Clinical Studies & Trials

FOP Registry

Research Sponsor: IFOPA 

Research Description: The FOP Registry was established to advance our understanding of FOP, enhance clinical care and facilitate clinical trial designs. The FOP Registry is the largest and most in-depth collection of FOP medical and clinical information. The FOP Registry is also a resource for practitioners to publish and help elevate awareness about this rare disorder. It is governed by an advisory board of renowned physicians with direct experience treating FOP.

Who Can Participate: Anyone living with FOP is eligible to participate by entering information every six months. It's simple, secure and participant anonymity is always assured.

Study Link/Contact Information: fopregistry.org

Status: Enrollment is Open

Impact of Fibrodysplasia Ossificans Progressiva Progression on Growth and Adolescent Development 

Research Sponsor: Hsiao Lab at University of California, San Francisco within the Department of Endocrinology

Research Description: This study aims to understand how fibrodysplasia ossificans progressiva (FOP) and its disease progression may affect physical development and growth.

Who Can Participate: Anyone living with FOP is eligible to participate.

What Does This Study Involve? 

1. A medical review that will be conducted with study staff 

2. Completion of various medical questionnaires 

3. Collection of growth curves 

Direct participation in this study will take approximately one hour. Additional time may be needed to obtain clarifying medical information. Study staff may occasionally contact participants with follow-up questions. 

Study Link/Contact Information: If interested, contact Edward Hsiao, MD, PhD, at [email protected] to learn more about the study.

Status: Active, no longer recruiting

Observational Pre-post Study to Observe if the Off-label Use of Anti-IL1 Therapies, such as Anakinra or Canakinumab, Can Block ACVR1-induced Flare Activity and Heterotopic Ossification in FOP

Research Sponsor: University of California, San Francisco (UCSF)

Research Description: This is a study to observe if anti-IL1 medications, such as anakinra or canakinumab, can block FOP activity, including swelling, pain, decreased movement, stiffness, warmth, redness, and, ultimately, heterotopic ossification. This study does NOT provide medication, but seeks to track patients planning to start anti-IL1 medications. If you're already on an anti-IL1 medication, there is now an observational arm for you to participate in. Please reach out to Dr. Hsiao at the contact information below.  

Important procedural note: UCSF cannot provide specific advice to patients on whether to take an anti-IL1 medication. However, UCSF can provide general documents to the local healthcare provider to support the decision-making discussion. The decision to start anti-IL1 therapy should be discussed with the individual's local healthcare provider. The local healthcare provider must also prescribe the anti-IL1 medication, as this observational study does not provide medication.   

What Does This Study Involve? 

• Medical chart review

• Participation in surveys and video assessments

• Whole body low-dose computed tomography (CT) imaging (can be completed locally)

• Donation of blood samples

• This study does not provide the anti-IL1 medication, but UCSF can work with the referring local healthcare provider to obtain the medication

• Optional: Travel twice to UCSF for clinical assessments

• Participants may receive up to $2000/visit for study-related expenses

Who Can Participate:

• Diagnosis of fibrodysplasia ossificans progressiva (FOP) 

• Age 6-30 years at the start of the study 

• Severe FOP (more than 4 flare-ups per year)

• Not responding to standard therapies

• Local healthcare provider has recommended that anti-IL1 medication should be started, but study participant has not started taking the medication. 
  Note: If an anti-IL1 medication has already been started, the patient is eligible for the on-treatment arm, but will not be asked to travel and there is no compensation available.

