Clinical trial NCT01891422: Longitudinal Studies of the Glycoproteinoses
Official title: Longitudinal Studies of the Glycoproteinoses
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: Greenwood Genetic Center
Sponsor class: OTHER
First posted: 2013-07-03
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change in Disease Characteristics Over Time
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
Secondary outcomes:
measure: Identification of Genotype-Phenotype Correlation
timeFrame: Baseline
Other outcomes:
Locations:
city: North Charleston
country: United States
facility: Greenwood Genetic Center
state: South Carolina
Study officials:
affiliation: Greenwood Genetic Center
name: Sara Cathey, MD
role: PRINCIPAL_INVESTIGATOR
References:
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.
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.
citation: 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.