AspartylglucosaminuriaNCT01891422
Longitudinal Studies of the Glycoproteinoses
An observational study of Aspartylglucosaminuria and Fucosidosis, run by Greenwood Genetic Center at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Aspartylglucosaminuria, Fucosidosis, Galactosialidosis
- What is being tested?
- Non-interventional.
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2009to Jul 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.
Who may be able to join
- Be an individual of any age diagnosed with one of the following conditions
- Aspartylglucosaminuria
- Fucosidosis
- Galactosialidosis
- alpha mannosidosis
- beta mannosidosis
Show all 10Show fewer
- Mucolipidosis II
- Mucolipidosis III
- Schindler disease
- Sialidosis
Who cannot join
- not diagnosed with one of the nine glycoproteinoses listed above.
Trial locations and contacts
1 site in 1 country.
United States1 site
Greenwood Genetic Center
North Charleston, South Carolina, 29418
About this study
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.
Read the 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.
- Conditions
- Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II
- Being tested
- Non-interventional.
- 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
- Medical subject headings
- Aspartylglucosaminuria, Fucosidosis, Neuraminidase deficiency with beta-galactosidase deficiency, alpha-Mannosidosis, beta-Mannosidosis, Mucolipidoses, Schindler Disease, Type I, Glycoprotein Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non-interventional.Other
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Secondary outcomes (1)
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.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jul 2013 (estimated)
- Study startAug 2009
- Primary completionJul 2020
- Study completionJul 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for AspartylglucosaminuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Greenwood Genetic Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sara Cathey, MD, Principal investigator, Greenwood Genetic Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01891422
- Sponsor's protocol ID
- GGC75
- Status last verified
- Sep 2023
- First submitted
- 22 May 2013
- Last updated
- 13 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 21466370David-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.
PubMed 20367762Cathey 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.
PubMed 19617216
Study at a glance
From the registry record, last updated by the sponsor on 13 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Studies of the Glycoproteinoses
- ClinicalTrials.gov ID
- NCT01891422
- Acronym / sponsor ID
- GGC75
- Conditions
- Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II
- Keywords
- Glycoprotein Storage Disease, Lysosomal Storage Disease, mannosidase deficiency disorders, Neuraminidase deficiency with beta-galactosidase deficiency, mucolipidoses, Oligosaccharidoses, Lysosomal Disease, Metabolic Disease, Inborn
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Greenwood Genetic CenterUniversity, hospital or other
- Study start
- Aug 2009
- Primary completion
- Jul 2020 (actual)
- Study completion
- Jul 2020 (actual)
- First posted
- 3 Jul 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age diagnosed with any of the nine glycoproteinoses will be enrolled.
Key inclusion criteria (10 listed)
- Be an individual of any age diagnosed with one of the following conditions
- Aspartylglucosaminuria
- Fucosidosis
- Galactosialidosis
- alpha mannosidosis
Key exclusion criteria (1 listed)
- not diagnosed with one of the nine glycoproteinoses listed above.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Non-interventional. | Other | – |
Primary outcome
Change in Disease Characteristics Over Time
Time frame: 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).
1 secondary outcome
Identification of Genotype-Phenotype Correlation
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Sep 2023.
- Background: PubMed 21466370Kerr 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.
- Background: PubMed 20367762David-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.
- Results publication: PubMed 19617216Cathey 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.
- Greenwood Genetic CenterLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sara Cathey, MD principal investigator
Greenwood Genetic Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Aspartylglucosaminuria and Fucosidosis, run by Greenwood Genetic Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Disease Characteristics Over Time (time frame: Baseline, Year 1, Year 2, Year 3, Year 4). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01891422, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Sep 2023.