Neurofibromatosis Type 1SpineNCT00844129
Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)
An observational study of Neurofibromatosis Type 1, run by University of Utah at 1 site in United States.
Trial summary
The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities. Read more about this study
- Who is it for?
- Ages 6 to 9 years
- Conditions the study is for
- Neurofibromatosis Type 1
- How many people
- 112 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2006to Dec 2012
- 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 6 to 9 years
- All sexes
- No healthy volunteers
- Child
Study population: The cohort will be recruited from a primary care clinic.
Who may be able to join
- Diagnosis of NF1
- Age greater than 6 years at time of enrollment
- Age less than 9 year and 1 day at time of enrollment
- Tanner Stage not greater than 1
Who cannot join
- Prior surgical repair of spine
- Short-segment (4-6 vertebrae) curve with a Cobb angle of 45°or more
- Hormone replacement therapy
- Chronic steroid use
- Tibial pseudarthrosis
- Other chronic medical problems known to influence bone health (i.e. diabetes mellitus, cerebral palsy, etc.)
Trial locations and contacts
1 site in 1 country.
United States1 site
University Health Care, 50 North Medical Drive
Salt Lake City, Utah, 84132
About this study
The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.
Read the detailed description
Neurofibromatosis type 1 (NF1) is a common genetic disorder that is associated with spinal abnormalities which are varied and may include scoliosis, neurofibromas, meningoceles, and vertebral defects. Skeletal abnormalities occur in more than one third of individuals with the disorder. These abnormalities are unpredictable and the pathogenesis, natural history, and clinical outcome remain relatively unclear.
The primary objective of this study is to determine the incidence and clinical history of NF1-related spinal abnormalities in children with NF1, over a 3-year period.
In the study, researchers will enroll children between ages 6 and 9 years who have been diagnosed with NF1 to look at changes in the spine. Participants in the study will be followed yearly for a total of 4 evaluations. Evaluations may include bone scans, spinal x-rays, magnetic resonance imaging (MRI), computed tomography (CT) scans, and urine samples.
Information gained from this study may lead to a better understanding of the causes of bone disease in NF1, and improved treatment.
- Conditions
- Neurofibromatosis Type 1
- Keywords
- neurofibromatosis type 1, spinal abnormalities, scoliosis
- Medical subject headings
- Neurofibromatosis 1, Scoliosis
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 |
|---|---|---|
| Neurofibromatosis Type 1 | Children with Neurofibromatosis Type 1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Scoliosis and it's progression
Measured: 4 years
Secondary outcomes (1)
Differences in other bone health variables as measured by thoracic MRIs, Dexa (xray measuring bone density), pQCT (a cross sectional picture of the tibia), urine analysis, and scoli series (xrays to look for scoliosis).
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Feb 2009 (estimated)
- Study startDec 2006
- Primary completionDec 2012
- Study completionDec 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 1Studies 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
- 112 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, David Viskochil, University of Utah
- Investigators
- David Viskochil, MD, PhD, Principal investigator, Division of Medical Genetics, Department of Pediatrics, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00844129
- Sponsor's protocol ID
- 15464
- Other IDs
- R01NS050509
- Acronym
- Spine
- Status last verified
- Apr 2018
- First submitted
- 12 Feb 2009
- Last updated
- 3 May 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 May 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)
- ClinicalTrials.gov ID
- NCT00844129
- Acronym / sponsor ID
- Spine / 15464
- Conditions
- Neurofibromatosis Type 1
- Keywords
- neurofibromatosis type 1, spinal abnormalities, scoliosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 112 participants (actual)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Dec 2006 (actual)
- Primary completion
- Dec 2012 (actual)
- Study completion
- Dec 2012 (actual)
- First posted
- 13 Feb 2009 (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 purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.
Detailed description
Neurofibromatosis type 1 (NF1) is a common genetic disorder that is associated with spinal abnormalities which are varied and may include scoliosis, neurofibromas, meningoceles, and vertebral defects. Skeletal abnormalities occur in more than one third of individuals with the disorder. These abnormalities are unpredictable and the pathogenesis, natural history, and clinical outcome remain relatively unclear.
The primary objective of this study is to determine the incidence and clinical history of NF1-related spinal abnormalities in children with NF1, over a 3-year period.
In the study, researchers will enroll children between ages 6 and 9 years who have been diagnosed with NF1 to look at changes in the spine. Participants in the study will be followed yearly for a total of 4 evaluations. Evaluations may include bone scans, spinal x-rays, magnetic resonance imaging (MRI), computed tomography (CT) scans, and urine samples.
Information gained from this study may lead to a better understanding of the causes of bone disease in NF1, and improved treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Neurofibromatosis Type 1 | – | –Children with Neurofibromatosis Type 1 |
Who may qualify
- Ages
- 6 to 9 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The cohort will be recruited from a primary care clinic.
Key inclusion criteria (4 listed)
- Diagnosis of NF1
- Age greater than 6 years at time of enrollment
- Age less than 9 year and 1 day at time of enrollment
- Tanner Stage not greater than 1
Key exclusion criteria (6 listed)
- Prior surgical repair of spine
- Short-segment (4-6 vertebrae) curve with a Cobb angle of 45°or more
- Hormone replacement therapy
- Chronic steroid use
- Tibial pseudarthrosis
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
Scoliosis and it's progression
Time frame: 4 years
1 secondary outcome
Differences in other bone health variables as measured by thoracic MRIs, Dexa (xray measuring bone density), pQCT (a cross sectional picture of the tibia), urine analysis, and scoli series (xrays to look for scoliosis).
Time frame: 4 years
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 3 May 2018.
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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.
David Viskochil, MD, PhD principal investigator
Division of Medical Genetics, Department of Pediatrics, University of Utah
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 Neurofibromatosis Type 1, run by University of Utah 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 6 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 3 May 2018. 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?
Scoliosis and it's progression (time frame: 4 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 3 May 2018.