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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]

PVO-1A-001

Universal Trial Number (UTN)

Trial acronym

Linked study record

Health condition

Health condition(s) or problem(s) studied:

Fibrodysplasia Ossificans Progressiva

Condition category

Condition code

Musculoskeletal

Other muscular and skeletal disorders

Human Genetics and Inherited Disorders

Other human genetics and inherited disorders

Injuries and Accidents

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]

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]

Month 36

Secondary outcome [1]

Change from baseline in physical function as assessed by range of motion.

Timepoint [1]

Month 12, Month 24, and Month 36

Secondary outcome [2]

Change from baseline in patient-reported use of assistive devices and adaptations.

Timepoint [2]

Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36

Secondary outcome [3]

Change from baseline in a disease-specific patient-reported outcome measure (FOP-Physical Function Questionnaire [FOP-PFQ]).

Timepoint [3]

Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36

Secondary outcome [4]

Change from baseline in a patient-reported measure of physical and mental health (PROMIS Global Health Scale).

Timepoint [4]

Month 6, Month 12, Month 18, Month 24, Month 30, and Month 36

Secondary outcome [5]

Change from baseline in biomarkers.

Timepoint [5]

Month 12, Month 24, and Month 36

Secondary outcome [6]

Flare-up progression as assessed by the change from baseline in heterotopic ossification at the flare-up site.

Timepoint [6]

Flare-up initiation, Flare-up Days 42 and 84

Secondary outcome [7]

Flare-up progression as assessed by the change from baseline in pain and swelling at the flare-up site.

Timepoint [7]

Flare-up initiation, Flare-up Days 42 and 84

Secondary outcome [8]

Flare-up progression as assessed by the change from baseline biomarkers.

Timepoint [8]

Flare-up initiation, Flare-up Days 42 and 84

Secondary outcome [9]

Flare-up progression as assessed by the change from baseline in physical function as assessed by range of motion.

Timepoint [9]

Flare-up initiation, Flare-up Days 42 and 84

Secondary outcome [10]

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]

Flare-up initiation, Flare-up Days 42 and 84

Secondary outcome [11]

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]

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]

Queensland University of Technology (QUT) Institute of Health and Biomedical Innovation (IHBI) - Woolloongabba

Recruitment postcode(s) [1]

4102 - Woolloongabba

Recruitment outside Australia

Country [1]

United States of America

State/province [1]

California

Country [2]

United States of America

State/province [2]

Pennsylvania

Country [3]

Argentina

State/province [3]

Buenos Aires

Country [4]

France

State/province [4]

Paris

Country [5]

Italy

State/province [5]

Genoa

Country [6]

United Kingdom

State/province [6]

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

Ipsen Medical Director

Address

Ipsen

Country

Phone

Fax

Email

Contact person for public queries

Name

Address

Country

Phone

Fax

Email

Contact person for scientific queries

No information has been provided regarding IPD availability

What supporting documents are/will be available?

No Supporting Document Provided

Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT02322255