A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)

NCT06064656 | Completed

• 1 other identifier: R2477-FOP-2143
• Study Type: observational
• Target: 131
• Locations: 1 country
• Sites: 1

Brief Summary

Primary Objective(s):

• To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.)
• To describe the prevalence of clinical characteristics of interest and the use of key medications in people living with FOP and a matched cohort of non-FOP people living in the U.S.
• To compare the prevalence of key clinical characteristics and medication use in people living with FOP to a matched cohort of non-FOP people living in the U.S.
• To estimate the crude mortality rate among people living with FOP

Conditions

Fibrodysplasia Ossificans Progressiva (FOP)

Keywords

Genetic disease; Heterotopic ossification (HO); Skeletal dysplasia; Activin A receptor, type I (ACVR1)

Outcome Measures

Primary Outcomes (16)

• Demographic characteristics

  Up to 5 years

• Prevalence of cardiovascular disease

  Up to 5 years

• Prevalence of metabolic disease

  Up to 5 years

• Prevalence of hematology disease

  Up to 5 years

• Prevalence of infection

  Up to 5 years

• Prevalence of respiratory disease

  Up to 5 years

• Prevalence of reproductive disease

  Up to 5 years

• Prevalence of neurologic disorders

  Up to 5 years

• Prevalence of skeletal disorders

  Up to 5 years

• Prevalence of gastrointestinal disease

  Up to 5 years

• Prevalence of hearing loss

  Up to 5 years

• Prevalence of dermatologic disorders

  Up to 5 years

• Prevalence of neoplasms

  Up to 5 years

• Average number of dispensations per FOP patient per year

  Up to 5 years

• Cumulative number of dispensations per FOP patient

  Up to 5 years

• Incidence of all-cause death

  FOP Sub-Cohorts 1 and 2 Only

  Up to 5 years

Study Arms (2)

FOP Cohort

Sub-Cohort 1: All patients with active enrollment (closed claims) during part or all the study period (2018-2023) Sub-Cohort 2: All patients with both active enrollment (closed claims) and open claims encounters during study period (2018-2022)

Other: Non-Interventional

Comparator Cohort

All individuals without FOP and with active enrollment (closed claims) during part or all of the study period (2018-2023)

Other: Non-Interventional

Interventions

Non-Interventional OTHER

No study treatment will be administered in this study.

Comparator Cohort; FOP Cohort

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

FOP Cohort(s): The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) membership has 235 confirmed people living with FOP in the US. From this membership database, there were 131 members or next of kin of members who opted-in to allow for the tokenization of their membership data to occur. Comparator Cohort: A random sample of 100,000 people from an insured population without FOP diagnosis living in the U.S. and matched to the FOP population.

You may qualify if:

• FOP Cohort(s):
• Living with FOP in the United States who have been identified from the IFOPA membership database
• Confirmed FOP diagnosis through IFOPA membership database will be tokenized and linked with HealthVerity's medical claims data, pharmacy claims data, laboratory data and obituary data, as defined in the protocol
• Comparator Cohort:
• People without FOP living in the U.S. randomly sampled from HealthVerity's closed medical claims data and matched to the FOP population
• Index date are defined as each person's cohort entry date. People may exit and re-enter the cohort, with the period during which they were not in the cohort excluded from the analysis
• The comparator cohort will be matched to the cohort of people with FOP on the following variables: age, sex, insurance type and first index date

Sponsors & Collaborators

• Regeneron Pharmaceuticals: lead

Study Sites (1)

Regeneron

Tarrytown, New York, 10591, United States

Location

MeSH Terms

Conditions

Myositis Ossificans; Genetic Diseases, Inborn; Ossification, Heterotopic; Mucopolysaccharidosis IV

Condition Hierarchy (Ancestors)

Myositis; Muscular Diseases; Musculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Clinical Trial Management

  Regeneron Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 11, 2023
• First Posted: October 3, 2023
• Study Start: June 29, 2023
• Primary Completion: September 22, 2023
• Study Completion: September 29, 2023
• Last Updated: July 3, 2025

Record last verified: 2025-06

Locations

US (1)