Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial

This is a long-term, multi-center, observational study in children 2.5 to <17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life, body pain, functional abilities, cognitive functions, and treatments of study participants. No study medication will be administered.

Study Overview

• Status: Completed
• Conditions: Achondroplasia

• Study Type: Observational
• Enrollment (Actual): 271

Contacts and Locations

Study Locations

• Argentina
  • Buenos Aires, Argentina
    • Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan
• Australia
  • Parkville, Australia
    • Murdoch Children's Research Institute
• Canada
  • Alberta
    • Edmonton, Alberta, Canada, T6G 2H7
      • Stollery Children's Hospital
  • Ontario
    • London, Ontario, Canada, N6A 5W9
      • Children's Hospital - London Health Sciences Center
    • Ottawa, Ontario, Canada, K1N 6N5
      • University of Ottawa
  • Quebec
    • Montreal, Quebec, Canada, H3C 3J7
      • University of Montreal
• France
  • Lyon, France
    • Hôpital Femme Mère Enfant
  • Paris, France
    • Hôpital Necker-Enfants Malades
  • Toulouse, France
    • Hopital Des Enfants
• Germany
  • Magdeburg, Germany, 39120
    • Otto-von-Guericke-University Magdeburg Medical Fakulty
• Italy
  • Milan, Italy, 20122
    • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlino
  • Rome, Italy, 00168
    • Rare Disease Unit Fondazione Policlinico A Gemelli IRCCS
• Norway
  • Bergen, Norway, 5009
    • Haukeland Universitetssjukehus
  • Oslo, Norway, 0372
    • Oslo Universitetssykehus
• Singapore
  • Singapore, Singapore, 229899
    • KK Women's and Children's Hospital
• Spain
  • Barcelona, Spain, 08305
    • Vithas Hospital San Jose
  • Madrid, Spain, 24086
    • Hospital Universitario La Paz
  • Málaga, Spain
    • Hospital Universitario Virgen de la Victoria
• United Kingdom
  • Birmingham, United Kingdom
    • Birmingham Children's Hospital
  • Glasgow, United Kingdom
    • Queen Elizabeth University Hospital
  • London, United Kingdom
    • St. Thomas' Hospital
  • Manchester, United Kingdom
    • Manchester University Children's Hospital
  • Sheffield, United Kingdom
    • Sheffield Children's Hospital
  • England
    • Bristol, England, United Kingdom
      • Bristol Royal Hospital for Children
• United States
  • California
    • Oakland, California, United States, 94609
      • Benioff Children's Hospital Oakland
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Children's Hospital Colorado
  • Delaware
    • Wilmington, Delaware, United States, 19803
      • Nemours Alfred I. Dupont Hospital for Children
  • Maryland
    • Baltimore, Maryland, United States, 21211
      • Johns Hopkins School of Medicine
  • Missouri
    • Columbia, Missouri, United States, 65211
      • University of Missouri
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Vanderbilt University Medical Center
  • Wisconsin
    • Madison, Wisconsin, United States, 53705
      • University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 11 months to 6 years (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Children with achondroplasia

Description

Key Inclusion Criteria:

• Signed informed consent by study participant or parent(s) or legally authorized representative (LAR) and signed informed assent by the study participant (when applicable)
• Aged 2.5 to <17 years at study entry
• Diagnosis of ACH
• Study participants and parent(s) or LAR(s) are willing and able to comply with study visits and study procedures

Key Exclusion Criteria:

• Have hypochondroplasia or short stature condition other than ACH (e.g. trisomy 21, pseudoachondroplasia, psychosocial short stature)
• In females, having had their menarche
• Height < -2 or > +2 standard deviations for age and sex based on reference tables on growth in children with ACH
• Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening
• Current evidence of corneal or retinal disorder/keratopathy
• Current evidence of endocrine alterations of calcium/phosphorus homeostasis
• Have a concurrent disease or condition that in the view of the Investigator and/or Sponsor, may impact growth or where the treatment is known to impact growth.
• Significant abnormality in screening laboratory results.
• Have been treated with growth hormone, insulin-like growth factor 1 (IGF 1), or anabolic steroids in the previous 6 months or long-term treatment (>3 months) at any time
• Have had regular long-term treatment (>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable)
• Have had previous guided growth surgery or limb-lengthening surgery within 12 months prior to screening.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Annualized height velocity (cm/year)	Up to 2 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Collection of natural history of achondroplasia symptoms in children with achondroplasia	Up to 2 years
To characterize achondroplasia symptoms in children with achondroplasia	Up to 2 years

Other Outcome Measures

Outcome Measure	Time Frame
Change from baseline in height Z score	Up to 2 years
ACH-related NT-AEs	Up to 2 years
ACH-related surgical procedures	Up to 2 years
Changes in health-related quality of life as assessed by Pediatric Quality of Life Inventory (PedsQoL)	Up to 2 years
Changes in overall body pain as assessed by Numeric Rating Scale for pain (Pain-NRS)	Up to 2 years
Changes in functional abilities as evaluated by Functional Independence Measure for Children (WeeFIM)	Up to 2 years
Change in psychomotor function assessed by age-appropriate computerized tests (Detection Test)	Up to 2 years
Change in attention assessed by age-appropriate computerized tests (Identification Test)	Up to 2 years
Change in visual learning assessed by age-appropriate computerized tests (One Card Learning Test)	Up to 2 years
Change in working memory assessed by age-appropriate computerized tests (One Back Test)	Up to 2 years
Change from baseline in upper to lower body ratio (cm)	Up to 2 years
Change from baseline in upper arm to forearm ratio (cm)	Up to 2 years
Change from baseline in upper leg to lower leg ratio (cm)	Up to 2 years
Bone biomarkers (blood)	Up to 2 years
Changes in health-related quality of life as assessed by Quality of Life in Short Stature Youth questionnaire (QoLISSY)	Up to 2 years

Collaborators and Investigators

• Sponsor: QED Therapeutics, a BridgeBio company
• Investigators: Study Director: QED Therapeutics, Inc. VP, Clinical Development, QED Therapeutics

Publications and helpful links

General Publications

• Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J 3rd, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Ther Adv Musculoskelet Dis. 2022 Mar 21;14:1759720X221084848. doi: 10.1177/1759720X221084848. eCollection 2022.

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): August 12, 2019
• Primary Completion (Actual): August 27, 2025
• Study Completion (Actual): August 27, 2025

Study Registration Dates

• First Submitted: July 20, 2019
• First Submitted That Met QC Criteria: July 24, 2019
• First Posted (Actual): July 29, 2019

Study Record Updates

• Last Update Posted (Actual): April 3, 2026
• Last Update Submitted That Met QC Criteria: March 30, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: growth; FGFR3; Genetic diseases; Congenital; Inborn; Dwarfism; Skeletal dysplasia; Endochondral ossification; Shortened proximal limbs; Fibroblast growth factor receptor 3; Endochondral bone formation; Short-limb disproportionate dwarfism; Musculoskeletal diseases; Osteochondrodysplasia; Bone diseases; Functional abilities; Achondroplasia (ACH); Quality of life in achondroplasia; Average growth velocity; Average height velocity
• Additional Relevant MeSH Terms: Endocrine System Diseases; Metabolism, Inborn Errors; Metabolic Diseases; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Bone Diseases, Developmental; Mucopolysaccharidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Dwarfism; Achondroplasia; Osteochondrodysplasias; Mucopolysaccharidosis IV
• Other Study ID Numbers: QBGJ398-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No