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This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Annualized height velocity | up to 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| Change over time in height Z-score, upper arm to forearm ratio, and upper leg to lower leg ratio | up to 3 years | |
| Cognitive functions | up to 3 years | |
| HCH-related medical events reported as medical history or NT-AEs |
| Measure | Description | Time Frame |
|---|---|---|
| Change from BL in collagen X marker concentration (ug/L). | up to 3 years |
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
Current evidence of corneal or retinal disorders.
Have used any other investigational or approved product or medical device for the treatment of HCH or short stature for ≥ 30 days or with the last dose <6 months before screening.
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.
Current participation in any other ongoing clinical study with another sponsor.
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Children with hypochondroplasia
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| QED Therapeutics, Inc | Contact | 1-877-280-5655 | medinfo@qedtx.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UCSF Benioff Children's Hospital | Recruiting | Oakland | California | 94609 | United States | |
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Collect blood for central assessment of blood biomarkers
| up to 3 years |
| HCH-related surgical procedures | up to 3 years |
| Change from BL in the Physical Functioning dimension of the Pediatric Quality of Life Generic Core Scale Short Form. | Scale scores 0-100. Higher score=better Health-Related Quality of Llife | up to 3 years |
| Childrens Hospital Colorado |
| Recruiting |
| Aurora |
| Colorado |
| 80045 |
| United States |
| Children's National Hospital | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
| Johns Hopkins School of Medicine | Recruiting | Baltimore | Maryland | 21287 | United States |
| University of Missouri | Recruiting | Columbia | Missouri | 65201 | United States |
| Cincinnati Children's Hospital Medical Center | Recruiting | Cincinnati | Ohio | 45229 | United States |
| Vanderbilt University Medical Center | Recruiting | Nashville | Tennessee | 37232 | United States |
| University of Wisconsin Madison - Waisman Center Bone Dysplasia Clinic | Recruiting | Madison | Wisconsin | 53705 | United States |
| Murdoch Children's Research Institute | Recruiting | Parkville | Victoria | 3052 | Australia |
| London Health Sciences Centre - Children's Hospital of Western Ontario | Recruiting | London | Ontario | N6C 2R5 | Canada |
| Children's Hospital of Eastern Ontario Research Institute | Recruiting | Ottawa | Ontario | K1H 8L1 | Canada |
| Université de Montréal - Centre Hospitalier Universitaire Sainte-Justine | Recruiting | Montreal | Quebec | H3T 1C5 | Canada |
| Hôpital Femme Mère Enfant HCL | Recruiting | Bron | 69677 | France |
| Hôpital Necker-Enfants Malades | Recruiting | Paris | 75015 | France |
| Centre Hospitalier Universitaire (CHU) de Toulouse - Hôpital des Enfants | Recruiting | Toulouse | 31059 | France |
| Haukeland University Hospital | Recruiting | Bergen | 5021 | Norway |
| Paediatric Clinical Research Unit at Oslo University Hospital | Recruiting | Oslo | 0372 | Norway |
| Hospital Pediátrico de Coimbra | Recruiting | Coimbra | 3000-602 | Portugal |
| KK Women's and Children's Hospital | Recruiting | Singapore | 229899 | Singapore |
| Hospital Vithas San Jose | Recruiting | Vitoria-Gasteiz | 01008 | Spain |
| Astrid Lindgren Children's Hospital | Recruiting | Solna | 17164 | Sweden |
| The Portland Hospital for Women and Children | Recruiting | London | England | W1W 5AH | United Kingdom |
| Manchester University | Recruiting | Manchester | England | M13 9WL | United Kingdom |
| Sheffield Children's NHS Foundation Trust | Recruiting | Sheffield | England | S10 2TH | United Kingdom |
| Glasgow Clinical Research Facility, Queen Elizabeth University Hospital | Recruiting | Glasgow | Scotland | G51 4TF | United Kingdom |
| ID | Term |
|---|---|
| C562937 | Hypochondroplasia |
| D009085 | Mucopolysaccharidosis IV |
| D004392 | Dwarfism |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D010009 | Osteochondrodysplasias |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D001848 | Bone Diseases, Developmental |
| D004700 | Endocrine System Diseases |
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