Lysosomal Storage DisordersNCT02120235
Investigating Lysosomal Storage Diseases in Minority Groups
An observational study of Lysosomal Storage Disorders and Gaucher Disease, run by O & O Alpan LLC at 1 site in United States.
Trial summary
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Read more about this study
- Who is it for?
- Ages 1 day to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease
- How many people
- 20,000 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2014to Dec 2018
- 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 1 day to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .
Who may be able to join
- Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age
- Subject is managed by a physician in the Washington, D.C metro area
- Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run
Who cannot join
- Absolute contraindication for blood drawing
- Subject cannot be traced back by the referring physician upon a positive screening result
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
O&O Alpan, LLC
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, M.D., 571-308-1900, ogokeralpan@oandoalpan.com
Shiwei Song, MD, 571-308-1909, ssong@oandoalpan.com
About this study
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease, Niemann-Pick Disease
- Keywords
- Lysosomal storage disorders, LSD, Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease
- Medical subject headings
- Lysosomal Storage Diseases, Gaucher Disease, Fabry Disease, Glycogen Storage Disease Type II, Niemann-Pick Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients identified with lysosomal storage disorders
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Apr 2014 (estimated)
- Study startFeb 2014
- Primary completionFeb 2018 (estimated)
- Study completionDec 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lysosomal Storage DisordersStudies 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
- Other
- Time perspective
- Other
- Enrolment
- 20,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- O & O Alpan LLC
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02120235
- Sponsor's protocol ID
- 14-CFCT-11
- Status last verified
- Apr 2017
- First submitted
- 17 Apr 2014
- Last updated
- 4 Apr 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating Lysosomal Storage Diseases in Minority Groups
- ClinicalTrials.gov ID
- NCT02120235
- Acronym / sponsor ID
- 14-CFCT-11
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease, Niemann-Pick Disease
- Keywords
- Lysosomal storage disorders, LSD, Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20,000 participants (estimated)
- Lead sponsor
- O & O Alpan LLCUniversity, hospital or other
- Study start
- Feb 2014
- Primary completion
- Feb 2018 (estimated)
- Study completion
- Dec 2018 (estimated)
- First posted
- 22 Apr 2014 (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.
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .
Key inclusion criteria (3 listed)
- Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age
- Subject is managed by a physician in the Washington, D.C metro area
- Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run
Key exclusion criteria (2 listed)
- Absolute contraindication for blood drawing
- Subject cannot be traced back by the referring physician upon a positive screening result
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of patients identified with lysosomal storage disorders
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2017.
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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.
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 Lysosomal Storage Disorders and Gaucher Disease, run by O & O Alpan LLC 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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 4 Apr 2017. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ozlem Goker-Alpan, M.D. (571-308-1900, ogokeralpan@oandoalpan.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients identified with lysosomal storage disorders (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 4 Apr 2017.