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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R206H

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 A Phase 3, Efficacy and Safety Study of Oral Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, severely disabling disease characterized by heterotopic ossification (HO) often associated with painful, recurrent episodes of soft tissue swelling (flare-ups) that lead to ankyloses of major joints with cumulative and irreversible loss of movement and disability.

NCT03312634
Conditions
  1. Fibrodysplasia Ossificans Progressiva
Interventions
  1. Drug: Palovarotene
MeSH:Myositis Ossificans

- Previous participation in Clementia's natural history study (NCT02322255); clinically diagnosed with FOP, with the R206H ACVR1 mutation or other FOP variants reported to be associated with progressive HO (who have not participated in any Clementia-sponsored study); participants in Clementia's Phase 2 studies (NCT02279095 and NCT02979769) who cannot currently receive the chronic/flare-up regimen due to country of residence or those traveling long distances to participate in the Phase 2 studies. --- R206H ---

Primary Outcomes

Description: Annualized change in new HO volume as assessed by low-dose, WBCT (excluding head) compared to untreated subjects from the NHS.

Measure: Change in New HO Volume

Time: Screening, every 6 months to 2 years

Secondary Outcomes

Description: The proportion of subjects with any new HO.

Measure: Subjects with New HO

Time: Screening, every 6 months for 2 years, then annually up to 4 years

Description: Change from baseline in the number of body regions with new HO.

Measure: Number of Body Regions with HO

Time: Screening, every 6 months for 2 years, then annually up to 4 years

Description: The proportion of subjects reporting flare-ups.

Measure: Subjects with Flare-Ups

Time: Up to 4 years

Description: The rate of flare-ups per subject-month exposure.

Measure: Rate of Flare-Ups

Time: Up to 4 years

Description: Monitor adverse events.

Measure: Incidence of Adverse Events

Time: Up to 4 years

Description: Determination of AUC at steady-state assessed during treatment with 5, 10, and 20 mg palovarotene.

Measure: Palovarotene Area Under the Curve (AUC)

Time: Predose, and 3, 6, 10, and 24 hours postdose

Other Outcomes

Description: Change from baseline in range of motion as assessed by the Cumulative Analogue Joint Involvement Scale for FOP (CAJIS).

Measure: Range of Motion

Time: Screening, every 6 months up to 4 years

Description: Change from baseline in physical function using age-appropriate forms of the FOP-Physical Function Questionnaire (PFQ).

Measure: FOP-Physical Function Questionnaire

Time: Screening, every 6 months up to 4 years

Description: Change from baseline in physical/mental function using age-appropriate forms of the PROMIS Global Health Scale.

Measure: PROMIS Global Health Scale

Time: Screening, every 6 months up to 4 years

2 A Phase 2, Open-Label Extension, Efficacy and Safety Study of a RARĪ³-Specific Agonist (Palovarotene) in the Treatment of Preosseous Flare-ups in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)

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 (heterotopic ossification or HO) 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. Mouse models of FOP have demonstrated the ability of retinoic acid receptor gamma (RARĪ³) agonists such as palovarotene (PVO) to prevent HO following injury. Study PVO-1A-201 as well as up to two new adult subjects were followed for up to 24 months. Subjects who participated under Amendment 1 will be followed for up to an additional 36 months. No new subjects will be enrolled.

NCT02979769
Conditions
  1. Fibrodysplasia
  2. Fibrodysplasia Ossificans Progressiva
Interventions
  1. Drug: Palovarotene dose level 1
  2. Drug: Palovarotene dose level 2
MeSH:Myositis Ossificans

Inclusion Criteria: - Completion of Study PVO-1A-201; or new Adult Cohort subjects with confirmed R206H mutation who (1) have had at least two symptomatic flare-ups in the past 2 years, but no flare-up symptoms within the past 4 weeks; (2) have a Cumulative Analogue Joint Involvement for FOP (CAJIS) score of 6-16 (inclusive); and (3) are able to receive 5 mg palovarotene daily. --- R206H ---

Primary Outcomes

Description: The annualized change from the original protocol, and Amendments 1 and 3, will be compared to data collected from the Natural History Study (NHS).

Measure: Annualized change in new HO volume as assessed by low-dose WBCT scan, excluding head

Time: Annually until the end of study (36 months)

Secondary Outcomes

Measure: Percent of subjects with new HO

Time: baseline, 12, 24, 36 months and overall

Description: Cumulative Analogue Joint Involvement Scale (CAJIS) for FOP assesses functional disability by categorizing range of motion across 12 joints and three body regions with each joint/region assessed as: 0=uninvolved; 1=affected; 2=functionally ankylosed.

Measure: Change from baseline in range of motion (ROM) as assessed by CAJIS

Time: baseline, 6, 12, 18, 24, 30 and 36 months

Measure: Change from baseline in physical function using age-appropriate forms of the FOP-Physical Function Questionnaire (FOP-PFQ)

Time: baseline, 6, 12, 18, 24, 30 and 36 months

3 A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)

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.

NCT02322255
Conditions
  1. Fibrodysplasia Ossificans Progressiva
MeSH:Myositis Ossificans

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 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 Fibrodysplasia Ossificans Progressiva Myositis Ossificans This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. --- R206H ---

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 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 Fibrodysplasia Ossificans Progressiva Myositis Ossificans This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. --- R206H --- --- R206H ---

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 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 Fibrodysplasia Ossificans Progressiva Myositis Ossificans This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. --- R206H --- --- R206H --- --- R206H ---

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 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 Fibrodysplasia Ossificans Progressiva Myositis Ossificans This is a multi-center, natural history, non-interventional, longitudinal study in subjects with classic FOP. --- R206H --- --- R206H --- --- R206H --- --- R206H ---

Primary Outcomes

Measure: 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: Month 36

Secondary Outcomes

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

Time: Month 12, Month 24, and Month 36

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

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

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

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

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

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

Measure: Change from baseline in biomarkers.

Time: Month 12, Month 24, and Month 36

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

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

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

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

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

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

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

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

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

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


HPO Nodes