Clinical Trial Link/Contact Information: Interested families should contact Edward Hsiao, MD, PhD, at [email protected] to learn more about the study. Learn more on clinicaltrials.gov 

Status: Active, Recruiting

Understanding the FOP Journey Through Existing Medical Data

Research Sponsor: IFOPA 

Research Description: The International FOP Association (IFOPA) is conducting an observational research study to support researchers who want to learn more about the clinical outcomes of FOP using existing medical data (e.g. electronic medical records, insurance claims data, etc). Participants simply provide the IFOPA some basic contact information which alleviates the need for participants to complete lengthy questionnaires and shortens the timeline of the study. The IFOPA then works with third-party software companies whose software tools create a unique de-identified code (token) for each FOP participant. Future research studies will then use that token to pull participants’ medical information securely and confidentially from electronic health records and claims data, all while keeping the participants’ identities private. This research is supported by Regeneron Pharmaceuticals and IPSEN.

Who Can Participate:  This study is only open to those living in the United States, and meets one of the following criteria:
1. Anyone diagnosed with FOP
2. Next of kin of anyone diagnosed with FOP who passed in the timeframe January 1, 2017, to present

Clinical Trial Link/Contact Information:

• If you or a living child are diagnosed with FOP, click here
• If you are the next of kin of anyone diagnosed with FOP who passed in the timeframe January 1, 2017, to present, click here

Questions? Email [email protected]

Status: Enrollment is Open

FOP Biobank

Research Sponsor: IFOPA

Research Description: The IFOPA Biobank is a centralized collection of tissue and blood donated by people with FOP, their families, and anyone else, to be used for FOP research by qualified scientists around the world. Additionally, the IFOPA Biobank collects clinical information from people with FOP to enable research into factors that affect treatment and outcomes. By sharing portions of the samples and the anonymous health information with many different labs around the world, the IFOPA Biobank will maximize the impact from each donation.

Who Can Participate: Anyone over the age of 4 can donate. Samples are needed from FOP patients, family members and non-related volunteers. The FOP Biobank also needs repeat donors, so please consider donating multiple samples.

Study Link/Contact Information: ifopa.org/biobank

Status: Active, Recruiting

Genetic Modifiers of FOP

Research Sponsor: University of California, San Francisco (UCSF)

Research Description: The Hsiao lab at UCSF is interested in understanding how genes affect the FOP mutations in ACVR1, and modify the severity of the FOP presentation. The UCSF research team is collecting medical history information and saliva or blood DNA, if available. Participation in this study does not involve on-site clinic visits, and blood collections are not required.

Who Can Participate: Contact study investigator for more information

Study Link/Contact Information: Interested families should contact Dr. Hsiao directly at [email protected] to learn more about the study.

Status: Active, Recruiting

Global Patient Insights Survey 

Research Sponsor: IFOPA 

Research Description: The International FOP Association (IFOPA), through the FOP Registry, is launching a one-time survey that allows participants to share additional information about their FOP journeys. These questions have not been previously asked in the Registry or other trials, studies, or surveys. 

This Patient Insights Survey asks crucial questions related to diagnosis, growth, clinical trial participation, pain, mobility, medications, and more. Information will be collected through our FOP Registry platform which keeps your data secure and confidential. 

Like all Registry data, FOP researchers, doctors and pharmaceutical partners can request anonymized data to inform their research, improve patient care, and support clinical trial design. The IFOPA will publish results from this study to help FOP families better understand the condition. 

This study is supported by grants from Incyte, IPSEN and Regeneron Pharmaceuticals.

What Does This Study Involve?

• Current Registry Participants: Complete the Patient Insights Survey at fopregistry.org using your current login information. Once logged in, you will find your survey under the Activities section. 
  
  
• Registry Participant But Not Seeing the Patient Insights Survey in the Activities Section: Your Enrollment Survey may not be complete. Look for a link to complete your Enrollment Survey. Once completed, wait a few minutes and the Patient Insights Survey will be available on your Registry home page for completion.
  
  
• Never Enrolled in the Registry: If you are interested in participating but are not yet enrolled in the Registry, simply register at fopregistry.org and complete your Enrollment Survey. Once enrollment is complete, the Patient Insights Survey can be completed. 

