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A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02322255
First Posted: December 23, 2014
Last Update Posted: March 23, 2017
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.
Information provided by (Responsible Party):
Clementia Pharmaceuticals Inc.
  Purpose
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, severely disabling disease characterized by painful, recurrent episodes of soft tissue swelling (flare-ups) that result in abnormal bone formation in muscles, tendons, and ligaments. Flare-ups begin early in life and may occur spontaneously or after soft tissue trauma, vaccinations, or influenza infections. Recurrent flare-ups progressively restrict movement by locking joints leading to cumulative loss of function and disability. This 3-year, non-interventional, two-part, natural history study is designed to gain insight into total body HO, FOP disease progression, the impact of FOP on subjects' physical functioning, and clinical features and biomarkers that may be useful in the diagnosis and monitoring of disease progression. This natural history study will also provide important information to inform the design of subsequent interventional trials.

Condition
Fibrodysplasia Ossificans Progressiva

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)

Resource links provided by NLM:


Further study details as provided by Clementia Pharmaceuticals Inc.:

Primary Outcome Measures:
  • Change from baseline in the total body burden of heterotopic ossification as assessed by the optimal imaging modality (low-dose whole body CT [excluding head]). [ Time Frame: Month 36 ]

Secondary Outcome Measures:
  • Change from baseline in physical function as assessed by range of motion. [ Time Frame: Month 12, Month 24, and Month 36 ]
  • Change from baseline in patient-reported use of assistive devices and adaptations. [ Time Frame: Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36 ]
  • Change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]). [ Time Frame: Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36 ]
  • Change from baseline in a patient-reported measure of physical and mental health (PROMIS Global Health Scale). [ Time Frame: Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36 ]
  • Change from baseline in biomarkers. [ Time Frame: Month 12, Month 24, and Month 36 ]
  • Flare-up progression as assessed by the change from baseline in heterotopic ossification at the flare-up site. [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]
  • Flare-up progression as assessed by the change from baseline in pain and swelling at the flare-up site. [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]
  • Flare-up progression as assessed by the change from baseline biomarkers. [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]
  • Flare-up progression as assessed by the change from baseline in physical function as assessed by range of motion. [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]
  • Flare-up progression as assessed by the change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]). [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]
  • Flare-up progression as assessed by the change from baseline in a patient-reported outcome measure of physical and mental health (PROMIS Global Health Scale). [ Time Frame: Flare-up initiation, Flare-up Days 42 and 84 ]

Biospecimen Retention:   Samples With DNA
Blood and urine samples for biomarker and proteomic analysis.

Estimated Enrollment: 100
Study Start Date: December 2014
Estimated Study Completion Date: October 2019
Estimated Primary Completion Date: October 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
All Subjects
All subjects enrolled in the study.

Detailed Description:

This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. A thorough baseline examination will be performed to determine the current status of disease in each subject. In Part A, two imaging modalities assessed total body HO at baseline, and the optimal method (low-dose whole body CT scan [excluding head]) will be employed in Part B for the balance of the study. Progression will be assessed at annual in-clinic visits (ie, at Months 12, 24, and 36) at which time the procedures conducted at the baseline visit will be repeated. In addition, site personnel will telephone subjects midway between the annual visits (ie, at Months 6, 18, and 30).

During the 36-month follow-up period, at least one new flare-up (with a maximum of one per year) will be carefully studied. An in-clinic visit will be performed within 14 days following the subject's identification of his/her flare-up. Additional visits at Day 42 and Day 84 (after the initial flare-up clinic visit) will be performed. An additional future visit may be scheduled after Day 84 at the discretion of the Principal Investigator (PI) for prolonged flare-ups. However, subjects with an eligible flare-up may elect to participate in an ongoing Clementia interventional study rather than continue in this natural history study.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   up to 65 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with classic FOP (R206H mutation).
Criteria

Inclusion Criteria:

- Subjects clinically diagnosed with classical FOP with documented R206H mutation or believed to carry the R206H mutation

Exclusion Criteria:

- Participation in an interventional clinical research study within the 4 weeks prior to enrollment

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02322255


Locations
United States, California
University of California San Francisco, Division of Endocrinology and Metabolism
San Francisco, California, United States, 94143
United States, Pennsylvania
University of Pennsylvania, Center for FOP & Related Bone Disorders
Philadelphia, Pennsylvania, United States, 19104
Argentina
Hospital Italiano de Buenos Aires, Department of Pediatrics
Buenos Aires, Argentina
Australia, Queensland
Queensland University of Technology (QUT) Institute of Health and Biomedical Innovation (IHBI)
Woolloongabba, Queensland, Australia, 4102
France
Hôpital Necker-Enfants Malades, Department of Genetics
Paris, France
Italy
Gaslini Institute, Unit of Rare Diseases, Department of Pediatrics
Genoa, Italy
United Kingdom
The Royal National Orthopaedic Hospital, Brockley Hill
Stanmore, Middlesex, United Kingdom, HA7 4LP
Sponsors and Collaborators
Clementia Pharmaceuticals Inc.
Investigators
Study Director: Donna Grogan, MD Clementia Pharmaceuticals Inc.
  More Information

Additional Information:
Publications:
Responsible Party: Clementia Pharmaceuticals Inc.
ClinicalTrials.gov Identifier: NCT02322255     History of Changes
Other Study ID Numbers: PVO-1A-001
First Submitted: December 8, 2014
First Posted: December 23, 2014
Last Update Posted: March 23, 2017
Last Verified: December 2016

Keywords provided by Clementia Pharmaceuticals Inc.:
Natural History Study
Non-interventional Study
Observational Study
Heterotopic ossification
Fibrodysplasia Ossificans Progressiva
FOP disease progression
FOP flare-up progression
Clementia
Myositosis Ossificans Progressiva
Munchmeyer's Disease
FOP
Palovarotene

Additional relevant MeSH terms:
Myositis Ossificans
Myositis
Muscular Diseases
Musculoskeletal Diseases