Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
3 participants
OBSERVATIONAL
2013-02-28
Brief Summary
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Detailed Description
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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
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Study Design
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COHORT
RETROSPECTIVE
Interventions
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Pamidronate or Zoledronate
Eligibility Criteria
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Inclusion Criteria
* treatment with bisphosphonates intravenously
* positive informed consent
Exclusion Criteria
* oral treatment with bisphosphonates in MONA spectrum disorder
* other inherited osteolysis syndromes than MONA spectrum disorder
ALL
No
Sponsors
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Medical University Innsbruck
OTHER
Responsible Party
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Karin Pichler
MD PhD
Other Identifiers
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SREP-16-11962A
Identifier Type: -
Identifier Source: org_study_id
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