This survey will close on March 15, 2025. For completing the Patient Insights Survey, you will receive a fifty USD electronic reward. Patients new to the Registry will also get a twenty-five USD electronic reward for also completing the Enrollment Survey. Rewards are issued the month following survey completion.* 

Who Can Participate: This global study is open to anyone living with FOP (for children, a parent or guardian may complete the survey), but you must have completed your enrollment in the FOP Registry. If assistance is needed, a caregiver may assist an adult living with FOP in the completion of their survey. 

Like the FOP Registry, the survey is available in English, French, German, Italian, Korean, Polish, Portuguese, Russian and Spanish. It can be completed on a desktop or mobile app. 

Study Link/Contact Information: This study is closed.  

Status: Completed

*Participants must reside in a country where electronic rewards are permissible. If you reside in a country where electronic rewards are not permissible, please contact Tremendous, the company that issues the electronic rewards, at [email protected].

Study of Health Insurance Literacy and Access Burdens in FOP

Research Sponsor: IFOPA 

Research Description: The International FOP Association (IFOPA) is sponsoring an observational research study conducted by Engage Health (a health research firm) to learn more from FOP families about your understanding of health insurance. We’ll also learn about the challenges you may have experienced accessing desired care and coverage for medications, services, devices and equipment.

The study platform is secure, and all study results will be anonymized and aggregated. You will be given an option to have your responses linked to your FOP Registry record.

This study is supported by grants from the EveryLife Foundation Rare Giving Program, IPSEN and Regeneron Pharmaceuticals.

What Does This Study Involve? Participants who complete an online survey (which should take approximately 30 minutes) will receive a $50 honorarium. Then participants can express interest in participating in a follow-up interview (which should take approximately 60 minutes). If selected, interview participants will receive an additional $100 honorarium.

Who Can Participate: Subjects eligible for enrollment in the study must live in the United States and meet all the following criteria:

1. The participant must be a person with FOP who is age 18 years or older
   or
   The parent/legal guardian of a person with FOP who is younger than age 18
   or
   The parent/legal guardian of a person with FOP who is 18 years or older and who is unable to answer for themselves and/or for whom the parent/legal guardian has managed access/insurance issues.
   
   Only one family member is eligible to complete the survey and interview for one person diagnosed with FOP. If there are multiple persons in a family diagnosed with FOP, they or their parent/legal guardian may revisit the survey site and participate once for each diagnosed person.
   
   Please note: If the person diagnosed with FOP has passed away in the last year, a parent/caregiver/spouse will be able to participate in the study.

2. Confirmed diagnosis of FOP by providing proof of disease (such as genetic diagnosis from a relevant testing laboratory, physician consult notes, school note describing accommodations and disease name, or medical record of diagnosis) via an uploaded form
   
   
3. Live in the United States
   
   
4. Able to read, write, and communicate in English
   
   
5. Able to grant informed consent
   
   
6. Willing to complete a 30-minute web-based survey and RSVP and to participate in a 60-minute telephone interview (optional)
   
   
7. Able to view or receive a document from the interviewer before or during the interview (web browser, ability to receive a text, fax or document by mail)

Study Link/Contact Information: This study is closed.

Status: Completed

FOP-PROMPT Development Study

Research Sponsor: IFOPA

Research Description: The IFOPA is launching a study to evaluate the utility of the Fibrodysplasia Ossificans Progressiva-foP RepOrted syMPtoms Tool (FOP-PROMPT) in future clinical trials for FOP. FOP-PROMPT is a patient reported-outcome (PRO) questionnaire designed to evaluate signs, symptoms and impacts of FOP and FOP flare-ups among individuals 8 years of age and older in the FOP community. The development of this questionnaire is for future use in the FOP Registry and clinical research and will be communicated to regulatory authorities regarding its use to support product approval and labeling.

Who Can Participate: The IFOPA is looking for participants who have a diagnosis of FOP, can read English, and who are 8 years of age and older.

Study Link/Contact Information: This study is closed.

Status: Completed