Prospective Clinical Assessment Study in Children with Hypochondroplasia
- Conditions
- Hypochondroplasia
- Registration Number
- NCT06410976
- Lead Sponsor
- QED Therapeutics, Inc.
- Brief Summary
This is a long-term, multicenter, non-interventional study of children ages 2.5 to \<17 years with hypochondroplasia (HCH).
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 150
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.
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
Have been treated with growth hormone, IGF 1, or anabolic steroids the previous 6 months or long-term treatment (>3 months) at any time.
Current evidence of corneal or retinal disorders.
Have used any other investigational product or investigational medical device for the treatment of HCH or short stature.
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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Annualized height velocity up to 2 years
- Secondary Outcome Measures
Name Time Method Cognitive functions up to 2 years Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratio up to 2 years HCH-related medical events reported as medical history or NT-AEs up to 2 years HCH-related surgical procedures up to 2 years Change from BL in the Physical Functioning dimension of the Pediatric Quality of Life Generic Core Scale Short Form. up to 2 years Scale scores 0-100. Higher score=better Health-Related Quality of Llife
Trial Locations
- Locations (25)
Hôpital Universitaire Necker-Enfants Malades
🇫🇷Paris, France
Centre Hospitalier Universitaire (CHU) de Toulouse - Hôpital des Enfants
🇫🇷Toulouse, France
University Hospital Freiburg - Centre for Paediatric and Adolescent Medicine
🇩🇪Freiburg, Baden-Wurtemberg, Germany
Otto Von Guericke Universitat
🇩🇪Magdeburg, Sachsen-Anhalt, Germany
UCSF Benioff Children's Hospital
🇺🇸Oakland, California, United States
University of Missouri
🇺🇸Columbia, Missouri, United States
Childrens Hospital Colorado
🇺🇸Aurora, Colorado, United States
Children's National Hospital
🇺🇸Washington DC, District of Columbia, United States
Johns Hopkins School of Medicine
🇺🇸Baltimore, Maryland, United States
Vanderbilt University Medical Center
🇺🇸Nashville, Tennessee, United States
University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic
🇺🇸Madison, Wisconsin, United States
Murdoch Children's Research Institute
🇦🇺Parkville, Victoria, Australia
London Health Sciences Centre - Children's Hospital of Western Ontario
🇨🇦London, Ontario, Canada
Children's Hospital of Eastern Ontario Research Institute
🇨🇦Ottawa, Ontario, Canada
Hôpital Femme Mère Enfant
🇫🇷Bron, France
Université de Montréal - Centre Hospitalier Universitaire Sainte-Justine
🇨🇦Montréal, Quebec, Canada
Haukeland University Hospital
🇳🇴Bergen, Norway
Paediatric Clinical Research Unit at Oslo University Hospital
🇳🇴Oslo, Norway
Hospital Pediátrico de Coimbra
🇵🇹Coimbra, Portugal
KK Women's and Children's Hospital
🇸🇬Singapore, Singapore
Hospital Vithas San Jose
🇪🇸Vitoria-gasteiz, Spain
Astrid Lindgren Children's Hospital
🇸🇪Solna, Sweden
Manchester University
🇬🇧Manchester, United Kingdom
The Portland Hospital for Women and Children
🇬🇧London, United Kingdom
Sheffield Children's Hospital
🇬🇧Sheffield, United Kingdom