Longitudinal Studies of the Glycoproteinoses

Sponsor

Greenwood Genetic Center (Other)

Overall Status

Unknown status

CT.gov ID

NCT01891422

Collaborator

(none)

100

Enrollment

Location

107

Duration (Months)

0.9

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Aspartylglucosaminuria Fucosidosis Galactosialidosis Alpha Mannosidosis Beta Mannosidosis Mucolipidosis II Mucolipidosis III Schindler Disease Sialidosis

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 Design

Study Type:

Observational

Anticipated Enrollment :

100 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Longitudinal Studies of the Glycoproteinoses

Study Start Date :

Aug 1, 2009

Anticipated Primary Completion Date :

Jul 1, 2018

Anticipated Study Completion Date :

Jul 1, 2018

Outcome Measures

Primary Outcome Measures

Change in Disease Characteristics Over Time [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 Outcome Measures

Identification of Genotype-Phenotype Correlation [Baseline]
Molecular and biochemical tests will be performed at subjects' baseline visits to confirm disease identity, and to identify genotype-phenotype correlations.