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CompletedNCT04035811Updated Apr 3, 2026

Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

An observational study in Achondroplasia, sponsored by QED Therapeutics, a BridgeBio company. Completed at 32 sites in 11 countries. Open to participants aged 30 Months to 17 Years. Per ClinicalTrials.gov, last updated 2026-04-03.

Sponsored by QED Therapeutics, a BridgeBio company (part of BridgeBio) · Observational

Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
271
Ages
30 Months to 17 Years
Sex
All
01

Study summary

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.

02

Conditions studied

  • Achondroplasia

Keywords

  • Skeletal dysplasia
  • Endochondral ossification
  • Achondroplasia (ACH)
  • Shortened proximal limbs
  • Fibroblast growth factor receptor 3
  • FGFR3
  • Endochondral bone formation
  • Short-limb disproportionate dwarfism
  • Quality of life in achondroplasia
  • Dwarfism
  • Bone diseases
  • Musculoskeletal diseases
  • Osteochondrodysplasia
  • Genetic diseases
  • Inborn
  • Functional abilities
  • Average growth velocity
  • Average height velocity
  • growth
  • Congenital
03

In context

Achondroplasia

47 studies on the registry are indexed under Achondroplasia; 13 are open to participants now.

This study's enrollment of 271 is above the median of 200 across 19 observational studies indexed under Achondroplasia.

Browse Achondroplasia studies →

Lead sponsor

QED Therapeutics, a BridgeBio company is the lead sponsor of 8 studies on the registry; 5 are open to participants now.

Browse QED Therapeutics studies →All BridgeBio studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
30 Months to 17 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

Children with achondroplasia

Eligibility criteria

Key Inclusion Criteria:

  • Signed 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 (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.
Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Corticosteroids (steroids)

Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.

Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.

05

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
271 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Annualized height velocity (cm/year)

    Time frame: Up to 2 years

Other outcomes

  1. Change from baseline in height Z score

    Time frame: Up to 2 years

  2. Change from baseline in upper to lower body ratio (cm)

    Time frame: Up to 2 years

  3. Change from baseline in upper arm to forearm ratio (cm)

    Time frame: Up to 2 years

  4. Change from baseline in upper leg to lower leg ratio (cm)

    Time frame: Up to 2 years

  5. Bone biomarkers (blood)

    Time frame: Up to 2 years

  6. ACH-related NT-AEs

    Time frame: Up to 2 years

  7. ACH-related surgical procedures

    Time frame: Up to 2 years

  8. Changes in health-related quality of life as assessed by Pediatric Quality of Life Inventory (PedsQoL)

    Time frame: Up to 2 years

  9. Changes in health-related quality of life as assessed by Quality of Life in Short Stature Youth questionnaire (QoLISSY)

    Time frame: Up to 2 years

  10. Changes in overall body pain as assessed by Numeric Rating Scale for pain (Pain-NRS)

    Time frame: Up to 2 years

  11. Changes in functional abilities as evaluated by Functional Independence Measure for Children (WeeFIM)

    Time frame: Up to 2 years

  12. Change in psychomotor function assessed by age-appropriate computerized tests (Detection Test)

    Time frame: Up to 2 years

  13. Change in attention assessed by age-appropriate computerized tests (Identification Test)

    Time frame: Up to 2 years

  14. Change in visual learning assessed by age-appropriate computerized tests (One Card Learning Test)

    Time frame: Up to 2 years

  15. Change in working memory assessed by age-appropriate computerized tests (One Back Test)

    Time frame: Up to 2 years

07

Study locations

32 sites
  • Benioff Children's Hospital Oakland
    Oakland, California 94609, United States
  • Children's Hospital Colorado
    Aurora, Colorado 80045, United States
  • Nemours Alfred I. Dupont Hospital for Children
    Wilmington, Delaware 19803, United States
  • Johns Hopkins School of Medicine
    Baltimore, Maryland 21211, United States
  • University of Missouri
    Columbia, Missouri 65211, United States
  • Cincinnati Children's Hospital
    Cincinnati, Ohio 45229, United States
  • Vanderbilt University Medical Center
    Nashville, Tennessee 37232, United States
  • University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic
    Madison, Wisconsin 53705, United States
  • Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan
    Buenos Aires, Argentina
  • Murdoch Children's Research Institute
    Parkville, Australia
  • Stollery Children's Hospital
    Edmonton, Alberta T6G 2H7, Canada
  • Children's Hospital - London Health Sciences Center
    London, Ontario N6A 5W9, Canada
  • University of Ottawa
    Ottawa, Ontario K1N 6N5, Canada
  • University of Montreal
    Montreal, Quebec H3C 3J7, Canada
  • Hopital Femme Mere Enfant
    Lyon, France
  • Hopital Necker-Enfants Malades
    Paris, France
  • Hopital des Enfants
    Toulouse, France
  • Otto-von-Guericke-University Magdeburg Medical Fakulty
    Magdeburg, 39120, Germany
  • Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlino
    Milan, 20122, Italy
  • Rare Disease Unit Fondazione Policlinico A Gemelli IRCCS
    Rome, 00168, Italy
  • Haukeland Universitetssjukehus
    Bergen, 5009, Norway
  • Oslo Universitetssykehus
    Oslo, 0372, Norway
  • KK Women's and Children's Hospital
    Singapore, 229899, Singapore
  • Vithas Hospital San Jose
    Barcelona, 08305, Spain
  • Hospital Universitario La Paz
    Madrid, 24086, Spain
  • Hospital Universitario Virgen de la Victoria
    Málaga, Spain
  • Bristol Royal Hospital for Children
    Bristol, England, United Kingdom
  • Birmingham Children's Hospital
    Birmingham, United Kingdom
  • Queen Elizabeth University Hospital
    Glasgow, United Kingdom
  • St. Thomas' Hospital
    London, United Kingdom
  • Manchester University Children's Hospital
    Manchester, United Kingdom
  • Sheffield Children's Hospital
    Sheffield, United Kingdom
08

References and documents

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. PubMed 35342457 ↗

Related links

Individual participant data

Plan to share: No

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Ran from Aug 2019 to primary completion in Aug 2025, 72 months.

How these figures are worked out, and which studies are left out of them.

Registered
Jul 20, 2019
First posted
Jul 29, 2019
StartActual
Aug 12, 2019
Primary completionActual
Aug 27, 2025
CompletionActual
Aug 27, 2025
Last update
Apr 3, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Apr 3, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04035811
Lead sponsor
QED Therapeutics, a BridgeBio company
Responsible party
Sponsor
First posted
Jul 29, 2019
Start date
Aug 12, 2019
Primary completion
Aug 27, 2025
Completion
Aug 27, 2025
Last update
Apr 3, 2026

Study contacts

QED Therapeutics, Inc. VP, Clinical Development
study director · QED Therapeutics

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.

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