Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

NCT04035811 | Active Not Recruiting

• 1 other identifier: QBGJ398-001
• Study Type: observational
• Target: 271
• Locations: 11 countries
• Sites: 32

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• Annualized height velocity (cm/year)

  Up to 2 years

Other Outcomes (15)

• Change from baseline in height Z score

  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

Eligibility Criteria

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

Study Population

Children with achondroplasia

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• QED Therapeutics, a BridgeBio company: lead

Study Sites (32)

Benioff Children's Hospital Oakland

Oakland, California, 94609, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Nemours Alfred I. Dupont Hospital for Children

Wilmington, Delaware, 19803, United States

Location

Johns Hopkins School of Medicine

Baltimore, Maryland, 21211, United States

Location

University of Missouri

Columbia, Missouri, 65211, United States

Location

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic

Madison, Wisconsin, 53705, United States

Location

Hospital de Pediatría SAMIC Prof. Dr. Juan P. Garrahan

Buenos Aires, Argentina

Location

Murdoch Children's Research Institute

Parkville, Australia

Location

Stollery Children's Hospital

Edmonton, Alberta, T6G 2H7, Canada

Location

Children's Hospital - London Health Sciences Center

London, Ontario, N6A 5W9, Canada

Location

University of Ottawa

Ottawa, Ontario, K1N 6N5, Canada

Location

University of Montreal

Montreal, Quebec, H3C 3J7, Canada

Location

Hopital Femme Mere Enfant

Lyon, France

Location

Hopital Necker-Enfants Malades

Paris, France

Location

Hopital des Enfants

Toulouse, France

Location

Otto-von-Guericke-University Magdeburg Medical Fakulty

Magdeburg, 39120, Germany

Location

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlino

Milan, 20122, Italy

Location

Rare Disease Unit Fondazione Policlinico A Gemelli IRCCS

Rome, 00168, Italy

Location

Haukeland Universitetssjukehus

Bergen, 5009, Norway

Location

Oslo Universitetssykehus

Oslo, 0372, Norway

Location

KK Women's and Children's Hospital

Singapore, 229899, Singapore

Location

Vithas Hospital San Jose

Barcelona, 08305, Spain

Location

Hospital Universitario La Paz

Madrid, 24086, Spain

Location

Hospital Universitario Virgen de la Victoria

Málaga, Spain

Location

Bristol Royal Hospital for Children

Bristol, England, United Kingdom

Location

Birmingham Children's Hospital

Birmingham, United Kingdom

Location

Queen Elizabeth University Hospital

Glasgow, United Kingdom

Location

St. Thomas' Hospital

London, United Kingdom

Location

Manchester University Children's Hospital

Manchester, United Kingdom

Location

Sheffield Children's Hospital

Sheffield, United Kingdom

Location

Related Publications (1)

• 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.

  PMID: 35342457 DERIVED

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

Collect blood for central assessment of blood biomarkers

MeSH Terms

Conditions

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

Condition Hierarchy (Ancestors)

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

Study Officials

• QED Therapeutics, Inc. VP, Clinical Development

  QED Therapeutics

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: July 20, 2019
• First Posted: July 29, 2019
• Study Start: August 12, 2019
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: April 11, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

AU (1); CA (4); FR (3); DE (1); NO (2); SG (1); ES (3); GB (6); IT (2); AR (1); US (8)