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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT02322255




Registration number
NCT02322255
Ethics application status
Date submitted
8/12/2014
Date registered
23/12/2014
Date last updated
26/06/2020

Titles & IDs
Public title
A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)
Scientific title
A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)
Secondary ID [1] 0 0
PVO-1A-001
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Fibrodysplasia Ossificans Progressiva 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Injuries and Accidents 0 0 0 0
Other injuries and accidents

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
All Subjects - All subjects enrolled in the study.
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
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]).
Timepoint [1] 0 0
Month 36
Secondary outcome [1] 0 0
Change from baseline in physical function as assessed by range of motion.
Timepoint [1] 0 0
Month 12, Month 24, and Month 36
Secondary outcome [2] 0 0
Change from baseline in patient-reported use of assistive devices and adaptations.
Timepoint [2] 0 0
Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36
Secondary outcome [3] 0 0
Change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]).
Timepoint [3] 0 0
Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36
Secondary outcome [4] 0 0
Change from baseline in a patient-reported measure of physical and mental health (PROMIS Global Health Scale).
Timepoint [4] 0 0
Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36
Secondary outcome [5] 0 0
Change from baseline in biomarkers.
Timepoint [5] 0 0
Month 12, Month 24, and Month 36
Secondary outcome [6] 0 0
Flare-up progression as assessed by the change from baseline in heterotopic ossification at the flare-up site.
Timepoint [6] 0 0
Flare-up initiation, Flare-up Days 42 and 84
Secondary outcome [7] 0 0
Flare-up progression as assessed by the change from baseline in pain and swelling at the flare-up site.
Timepoint [7] 0 0
Flare-up initiation, Flare-up Days 42 and 84
Secondary outcome [8] 0 0
Flare-up progression as assessed by the change from baseline biomarkers.
Timepoint [8] 0 0
Flare-up initiation, Flare-up Days 42 and 84
Secondary outcome [9] 0 0
Flare-up progression as assessed by the change from baseline in physical function as assessed by range of motion.
Timepoint [9] 0 0
Flare-up initiation, Flare-up Days 42 and 84
Secondary outcome [10] 0 0
Flare-up progression as assessed by the change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]).
Timepoint [10] 0 0
Flare-up initiation, Flare-up Days 42 and 84
Secondary outcome [11] 0 0
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).
Timepoint [11] 0 0
Flare-up initiation, Flare-up Days 42 and 84

Eligibility
Key inclusion criteria
- Subjects clinically diagnosed with classical FOP with documented R206H mutation or believed to carry the R206H mutation
Minimum age
No limit
Maximum age
65 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- Participation in an interventional clinical research study within the 4 weeks prior to enrollment

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
18/12/2014
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
9/04/2020
Sample size
Target
Accrual to date
Final
114
Recruitment in Australia
Recruitment state(s)
QLD
Recruitment hospital [1] 0 0
Queensland University of Technology (QUT) Institute of Health and Biomedical Innovation (IHBI) - Woolloongabba
Recruitment postcode(s) [1] 0 0
4102 - Woolloongabba
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Pennsylvania
Country [3] 0 0
Argentina
State/province [3] 0 0
Buenos Aires
Country [4] 0 0
France
State/province [4] 0 0
Paris
Country [5] 0 0
Italy
State/province [5] 0 0
Genoa
Country [6] 0 0
United Kingdom
State/province [6] 0 0
Middlesex

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Clementia Pharmaceuticals Inc.
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
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.
Trial website
https://clinicaltrials.gov/study/NCT02322255
Trial related presentations / publications
Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br. 1982;64(1):76-83. doi: 10.1302/0301-620X.64B1.7068725.
Zhang W, Zhang K, Song L, Pang J, Ma H, Shore EM, Kaplan FS, Wang P. The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases. Bone. 2013 Dec;57(2):386-91. doi: 10.1016/j.bone.2013.09.002. Epub 2013 Sep 17.
Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, Sando N, Zasloff M, Kaplan FS. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am. 1993 Feb;75(2):215-9. doi: 10.2106/00004623-199302000-00008.
Warner SE, Kaplan FS, Pignolo RJ, Smith SE, Hsiao EC, De Cunto C, Di Rocco M, Harnett K, Grogan D, Genant HK. Whole-body Computed Tomography Versus Dual Energy X-ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva. Calcif Tissue Int. 2021 Dec;109(6):615-625. doi: 10.1007/s00223-021-00877-6. Epub 2021 Jul 31.
Kou S, De Cunto C, Baujat G, Wentworth KL, Grogan DR, Brown MA, Di Rocco M, Keen R, Al Mukaddam M, le Quan Sang KH, Masharani U, Kaplan FS, Pignolo RJ, Hsiao EC. Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva. Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x.
Towler OW, Shore EM, Kaplan FS. Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva. Bone. 2020 Jan;130:115116. doi: 10.1016/j.bone.2019.115116. Epub 2019 Oct 23.
Pignolo RJ, Baujat G, Brown MA, De Cunto C, Di Rocco M, Hsiao EC, Keen R, Al Mukaddam M, Sang KLQ, Wilson A, White B, Grogan DR, Kaplan FS. Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes. Orphanet J Rare Dis. 2019 May 3;14(1):98. doi: 10.1186/s13023-019-1068-7. Erratum In: Orphanet J Rare Dis. 2019 May 23;14(1):113. doi: 10.1186/s13023-019-1096-3.
Public notes

Contacts
Principal investigator
Name 0 0
Ipsen Medical Director
Address 0 0
Ipsen
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT02322255