Prospective Clinical Assessment Study in Children With Hypochondroplasia

NCT06410976 | Recruiting

• 1 other identifier: QBGJ398-004
• Study Type: observational
• Target: 150
• Locations: 10 countries
• Sites: 25

Brief Summary

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

Conditions

Hypochondroplasia

Keywords

skeletal dysplasia; endochondral ossification; hypochondroplasia; HCH; shortened proximal limbs; fibroblast growth factor receptor 3; FGFR3; endochondral bone formation; disproportionate short stature; quality of life; dwarfism; bone diseases; musculoskeletal diseases; osteochondrodysplasia; functional abilities; annualized growth velocity; annualized height velocity; growth; genetic diseases; congenital; AHV; AGV

Outcome Measures

Primary Outcomes (1)

• Annualized height velocity

  up to 3 years

Secondary Outcomes (5)

• 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.

  up to 3 years

Other Outcomes (1)

• Change from BL in collagen X marker concentration (ug/L).

  up to 3 years

Eligibility Criteria

• Age: 30 Months - 16 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Children with hypochondroplasia

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• QED Therapeutics, a BridgeBio company: lead

Study Sites (25)

UCSF Benioff Children's Hospital

Oakland, California, 94609, United States

RECRUITING

Childrens Hospital Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Johns Hopkins School of Medicine

Baltimore, Maryland, 21287, United States

RECRUITING

University of Missouri

Columbia, Missouri, 65201, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

RECRUITING

University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic

Madison, Wisconsin, 53705, United States

RECRUITING

Murdoch Children's Research Institute

Parkville, Victoria, 3052, Australia

RECRUITING

London Health Sciences Centre - Children's Hospital of Western Ontario

London, Ontario, N6C 2R5, Canada

RECRUITING

Children's Hospital of Eastern Ontario Research Institute

Ottawa, Ontario, K1H 8L1, Canada

RECRUITING

Université de Montréal - Centre Hospitalier Universitaire Sainte-Justine

Montreal, Quebec, H3T 1C5, Canada

RECRUITING

Hôpital Femme Mère Enfant HCL

Bron, 69677, France

RECRUITING

Hôpital Necker-Enfants Malades

Paris, 75015, France

RECRUITING

Centre Hospitalier Universitaire (CHU) de Toulouse - Hôpital des Enfants

Toulouse, 31059, France

RECRUITING

Haukeland University Hospital

Bergen, 5021, Norway

RECRUITING

Paediatric Clinical Research Unit at Oslo University Hospital

Oslo, 0372, Norway

RECRUITING

Hospital Pediátrico de Coimbra

Coimbra, 3000-602, Portugal

RECRUITING

KK Women's and Children's Hospital

Singapore, 229899, Singapore

RECRUITING

Hospital Vithas San Jose

Vitoria-Gasteiz, 01008, Spain

RECRUITING

Astrid Lindgren Children's Hospital

Solna, 17164, Sweden

RECRUITING

The Portland Hospital for Women and Children

London, England, W1W 5AH, United Kingdom

RECRUITING

Manchester University

Manchester, England, M13 9WL, United Kingdom

RECRUITING

Sheffield Children's NHS Foundation Trust

Sheffield, England, S10 2TH, United Kingdom

RECRUITING

Glasgow Clinical Research Facility, Queen Elizabeth University Hospital

Glasgow, Scotland, G51 4TF, United Kingdom

RECRUITING

Biospecimen

Retention: NONE RETAINED

Collect blood for central assessment of blood biomarkers

MeSH Terms

Conditions

Hypochondroplasia; Mucopolysaccharidosis IV; Dwarfism; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Bone Diseases, Developmental; Endocrine System Diseases

Central Study Contacts

QED Therapeutics, Inc

CONTACT

1-877-280-5655; medinfo@qedtx.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 8, 2024
• First Posted: May 13, 2024
• Study Start: June 5, 2024
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: October 10, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3); SG (1); CA (3); ES (1); SE (1); GB (4); NO (2); US (8); PT (1); AU (1)