Longitudinal Studies of the Glycoproteinoses

NCT01891422 | Completed

• 1 other identifier: GGC75
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

Keywords

Glycoprotein Storage Disease; Lysosomal Storage Disease; mannosidase deficiency disorders; Neuraminidase deficiency with beta-galactosidase deficiency; mucolipidoses; Oligosaccharidoses; Lysosomal Disease; Metabolic Disease, Inborn; aspartylglucosaminuria; fucosidosis; galactosialidosis; alpha mannosidosis; beta mannosidosis; mucolipidosis II; mucolipidosis III; Schindler disease; sialidosis

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Identification of Genotype-Phenotype Correlation

  Baseline

Interventions

Non-interventional. OTHER

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• not diagnosed with one of the nine glycoproteinoses listed above.

Sponsors & Collaborators

• Greenwood Genetic Center: lead

Study Sites (1)

Greenwood Genetic Center

North Charleston, South Carolina, 29418, United States

Location

Related Publications (3)

• 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.

  PMID: 21466370 BACKGROUND

• 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.

  PMID: 20367762 BACKGROUND

• 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.

  PMID: 19617216 RESULT

Related Links

• Greenwood Genetic Center

Biospecimen

Retention: SAMPLES WITH DNA

When applicable, plasma, white cells, fibroblasts, urine.

MeSH Terms

Conditions

Aspartylglucosaminuria; Fucosidosis; Neuraminidase deficiency with beta-galactosidase deficiency; alpha-Mannosidosis; beta-Mannosidosis; Mucolipidoses; Schindler Disease, Type I; Glycoprotein Storage Disease; Lysosomal Storage Diseases; Metabolic Diseases

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Carbohydrate Metabolism, Inborn Errors; Mannosidase Deficiency Diseases; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Sara Cathey, MD

  Greenwood Genetic Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2013
• First Posted: July 3, 2013
• Study Start: August 1, 2009
• Primary Completion: July 1, 2020
• Study Completion: July 1, 2020
• Last Updated: September 13, 2023

Record last verified: 2023-09

Locations

US (1)