diseases Bone Diseases, Metabolic Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fucosidosis Galactosialidosis Genetic Diseases, Inborn Glycoprotein Storage Disease Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Mannosidase Deficiency Diseases Metabolic Diseases Metabolism, Inborn Errors Mucolipidoses Mucolipidosis II Mucolipidosis III Musculoskeletal Diseases Nervous System Diseases Neuraminidase deficiency with beta-galactosidase deficiency Nutritional and Metabolic Diseases Schindler Disease Schindler Disease, Type I Sialidosis alpha-Mannosidosis beta-Mannosidosis

Sex eligibility

All sexes

Study type

Observational

Primary location

Greenwood Genetic Center

North Charleston, South Carolina, 29418, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Non-interventional.

Other

Primary outcomes

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 outcomes

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.

Sponsors and collaborators

Lead sponsor

Greenwood Genetic Center

Other

Registry information

Important dates

Study start: 2009
Primary completion: 2020
Study completion: 2020
First posted: Jul 3, 2013
Registry last updated: Sep 13, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed