Clinical trial NCT06410976: Prospective Clinical Assessment Study in Children With Hypochondroplasia
Official title: Prospective Clinical Assessment Study in Children With Hypochondroplasia: ACCEL
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: QED Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2024-05-13
Enrollment: 150
Sex: ALL
Minimum age (years): 30
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Children with hypochondroplasia

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.

Eligibility criteria: 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

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.

Primary outcomes:
measure: Annualized height velocity
timeFrame: up to 2 years
Secondary outcomes:
measure: Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratio
timeFrame: up to 2 years
measure: Cognitive functions
timeFrame: up to 2 years
measure: HCH-related medical events reported as medical history or NT-AEs
timeFrame: up to 2 years
measure: HCH-related surgical procedures
timeFrame: up to 2 years
measure: Change from BL in the Physical Functioning dimension of the Pediatric Quality of Life Generic Core Scale Short Form.
timeFrame: up to 2 years
Other outcomes:
measure: Change from BL in collagen X marker concentration (ug/L).
timeFrame: up to 2 years
Locations:
city: Oakland
country: United States
facility: UCSF Benioff Children's Hospital
state: California
city: Aurora
country: United States
facility: Childrens Hospital Colorado
state: Colorado
city: Washington
country: United States
facility: Children's National Hospital
state: District of Columbia
city: Baltimore
country: United States
facility: Johns Hopkins School of Medicine
state: Maryland
city: Columbia
country: United States
facility: University of Missouri
state: Missouri
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
city: Madison
country: United States
facility: University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic
state: Wisconsin
city: Parkville
country: Australia
facility: Murdoch Children's Research Institute
state: Victoria
city: London
country: Canada
facility: London Health Sciences Centre - Children's Hospital of Western Ontario
state: Ontario
city: Ottawa
country: Canada
facility: Children's Hospital of Eastern Ontario Research Institute
state: Ontario
city: Montréal
country: Canada
facility: Université de Montréal - Centre Hospitalier Universitaire Sainte-Justine
state: Quebec
city: Bron
country: France
facility: Hôpital Femme Mère Enfant HCL
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Toulouse
country: France
facility: Centre Hospitalier Universitaire (CHU) de Toulouse - Hôpital des Enfants
city: Bergen
country: Norway
facility: Haukeland University Hospital
city: Oslo
country: Norway
facility: Paediatric Clinical Research Unit at Oslo University Hospital
city: Coimbra
country: Portugal
facility: Hospital Pediátrico de Coimbra
city: Singapore
country: Singapore
facility: KK Women's and Children's Hospital
city: Vitoria-gasteiz
country: Spain
facility: Hospital Vithas San Jose
city: Solna
country: Sweden
facility: Astrid Lindgren Children's Hospital
city: London
country: United Kingdom
facility: The Portland Hospital for Women and Children
state: England
city: Manchester
country: United Kingdom
facility: Manchester University
state: England
city: Sheffield
country: United Kingdom
facility: Sheffield Children's NHS Foundation Trust
state: England
city: Glasgow
country: United Kingdom
facility: Glasgow Clinical Research Facility, Queen Elizabeth University Hospital
state: Scotland
Study officials:
References: