Clinical trial NCT03794609: Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.
Official title: An International, Prospective Registry Investigating the Natural History of Participants With Achondroplasia
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Achondroplasia
Lead sponsor: Pfizer
Sponsor class: INDUSTRY
First posted: 2019-01-07
Enrollment: 315
Sex: ALL
Minimum age (years): 0
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: It is assumed that each of the study sites will enroll approximately 10-15 children of both genders and of various ages (0-10 years old).

The total number of children planned to be enrolled across all sites is approximately 200.

Brief summary: This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, \& treatments

Children's information will be collected in the registry for a maximum of 5 years.


Eligibility criteria: Inclusion Criteria:

1. Written informed consent is obtained from the children's parent(s) / legal guardian(s) before any study-related activity is carried out
2. The child is able to provide written informed assent, where this is required according to national legislation, before any study related activity is carried out
3. The child has been diagnosed as having achondroplasia documented by clinical diagnosis
4. The child is between 0 years and 10 years of age, inclusive, on the date of consent / assent
5. The investigator has considered the family and prospective participating child being able to comply with the study procedures

Exclusion Criteria:

1. The child has a diagnosis of hypochondroplasia or any short stature condition other than achondroplasia (eg, spondyloepiphyseal dysplasia congenital \[SEDC\], pseudoachondroplasia, trisomy 21)
2. The child has any medical condition that may impact growth or where the treatment is known to impact growth, such as but not limited to hypothyroidism or hyperthyroidism, insulin-requiring diabetes mellitus, autoimmune inflammatory disease (including celiac disease, systemic lupus erythematosus \[SLE\], juvenile dermatomyositis, scleroderma, and others), autonomic neuropathy, or inflammatory bowel disease
3. Treatment in the previous 12 months prior to consent and assent with growth hormone, insulin-like growth factor 1 (IGF-1), anabolic steroids, or any other drug expected to affect growth velocity
4. Any surgery that affects the growth plate of the long bones that is planned, or has occurred in the past 18 months
5. Participation in any interventional study (investigational product or device) for treatment of achondroplasia or short stature
6. Has had bone-related surgery impacting assessment of anthropometric measurements or is expected to have it during the study period. Children with previous limb-lengthening surgery may enroll if surgery occurred at least 18 months prior to the date of consent/assent and healing is complete without sequelae as determined by the investigator
7. Has any condition that in the view of the investigator places the child at high risk of poor compliance with the visit schedule or of not completing the study.
8. Any concurrent disease or condition that in the view of the investigator would interfere with study participation

