GaucherMRS in GaucherNCT01397435
MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population
An observational study of Gaucher, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial summary
The bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will impact an affected person's life. Read more about this study
- Who is it for?
- Ages 5 to 20 yearsHealthy volunteers can take part
- Conditions the study is for
- Gaucher
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2011to Dec 2014
- 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 5 to 20 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: We will enroll patients with a Diagnosis of Gaucher disease. Subjects will be between 5 and 20 years of age. We will recruit an equal number of age and gender matched healthy volunteers.
Who may be able to join
- Confirmed diagnosis of Gaucher disease / age and gender match control
- Children aged 5-20 yrs
- Parental consent
- Child assent if appropriate
Who cannot join
- Presence of medical illness or exposure to drugs that alter the appearance of bone marrow on MRI
- Contraindication for MRI
- Likelihood for claustrophobia
- Non cooperative patient
- Pregnancy
Trial locations and contacts
1 site in 1 country.
United States1 site
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: Quantification of Bone Marrow Involvement in Gaucher Disease With Proton MR Spectroscopy, Correlation With Bone Marrow Burden Score, Genotype and Disease Severity Score for Pediatric Patients
The bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will impact an affected person's life. Currently, there are qualitative (subjective) methods, such as Magnetic resonance Imaging (MRI), to gauge the response to treatment. A quantitative (objective) measurement of Gaucher cell presence and activity in bone marrow could help with more precise and accurate monitoring of bone marrow disease in patients both treated and not (yet) being treated with enzyme replacement. The investigators will evaluate the efficacy of Magnetic Resonance Spectroscopy (MRS) as a quantitative assessment of bone marrow involvement in Children with Gaucher, and examine how this result correlates with semiquantitative MRI scales and overall disease severity.
Read the detailed description
To quantify the amount of fat in the bone marrow of affected subjects and healthy controls the investigators will use Single voxel short, echo time(TE) proton spectroscopy. This MR Spectroscopy (MRS) will be conducted in the vertebral body of L5 and in the neck of the femur.
To assess the qualitative scores and compare it to the quantitative MR Spectroscopy (MRS) results the investigators will use a series of Fluid sensitive and Fat sensitive conventional MR sequences that will allows us to determine indirectly the degree of glucocerebrosidase infiltration.
- Conditions
- Gaucher
- Keywords
- Lysosomal diseases, Magnetic resonance Spectroscopy, MRI
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Gaucher | We will enroll 15 children who have a confirmed diagnosis of Gaucher disease. | |
| Healthy volunteers | We will enroll 15 age and gender matched controls. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls.
We will measure the fat fraction only once, at the time of recruitment. We will compare the fat fraction of an affected subject to that of an age matched control. We will determine if significant difference exist.
Measured: within 5 minutes
Secondary outcomes (1)
Difference in the semiquantitative MRI scores between affected subjects and controls
We will compare the ordinal data obtained from applying two semiquantitative severity scores: Bone marrow burden (BMB) and Spanish MRI (S-MRI).
Measured: within 5 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2011 (estimated)
- Study startJul 2011
- Primary completionDec 2013
- Study completionDec 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for GaucherStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 24 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
- Investigators
- Diego Jaramillo, MD, MPH, Principal investigator, Children's Hospital of PhiladelphiaPaige Kaplan, MBBCh, Study chair, Children's Hospital of PhiladelphiaMaria A Bedoya, MD, Study director, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01397435
- Sponsor's protocol ID
- 11-008013
- Acronym
- MRS in Gaucher
- Status last verified
- Feb 2015
- First submitted
- 13 Jun 2011
- Last updated
- 4 Feb 2015
- Results posted
- No
- Data monitoring committee
- No
Publications
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006 Jun;160(6):603-8. doi: 10.1001/archpedi.160.6.603.
PubMed 16754822Maas M, van Kuijk C, Stoker J, Hollak CE, Akkerman EM, Aerts JF, den Heeten GJ. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 2003 Nov;229(2):554-61. doi: 10.1148/radiol.2292020296. Epub 2003 Oct 2.
PubMed 14526090Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000 Oct 9;160(18):2835-43. doi: 10.1001/archinte.160.18.2835.
PubMed 11025794Roca M, Mota J, Alfonso P, Pocovi M, Giraldo P. S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 2007 Apr;62(1):132-7. doi: 10.1016/j.ejrad.2006.11.024. Epub 2006 Dec 11.
PubMed 17161930Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.
PubMed 20027115Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee J, Steinbach L. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8. doi: 10.1007/s00256-007-0425-0. No abstract available.
PubMed 18094966Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel E, Vellodi A. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004 Feb;163(2):67-75. doi: 10.1007/s00431-003-1363-z. Epub 2003 Dec 16.
PubMed 14677062
Study at a glance
From the registry record, last updated by the sponsor on 4 Feb 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quantification of Bone Marrow Involvement in Gaucher Disease With Proton MR Spectroscopy, Correlation With Bone Marrow Burden Score, Genotype and Disease Severity Score for Pediatric Patients
- ClinicalTrials.gov ID
- NCT01397435
- Acronym / sponsor ID
- MRS in Gaucher / 11-008013
- Conditions
- Gaucher
- Keywords
- Lysosomal diseases, Magnetic resonance Spectroscopy, MRI
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 24 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- Jul 2011
- Primary completion
- Dec 2013 (actual)
- Study completion
- Dec 2014 (actual)
- First posted
- 19 Jul 2011 (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 bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will impact an affected person's life. Currently, there are qualitative (subjective) methods, such as Magnetic resonance Imaging (MRI), to gauge the response to treatment. A quantitative (objective) measurement of Gaucher cell presence and activity in bone marrow could help with more precise and accurate monitoring of bone marrow disease in patients both treated and not (yet) being treated with enzyme replacement. The investigators will evaluate the efficacy of Magnetic Resonance Spectroscopy (MRS) as a quantitative assessment of bone marrow involvement in Children with Gaucher, and examine how this result correlates with semiquantitative MRI scales and overall disease severity.
Detailed description
To quantify the amount of fat in the bone marrow of affected subjects and healthy controls the investigators will use Single voxel short, echo time(TE) proton spectroscopy. This MR Spectroscopy (MRS) will be conducted in the vertebral body of L5 and in the neck of the femur.
To assess the qualitative scores and compare it to the quantitative MR Spectroscopy (MRS) results the investigators will use a series of Fluid sensitive and Fat sensitive conventional MR sequences that will allows us to determine indirectly the degree of glucocerebrosidase infiltration.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Gaucher | – | –We will enroll 15 children who have a confirmed diagnosis of Gaucher disease. |
| Healthy volunteers | – | –We will enroll 15 age and gender matched controls. |
Who may qualify
- Ages
- 5 to 20 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- We will enroll patients with a Diagnosis of Gaucher disease. Subjects will be between 5 and 20 years of age. We will recruit an equal number of age and gender matched healthy volunteers.
Key inclusion criteria (4 listed)
- Confirmed diagnosis of Gaucher disease / age and gender match control
- Children aged 5-20 yrs
- Parental consent
- Child assent if appropriate
Key exclusion criteria (5 listed)
- Presence of medical illness or exposure to drugs that alter the appearance of bone marrow on MRI
- Contraindication for MRI
- Likelihood for claustrophobia
- Non cooperative patient
- Pregnancy
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
Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls.
Time frame: within 5 minutes
We will measure the fat fraction only once, at the time of recruitment. We will compare the fat fraction of an affected subject to that of an age matched control. We will determine if significant difference exist.
1 secondary outcome
Difference in the semiquantitative MRI scores between affected subjects and controls
Time frame: within 5 minutes
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 4 Feb 2015.
- Background: PubMed 16754822Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006 Jun;160(6):603-8. doi: 10.1001/archpedi.160.6.603.
- Background: PubMed 14526090Maas M, van Kuijk C, Stoker J, Hollak CE, Akkerman EM, Aerts JF, den Heeten GJ. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 2003 Nov;229(2):554-61. doi: 10.1148/radiol.2292020296. Epub 2003 Oct 2.
- Background: PubMed 11025794Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000 Oct 9;160(18):2835-43. doi: 10.1001/archinte.160.18.2835.
- Background: PubMed 17161930Roca M, Mota J, Alfonso P, Pocovi M, Giraldo P. S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 2007 Apr;62(1):132-7. doi: 10.1016/j.ejrad.2006.11.024. Epub 2006 Dec 11.
- Background: PubMed 20027115Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.
- Background: PubMed 18094966Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee J, Steinbach L. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8. doi: 10.1007/s00256-007-0425-0. No abstract available.
- Background: PubMed 14677062Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel E, Vellodi A. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004 Feb;163(2):67-75. doi: 10.1007/s00431-003-1363-z. Epub 2003 Dec 16.
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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.
Diego Jaramillo, MD, MPH principal investigator
Children's Hospital of Philadelphia
Paige Kaplan, MBBCh study chair
Children's Hospital of Philadelphia
Maria A Bedoya, MD study director
Children's Hospital of Philadelphia
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 Gaucher, run by Children's Hospital of Philadelphia 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 5 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 4 Feb 2015. 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?
Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls. (time frame: within 5 minutes). 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 NCT01397435, which also lists 7 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 4 Feb 2015; AzTrials last refreshed its copy on 7 Nov 2026.