Lysosomal Storage DisordersNCT02000310
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
An observational study of Lysosomal Storage Disorders, run by O & O Alpan LLC at 1 site in United States.
Trial summary
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditions known as lysosomal storage diseases (LSD). 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
- How many people
- 80 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2013to Dec 2022
- 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: Patients or suspected carriers of a lysosomal storage disorders.
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
- Signed Informed Consent/Assent
- Subject is able and willing to comply with study protocol requirements.
- From clinical or blood laboratory findings subject has evidence of a lysosomal storage disease or a family member of a patient with lysosomal storage disease
Who cannot join
- Pregnant woman
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Lysosomal and Rare Disorders Research and Treatment Center, Inc (LDRTC)
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, M.D., 571-308-1900, ogoker-alpan@ldrtc.org
Renuka Limgala, PhD, 703-261-6220, rlimgala@ldrtc.org
About this study
Official title: Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditions known as lysosomal storage diseases (LSD). LSDs are caused by inherited genetic mutations and there are over 40 genetically distinct lysosomal storage diseases. Within each specific lysosomal storage disease there are variances in severity of disease, age of onset, and clinical presentation. Though the genetic mutations contributing to the disease have been largely clarified, the molecular and cellular mechanisms that contribute to variations in each distinct LSD remain unclear. With this study we intend to better understand at the cellular and molecular level how the accumulation and storage of metabolic wastes in the lysosome affect the clinical manifestation of LSDs, to detect changes in these mechanisms upon treatment administration, and to correlate these results to genetic information. The knowledge obtained from this research study could lead to better ways to diagnose and treat lysosomal storage diseases.
- Conditions
- Lysosomal Storage Disorders
- Keywords
- 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.
Correlating genetic mutations with clinical signs and symptoms
Genetic information (DNA) will be collected from biological samples (e.g. blood, skin cells) and correlated with clinical signs and symptoms. DNA will be sequenced in order to identify a specific mutation. Fluorescence assay will be performed to measure the enzyme activity of the affected protein. Physical examination will be performed, and supporting test results will be collected for identifying the signs and symptoms of the particular disorder.
Measured: 5 years
Secondary outcomes (1)
Associated Immune Pathophysiology
Blood will be collected for identifying alterations in the innate and adaptive immune system. Flow cytometry will be used to analyze cell surface and intracellular biomarkers on immune cells such as B-cells, T-cells, eosinophils.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2013 (estimated)
- Study startNov 2013
- Primary completionDec 2021 (estimated)
- Study completionDec 2022 (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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- O & O Alpan LLC
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ozlem Goker-Alpan, MD, Principal investigator, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)Renuka Limgala, PhD, Principal investigator, LDRTC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02000310
- Sponsor's protocol ID
- 13-CFCT-07
- Status last verified
- Feb 2021
- First submitted
- 25 Nov 2013
- Last updated
- 23 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
- ClinicalTrials.gov ID
- NCT02000310
- Acronym / sponsor ID
- 13-CFCT-07
- Conditions
- Lysosomal Storage Disorders
- Keywords
- Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- O & O Alpan LLCUniversity, hospital or other
- Study start
- Nov 2013 (actual)
- Primary completion
- Dec 2021 (estimated)
- Study completion
- Dec 2022 (estimated)
- First posted
- 4 Dec 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 lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditions known as lysosomal storage diseases (LSD). LSDs are caused by inherited genetic mutations and there are over 40 genetically distinct lysosomal storage diseases. Within each specific lysosomal storage disease there are variances in severity of disease, age of onset, and clinical presentation. Though the genetic mutations contributing to the disease have been largely clarified, the molecular and cellular mechanisms that contribute to variations in each distinct LSD remain unclear. With this study we intend to better understand at the cellular and molecular level how the accumulation and storage of metabolic wastes in the lysosome affect the clinical manifestation of LSDs, to detect changes in these mechanisms upon treatment administration, and to correlate these results to genetic information. The knowledge obtained from this research study could lead to better ways to diagnose and treat lysosomal storage diseases.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients or suspected carriers of a lysosomal storage disorders.
Key inclusion criteria (4 listed)
- Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age
- Signed Informed Consent/Assent
- Subject is able and willing to comply with study protocol requirements.
- From clinical or blood laboratory findings subject has evidence of a lysosomal storage disease or a family member of a patient with lysosomal storage disease
Key exclusion criteria (1 listed)
- Pregnant woman
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
Correlating genetic mutations with clinical signs and symptoms
Time frame: 5 years
Genetic information (DNA) will be collected from biological samples (e.g. blood, skin cells) and correlated with clinical signs and symptoms. DNA will be sequenced in order to identify a specific mutation. Fluorescence assay will be performed to measure the enzyme activity of the affected protein. Physical examination will be performed, and supporting test results will be collected for identifying the signs and symptoms of the particular disorder.
1 secondary outcome
Associated Immune Pathophysiology
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Feb 2021.
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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.
Ozlem Goker-Alpan, MD principal investigator
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
Renuka Limgala, PhD principal investigator
LDRTC
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, 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 4 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: status not confirmed, as of the sponsor's last update on 23 Feb 2021. 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, MD (571-308-1904, ogoker-alpan@ldrtc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlating genetic mutations with clinical signs and symptoms (time frame: 5 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 23 Feb 2021.