Bone DensityNCT02823925
Bisphosphonate Therapy in MONA Spectrum Disorder
An observational study of Bone Density and Pain, run by Medical University Innsbruck.
Trial summary
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Bone Density, Pain, Fracture
- What is being tested?
- Pamidronate or Zoledronate
- How many people
- 3 participants
- Where
- No sites listed yet
- Study dates
- Feb 2013to Jan 2015
- 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: Three siblings were enrolled in the study.
Who may be able to join
- genetically confirmed MONA spectrum disorder
- treatment with bisphosphonates intravenously
- positive informed consent
Who cannot join
- genetically confirmed MONA spectrum disorder treated otherwise than with bisphosphonates
- oral treatment with bisphosphonates in MONA spectrum disorder
- other inherited osteolysis syndromes than MONA spectrum disorder
About this study
Official title: Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. The investigators reviewed the outcome of patients affected with MONA and treated with intravenous bisphosphonates in the clinical Center.
Read the detailed description
Assessment of the patients:
After informed consent had been obtained from the patients affected from MONA spectrum disorder the investigators assessed the patients regarding the following characteristics: consanguinity, clinical symptoms at diseases on-set, age at on-set of symptoms and age at diagnosis, cognitive development, progression of clinical symptoms related to the diagnosis, molecular investigations, associated disorders as well as therapies besides bisphosphonate therapy. Informed consent from the patients was also obtained to publish the patient's photographs. All investigations are performed according to the relevant ethical guidelines.
Bisphosphonate therapy:
The reported patients received intravenous bisphosphonate therapy either with pamidronate (1 mg/kg/d on two consecutive days every 3 months) or zoledronate (a single dose of 0.05 mg/kg/day every 6 month).
Evaluation of disease progression and therapeutic success:
To assess both progression of MONA spectrum disorder and therapeutic success the patients were regularly evaluated clinically in 3 to 6 month intervals. Clinical evaluation comprised an internal, neurological and orthopaedic status as well as a general assessment of neurocognitive function. Additionally, need for oral analgesic therapy was documented. In irregular intervals, depending also on the clinical symptoms, x-rays of hand and feet were taken and a densitometry of the total body, lumbar spine and hip was performed.
- Conditions
- Bone Density, Pain, Fracture
- Being tested
- Pamidronate or Zoledronate
- Medical subject headings
- Pain, Fractures, Bone
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pamidronate or ZoledronateDrug
What is being measured
The primary outcome is the main question the study is designed to answer.
bone mineral density
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2016 (estimated)
- Study startFeb 2013
- Primary completionJan 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bone DensityStudies 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
- Retrospective
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Medical University Innsbruck
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Karin Pichler, Medical University Innsbruck
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02823925
- Sponsor's protocol ID
- SREP-16-11962A
- Status last verified
- Jul 2016
- First submitted
- 1 Jul 2016
- Last updated
- 6 Jul 2016
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach
- ClinicalTrials.gov ID
- NCT02823925
- Acronym / sponsor ID
- SREP-16-11962A
- Conditions
- Bone Density, Pain, Fracture
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Medical University InnsbruckUniversity, hospital or other
- Study start
- Feb 2013
- Primary completion
- Jan 2015 (actual)
- First posted
- 6 Jul 2016 (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.
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. The investigators reviewed the outcome of patients affected with MONA and treated with intravenous bisphosphonates in the clinical Center.
Detailed description
Assessment of the patients:
After informed consent had been obtained from the patients affected from MONA spectrum disorder the investigators assessed the patients regarding the following characteristics: consanguinity, clinical symptoms at diseases on-set, age at on-set of symptoms and age at diagnosis, cognitive development, progression of clinical symptoms related to the diagnosis, molecular investigations, associated disorders as well as therapies besides bisphosphonate therapy. Informed consent from the patients was also obtained to publish the patient's photographs. All investigations are performed according to the relevant ethical guidelines.
Bisphosphonate therapy:
The reported patients received intravenous bisphosphonate therapy either with pamidronate (1 mg/kg/d on two consecutive days every 3 months) or zoledronate (a single dose of 0.05 mg/kg/day every 6 month).
Evaluation of disease progression and therapeutic success:
To assess both progression of MONA spectrum disorder and therapeutic success the patients were regularly evaluated clinically in 3 to 6 month intervals. Clinical evaluation comprised an internal, neurological and orthopaedic status as well as a general assessment of neurocognitive function. Additionally, need for oral analgesic therapy was documented. In irregular intervals, depending also on the clinical symptoms, x-rays of hand and feet were taken and a densitometry of the total body, lumbar spine and hip was performed.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Three siblings were enrolled in the study.
Key inclusion criteria (3 listed)
- genetically confirmed MONA spectrum disorder
- treatment with bisphosphonates intravenously
- positive informed consent
Key exclusion criteria (3 listed)
- genetically confirmed MONA spectrum disorder treated otherwise than with bisphosphonates
- oral treatment with bisphosphonates in MONA spectrum disorder
- other inherited osteolysis syndromes than MONA spectrum disorder
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 |
|---|---|---|
| Pamidronate or Zoledronate | Drug | – |
Primary outcome
bone mineral density
Time frame: 10 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 6 Jul 2016.
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Bone Density and Pain, run by Medical University Innsbruck.
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 3 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 6 Jul 2016. Status can change between updates, so confirm with the study contact before making plans.
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?
bone mineral density (time frame: 10 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 6 Jul 2016.