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Bisphosphonate Therapy in MONA Spectrum Disorder

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02823925
Recruitment Status : Completed
First Posted : July 6, 2016
Last Update Posted : July 6, 2016
Sponsor:
Information provided by (Responsible Party):
Karin Pichler, Medical University Innsbruck

Tracking Information
First Submitted Date July 1, 2016
First Posted Date July 6, 2016
Last Update Posted Date July 6, 2016
Study Start Date February 2013
Actual Primary Completion Date January 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 5, 2016)
bone mineral density [ Time Frame: 10 years ]
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Bisphosphonate Therapy in MONA Spectrum Disorder
Official Title Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach
Brief 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. 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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Three siblings were enrolled in the study.
Condition
  • Bone Density
  • Pain
  • Fracture
Intervention Drug: Pamidronate or Zoledronate
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: July 5, 2016)
3
Original Actual Enrollment Same as current
Study Completion Date Not Provided
Actual Primary Completion Date January 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • genetically confirmed MONA spectrum disorder
  • treatment with bisphosphonates intravenously
  • positive informed consent

Exclusion Criteria:

  • 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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT02823925
Other Study ID Numbers SREP-16-11962A
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Karin Pichler, Medical University Innsbruck
Study Sponsor Medical University Innsbruck
Collaborators Not Provided
Investigators Not Provided
PRS Account Medical University Innsbruck
Verification Date July 2016