Longitudinal Studies of the Glycoproteinoses

Fucosidosis Clinical Trial

Official title:

Longitudinal Studies of the Glycoproteinoses

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01891422
• Other study ID #: GGC75
• Status: Completed
• Start date: August 2009
• Est. completion date: July 2020

Study information

• Verified date: September 2023
• Source: Greenwood Genetic Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: July 2020
• Est. primary completion date: July 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Alpha Mannosidosis
• alpha-Mannosidosis
• Aspartylglucosaminuria
• Beta Mannosidosis
• Fucosidosis
• Galactosialidosis
• Mucolipidosis II
• Mucolipidosis III
• Schindler Disease
• Sialidosis

Intervention

Other:
• Non-interventional.

Locations

Country	Name	City	State
United States	Greenwood Genetic Center	North Charleston	South Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Greenwood Genetic Center

Country where clinical trial is conducted

United States, 

References & Publications (3)

Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16. — View Citation

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. — View Citation

Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III alpha/beta: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.5858/2010-0236-CR.1. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Disease Characteristics Over Time	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	Identification of Genotype-Phenotype Correlation	Molecular and biochemical tests will be performed at subjects' baseline visits to confirm disease identity, and to identify genotype-phenotype correlations.	Baseline

External Links

•   Greenwood Genetic Center