MedPath

Prospective Clinical Assessment Study in Children With Hypochondroplasia

Recruiting
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
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 โ‰ค1.5 cm/year over a period โ‰ฅ6 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
NameTimeMethod
Annualized height velocityup to 2 years
Secondary Outcome Measures
NameTimeMethod
Cognitive functionsup to 2 years
Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratioup to 2 years
HCH-related medical events reported as medical history or NT-AEsup to 2 years
HCH-related surgical proceduresup 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)

Hรดpital Necker-Enfants Malades

๐Ÿ‡ซ๐Ÿ‡ท

Paris, France

Hรดpital Femme Mรจre Enfant HCL

๐Ÿ‡ซ๐Ÿ‡ท

Bron, France

Sheffield Children's NHS Foundation Trust

๐Ÿ‡ฌ๐Ÿ‡ง

Sheffield, United Kingdom

UCSF Benioff Children's Hospital

๐Ÿ‡บ๐Ÿ‡ธ

Oakland, California, United States

Childrens Hospital Colorado

๐Ÿ‡บ๐Ÿ‡ธ

Aurora, Colorado, United States

Children's National Hospital

๐Ÿ‡บ๐Ÿ‡ธ

Washington DC, District of Columbia, United States

Johns Hopkins School of Medicine

๐Ÿ‡บ๐Ÿ‡ธ

Baltimore, Maryland, United States

University of Missouri

๐Ÿ‡บ๐Ÿ‡ธ

Columbia, Missouri, United States

Vanderbilt University Medical Center

๐Ÿ‡บ๐Ÿ‡ธ

Nashville, Tennessee, United States

University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic

๐Ÿ‡บ๐Ÿ‡ธ

Madison, Wisconsin, United States

Murdoch Children's Research Institute

๐Ÿ‡ฆ๐Ÿ‡บ

Parkville, Victoria, Australia

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

๐Ÿ‡จ๐Ÿ‡ฆ

London, Ontario, Canada

Children's Hospital of Eastern Ontario Research Institute

๐Ÿ‡จ๐Ÿ‡ฆ

Ottawa, Ontario, Canada

Universitรฉ de Montrรฉal - Centre Hospitalier Universitaire Sainte-Justine

๐Ÿ‡จ๐Ÿ‡ฆ

Montrรฉal, Quebec, Canada

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

๐Ÿ‡ซ๐Ÿ‡ท

Toulouse, France

University Hospital Freiburg - Centre for Paediatric and Adolescent Medicine

๐Ÿ‡ฉ๐Ÿ‡ช

Freiburg, Baden-Wurtemberg, Germany

Otto Von Guericke Universitat

๐Ÿ‡ฉ๐Ÿ‡ช

Magdeburg, Sachsen-Anhalt, Germany

Haukeland University Hospital

๐Ÿ‡ณ๐Ÿ‡ด

Bergen, Norway

Paediatric Clinical Research Unit at Oslo University Hospital

๐Ÿ‡ณ๐Ÿ‡ด

Oslo, Norway

Hospital Pediaฬtrico de Coimbra

๐Ÿ‡ต๐Ÿ‡น

Coimbra, Portugal

KK Women's and Children's Hospital

๐Ÿ‡ธ๐Ÿ‡ฌ

Singapore, Singapore

Hospital Vithas San Jose

๐Ÿ‡ช๐Ÿ‡ธ

Vitoria-gasteiz, Spain

Astrid Lindgren Children's Hospital

๐Ÿ‡ธ๐Ÿ‡ช

Solna, Sweden

The Portland Hospital for Women and Children

๐Ÿ‡ฌ๐Ÿ‡ง

London, United Kingdom

Manchester University

๐Ÿ‡ฌ๐Ÿ‡ง

Manchester, United Kingdom

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