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.

Population

Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.

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.<br /> The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis,<br /> alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler<br /> disease, and sialidosis. Longitudinal studies of these conditions are needed in order to<br /> better define how common the diseases are, identify clinical features which could contribute<br /> to early diagnoses, detail progression of the diseases, assess the supportive therapies<br /> currently used, and identify potential treatments. Laboratory tests will evaluate metabolic<br /> 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.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.