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This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Children with Hypochondroplasia | Children with Hypochondroplasia |
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| Measure | Description | Time Frame |
|---|---|---|
| Change in annualized growth velocity (AGV) | Every 6 months through end of study, up to 15 years | |
| Change in Height Z-score | Every 6 months through end of study, up to 15 years | |
| Change in Height | Every 6 months through end of study, up to 15 years | |
| Change in BMI | Every 6 months through end of study, up to 15 years | |
| Change in BMI Z-score | Every 6 months through end of study, up to 15 years | |
| Change in ratios of upper to lower body segments | Every 6 months through end of study, up to 15 years | |
| Change in ratios of upper and lower leg length ratio | Every 6 months through end of study, up to 15 years | |
| Change in ratio of arms span to standing height ratio | Every 6 months through end of study, up to 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain | Every 52 weeks through end of study, up to 15 years | |
| Change in Quality of Life in Short Statured Youth (QoLISSY) total score | Every 52 weeks through end of study, up to 15 years |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will include approximately 400 pediatric individuals with hypochondroplasia.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Trial Specialist | Contact | 1-800-983-4587 | medinfo@bmrn.com |
| Name | Affiliation | Role |
|---|---|---|
| Medical Director, MD | BioMarin Pharmaceutical | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Phoenix Children's Hospital | Recruiting | Phoenix | Arizona | 85016 | United States | |
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| Change in patient global impression of severity (PGI-S) | Every 52 weeks through end of study, up to 15 years |
| Change in caregiver global impression of severity (CaGI-S) | Every 52 weeks through end of study, up to 15 years |
| Frequency of event rates of medical events of interest | Every 6 months through end of study, up to 15 years |
| Proportion of children who report use of growth hormone, treatment patterns and impact on growth | Every 6 months through end of study, up to 15 years |
| Proportion of children who report limb lengthening surgery | Every 6 months through end of study, up to 15 years |
| Cedars-Sinai Medical Center |
| Not yet recruiting |
| Los Angeles |
| California |
| 90048 |
| United States |
| UCSF Benioff Children's Hospital | Recruiting | Oakland | California | 94609 | United States |
| Nemours Alfred I. Dupont Hospital for Children | Recruiting | Wilmington | Delaware | 19803 | United States |
| Children's National Health System | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
| Ann & Robert H. Lurie Children's Hospital of Chicago | Recruiting | Chicago | Illinois | 60611 | United States |
| The Johns Hopkins University School of Medicine | Not yet recruiting | Baltimore | Maryland | 21218 | United States |
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
| University of Minnesota Masonic Children's Hospital | Recruiting | Minneapolis | Minnesota | 55454 | United States |
| University of Missouri | Recruiting | Columbia | Missouri | 65212 | United States |
| Washington University School of Medicine in St. Louis | Recruiting | St Louis | Missouri | 63110 | United States |
| Mount Sinai Kravis Children's Hospital | Recruiting | New York | New York | 10029 | United States |
| Akron Children's Hospital | Not yet recruiting | Akron | Ohio | 44307 | United States |
| Nationwide Children's Hospital | Not yet recruiting | Columbus | Ohio | 43205 | United States |
| Cook Children's Endocrinology | Recruiting | Fort Worth | Texas | 76104 | United States |
| Medical College of Wisconsin, Children's Hospital | Recruiting | Milwaukee | Wisconsin | 53226 | United States |
| Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan | Not yet recruiting | Buenos Aires | Argentina |
| Royal Children's Hospital Melbourne | Recruiting | Parkville | Victoria | 3052 | Australia |
| Hospital de Clinicas de Porto Algre | Not yet recruiting | Porto Alegre | Rio Grande Do Sol | Brazil |
| Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto | Not yet recruiting | Ribeirão Preto | São Paulo | Brazil |
| Stollery Children's Hospital | Recruiting | Edmonton | Alberta | Canada |
| SickKids - The Hospital for Sick Children | Recruiting | Toronto | Ontario | Canada |
| Centre Hospitalier Universitaire Sainte-Justine | Not yet recruiting | Montreal | Quebec | Canada |
| Hospices Civils de Lyon - Hôpital Femme Mère Enfant | Recruiting | Lyon | France |
| Hopital de la Timone | Recruiting | Marseille | France |
| Hôpital Necker-Enfants Malades | Recruiting | Paris | France |
| CHU de Toulouse - Hopital des Efants | Recruiting | Toulouse | France |
| Uniklinik Koln | Recruiting | Cologne | Germany |
| Universitatskinderklinik Magdeburg | Recruiting | Magdeburg | Germany |
| Istituto Giannina Gaslini | Recruiting | Genoa | Liguria | Italy |
| Ospedale Pediatrico Bambino Gesù | Not yet recruiting | Roma | Rome | Italy |
| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico | Recruiting | Milan | Italy |
| Fondazione Policlinico Universitario Agostino Gemelli IRCCS | Recruiting | Rome | Italy |
| Kumamoto University Hospital | Recruiting | Kumamoto | Kumamoto | Japan |
| Osaka University Hospital | Recruiting | Suita | Osaka | Japan |
| Tottori University Hospital | Recruiting | Yonago | Tottori | Japan |
| Tokushima University Hospital | Not yet recruiting | Tokushima | Japan |
| Institute of Science Tokyo Hospital | Recruiting | Tokyo | Japan |
| Hospital Universitario La Paz | Recruiting | Madrid | Spain |
| Vithas Hospital San Jose | Recruiting | Vitoria-Gasteiz | Spain |
| Great Ormond Street Hospital for Children NHS Foundation Trust | Recruiting | London | England | United Kingdom |
| Myriad Trials Ltd | Not yet recruiting | London | England | United Kingdom |
| NHS Greater Glasgow and Clyde | Recruiting | Glasgow | Scottland | United Kingdom |
| ID | Term |
|---|---|
| C562937 | Hypochondroplasia |
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