Prospective Clinical Assessment Study in Children With Hypochondroplasia (HCH)

Prospective Clinical Assessment Study in Children With Hypochondroplasia: ACCEL

This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).

Study Overview

• Status: Recruiting
• Conditions: Hypochondroplasia

Detailed Description

The objective is to evaluate growth, HCH-related medical complications, health-related quality of life, functional abilities and cognitive functions of study participants. Data collected will contribute to the characterization of the natural history of children with HCH. No study medication will be administered.

• Study Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: QED Therapeutics, Inc; Phone Number: 1-877-280-5655; Email: medinfo@qedtx.com

Study Locations

• Australia
  • Victoria
    • Parkville, Victoria, Australia, 3052
      • Recruiting
      • Murdoch Children's Research Institute
• Canada
  • Ontario
    • London, Ontario, Canada, N6C 2R5
      • Recruiting
      • London Health Sciences Centre - Children's Hospital of Western Ontario
    • Ottawa, Ontario, Canada, K1H 8L1
      • Recruiting
      • Children's Hospital of Eastern Ontario Research Institute
  • Quebec
    • Montreal, Quebec, Canada, H3T 1C5
      • Recruiting
      • Université de Montréal - Centre Hospitalier Universitaire Sainte-Justine
• France
  • Bron, France, 69677
    • Recruiting
    • Hôpital Femme Mère Enfant HCL
  • Paris, France, 75015
    • Recruiting
    • Hôpital Necker-Enfants Malades
  • Toulouse, France, 31059
    • Recruiting
    • Centre Hospitalier Universitaire (CHU) de Toulouse - Hôpital des Enfants
• Norway
  • Bergen, Norway, 5021
    • Recruiting
    • Haukeland University Hospital
  • Oslo, Norway, 0372
    • Recruiting
    • Paediatric Clinical Research Unit at Oslo University Hospital
• Portugal
  • Coimbra, Portugal, 3000-602
    • Recruiting
    • Hospital Pediátrico de Coimbra
• Singapore
  • Singapore, Singapore, 229899
    • Recruiting
    • KK Women's and Children's Hospital
• Spain
  • Vitoria-Gasteiz, Spain, 01008
    • Recruiting
    • Hospital Vithas San Jose
• Sweden
  • Solna, Sweden, 17164
    • Recruiting
    • Astrid Lindgren Children's Hospital
• United Kingdom
  • England
    • London, England, United Kingdom, W1W 5AH
      • Recruiting
      • The Portland Hospital for Women and Children
    • Manchester, England, United Kingdom, M13 9WL
      • Recruiting
      • Manchester University
    • Sheffield, England, United Kingdom, S10 2TH
      • Recruiting
      • Sheffield Children's NHS Foundation Trust
  • Scotland
    • Glasgow, Scotland, United Kingdom, G51 4TF
      • Recruiting
      • Glasgow Clinical Research Facility, Queen Elizabeth University Hospital
• United States
  • California
    • Oakland, California, United States, 94609
      • Recruiting
      • UCSF Benioff Children's Hospital
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • Childrens Hospital Colorado
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Recruiting
      • Children's National Hospital
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Recruiting
      • Johns Hopkins School of Medicine
  • Missouri
    • Columbia, Missouri, United States, 65201
      • Recruiting
      • University of Missouri
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Recruiting
      • Vanderbilt University Medical Center
  • Wisconsin
    • Madison, Wisconsin, United States, 53705
      • Recruiting
      • University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Children with hypochondroplasia

Description

Inclusion Criteria:

Signed informed consent.

Aged 2.5 to <17 years at study entry.

Diagnosis of HCH documented clinically by the presence of disproportionate short stature and confirmed with a molecular test.

Participants are ambulatory and able to stand without assistance.

Study participants and parent(s), guardian(s), or caregiver(s) are willing and able to comply with study visits and study procedures.

Exclusion Criteria:

Have ACH or short stature condition other than HCH.

In females, having had their menarche. Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening.

Having a clinically significant disease or condition that in view of the investigator or Sponsor will interfere with the evaluation of growth, with study participation or not be in the best interest of the participant.

Clinically significant abnormality in any laboratory test result at screening

Current evidence of corneal or retinal disorders.

Have used any other investigational or approved product or medical device for the treatment of HCH or short stature for ≥ 30 days or with the last dose <6 months before screening.

Have had regular long-term treatment (>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable).

Previous limb-lengthening surgery or guided growth surgery with plates still in place or removed within the 6 months prior to screening.

Having had a fracture of the long bones or spine within 12 months of screening.

History and/or current evidence of extensive ectopic tissue calcification.

History of malignancy.

Concurrent circumstance, disease, or condition that, in the view of the investigator and/or sponsor, would interfere with study participation, and/or would place the participant at high risk for poor compliance with study activities or for not completing the study.

Current participation in any other ongoing clinical study with another sponsor.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Annualized height velocity	up to 3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratio		up to 3 years
Cognitive functions		up to 3 years
HCH-related medical events reported as medical history or NT-AEs		up to 3 years
HCH-related surgical procedures		up to 3 years
Change from BL in the Physical Functioning dimension of the Pediatric Quality of Life Generic Core Scale Short Form.	Scale scores 0-100. Higher score=better Health-Related Quality of Llife	up to 3 years

Other Outcome Measures

Outcome Measure	Time Frame
Change from BL in collagen X marker concentration (ug/L).	up to 3 years

Collaborators and Investigators

• Sponsor: QED Therapeutics, Inc., a Bridgebio company

Study record dates

Study Major Dates

• Study Start (Actual): June 5, 2024
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2026

Study Registration Dates

• First Submitted: May 8, 2024
• First Submitted That Met QC Criteria: May 8, 2024
• First Posted (Actual): May 13, 2024

Study Record Updates

• Last Update Posted (Estimated): October 10, 2025
• Last Update Submitted That Met QC Criteria: October 8, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Keywords: quality of life; bone diseases; growth; dwarfism; genetic diseases; functional abilities; FGFR3; skeletal dysplasia; hypochondroplasia; AGV; congenital; musculoskeletal diseases; endochondral ossification; HCH; shortened proximal limbs; fibroblast growth factor receptor 3; endochondral bone formation; osteochondrodysplasia; disproportionate short stature; annualized growth velocity; annualized height velocity; AHV
• 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; Osteochondrodysplasias; Mucopolysaccharidosis IV; Hypochondroplasia
• Other Study ID Numbers: QBGJ398-004

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