Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

Active, not recruiting

• Conditions: Achondroplasia

• Registration Number: NCT04035811
• Lead Sponsor: QED Therapeutics, Inc.

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2019-07-20
• Study First Submitted QC: 2019-07-24
• Study First Posted: 2019-07-29
• Study Start: 2019-08-12
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-08
• Last Update Posted: 2025-04-11
• Primary Completion: 2026-06
• Study Completion: 2026-06

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 271

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Annualized height velocity (cm/year)	Up to 2 years

Trial Locations

Locations (32)

University of Montreal; 🇨🇦 Montréal, Quebec, 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, Germany

Manchester University Children's Hospital; 🇬🇧 Manchester, United Kingdom

Sheffield Children's Hospital; 🇬🇧 Sheffield, United Kingdom

Benioff Children's Hospital Oakland; 🇺🇸 Oakland, California, United States

Children's Hospital Colorado; 🇺🇸 Aurora, Colorado, United States

Nemours Alfred I. Dupont Hospital for Children; 🇺🇸 Wilmington, Delaware, United States

Johns Hopkins School of Medicine; 🇺🇸 Baltimore, Maryland, United States

University of Missouri; 🇺🇸 Columbia, Missouri, United States

Cincinnati Children's Hospital; 🇺🇸 Cincinnati, Ohio, United States

Vanderbilt University Medical Center; 🇺🇸 Nashville, Tennessee, United States

University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic; 🇺🇸 Madison, Wisconsin, 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, Canada

Children's Hospital - London Health Sciences Center; 🇨🇦 London, Ontario, Canada

University of Ottawa; 🇨🇦 Ottawa, Ontario, Canada

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlino; 🇮🇹 Milan, Italy

Rare Disease Unit Fondazione Policlinico A Gemelli IRCCS; 🇮🇹 Rome, Italy

Haukeland Universitetssjukehus; 🇳🇴 Bergen, Norway

Oslo Universitetssykehus; 🇳🇴 Oslo, Norway

KK Women's and Children's Hospital; 🇸🇬 Singapore, Singapore

Vithas Hospital San Jose; 🇪🇸 Barcelona, Spain

Hospital Universitario La Paz; 🇪🇸 Madrid, 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