Primary outcomes:
measure: Change From Baseline in Standing Height
timeFrame: Baseline, 1 year, 2 years, 3 years, 4 years
measure: Change From Baseline in Sitting Height
timeFrame: Baseline, 1 year, 2 years, 3 years, 4 years
measure: Change From Baseline in Knee Height
timeFrame: Baseline, 1 year, 2 years, 3 years, 4 years
measure: Change From Baseline in Head Circumference
timeFrame: Baseline, 1 year, 2 years, 3 years, 4 years
measure: Change From Baseline in Arm Span
timeFrame: Baseline, 1 year, 2 years, 3 years, 4 years
measure: Number of Participants With Achondroplasia-Related Treatments
timeFrame: Baseline to end of study visit (up to 55 months)
Secondary outcomes:
measure: Baseline and Post-baseline Measurements of Serum Collagen X Marker
timeFrame: Baseline, 1 year, 2 years, 3 years
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Los Angeles Biomedical Research Institute At Harbour-UCLA Medical Centre
state: California
city: Torrance
country: United States
facility: Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center
state: California
city: Wilmington
country: United States
facility: Alfred I. duPont Hospital for Children - Wilmington
state: Delaware
city: Wilmington
country: United States
facility: Alfred I. duPont Hospital for Children
state: Delaware
city: Baltimore
country: United States
facility: The John Hopkins
state: Maryland
city: Baltimore
country: United States
facility: The Johns Hopkins Hospital
state: Maryland
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Boston
country: United States
facility: Boston Childrens Hospital
state: Massachusetts
city: Columbia
country: United States
facility: Univesity of Missouri - Columbia
state: Missouri
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Houston
country: United States
facility: Texas Children Hospital
state: Texas
city: Houston
country: United States
facility: Texas Children'S Hospital
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah Health
state: Utah
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Parkville
country: Australia
facility: Murdoch Childrens Research Institute
state: Victoria
city: Melbourne
country: Australia
facility: Childrens Hospital Melbourne
city: Antwerp
country: Belgium
facility: Antwerp University Hospital
city: Edegem
country: Belgium
facility: Universitair Ziekenhuis Antwerpen (UZA)
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
city: Montreal
country: Canada
facility: CHU Sainte-Justine
state: Quebec
city: Toronto
country: Canada
facility: The Hospital for Sick Children
city: Guangzhou
country: China
facility: The First Affiliated Hospital, Sun Yat-sen University
state: Guangdong
city: Beijing
country: China
facility: Beijing Children's Hospital, Capital Medical University
city: Copenhagen
country: Denmark
facility: Righospitalet
city: Copenhagen
country: Denmark
facility: Bispebjerg Hospital
city: Marseille
country: France
facility: Centre Hospitalier Universitaire La Timone
city: Marseille
country: France
facility: Centre Hospitalier Univesitaire La Timone
city: Paris
country: France
facility: Hopital Necker-Enfants Malades
city: Cologne
country: Germany
facility: Center for Rare Skeletal Diseases in Childhood and Adolescence
city: Cologne
country: Germany
facility: University Hospital of Cologne
city: Magdeburg
country: Germany
facility: Otto-von-Guericke- Universitat Magdeburg
city: Magdeburg
country: Germany
facility: Otto-von-Guericke-Universitat Magdeburg
city: San Fermo della Battaglia
country: Italy
facility: ASST Lariana Como
state: Como
city: Genova
country: Italy
facility: IRCCS Istituto Giannina Gaslini
state: Genoa
city: Como
country: Italy
facility: ASST Lariana Como
city: Genova
country: Italy
facility: IRCCS Istituto Giannina Gaslini
city: Milan
country: Italy
facility: San Raffaele Hospital
city: Rome
country: Italy
facility: Center for Rare Diseases, Department of Pediatrics, Polo Salute Donna e Bambino
city: Rome
country: Italy
facility: Fondazione Policlinico Universitario A.Gemelli
city: Izumi
country: Japan
facility: Osaka Women's and Children's Hospital
state: Osaka
city: Suita
country: Japan
facility: Osaka University Hospital
state: Osaka
city: Okayama
country: Japan
facility: Okayama University Hospital
city: Coimbra
country: Portugal
facility: Hospital Pediatrico de Coimbra
city: Coimbra
country: Portugal
facility: Hospital Pediátrico de Coimbra
city: Barcelona
country: Spain
facility: Vall d'Hebron University Hospital
city: Barcelona
country: Spain
facility: Vall D'Hebron Univeristy Hospital
city: Málaga
country: Spain
facility: Hospital Quironsalud Malaga
city: Lausanne
country: Switzerland
facility: CENTRE HOSPITALIER UNIVERSITAIRE VAUDOIS -CHUV Hôpital Neslé
city: Lausanne
country: Switzerland
facility: Centre Hospitalier Universitaire Vaudois -CHUV
city: Bristol
country: United Kingdom
facility: Bristol Royal Childrens Hospital
city: Bristol
country: United Kingdom
facility: University Hospitals Bristol NHS Foundation Trust
city: London
country: United Kingdom
facility: Guy's & St Thomas NHS Trust, St Thomas' Hospital
city: London
country: United Kingdom
facility: Guys & St Thomas NHS Trust
city: Newcastle upon Tyne
country: United Kingdom
facility: Newcastle Hospitals NHS Foundation Trust
city: Newcastle
country: United Kingdom
facility: Newcastle Hospital NHS Foundation Trust
city: Sheffield
country: United Kingdom
facility: Sheffield Children's NHS Foundation Trust
city: Sheffield
country: United Kingdom
facility: Sheffield Childrens NHS Foundation Trust
Study officials:
affiliation: Pfizer
name: Pfizer Pfizer CT.gov Call Center
role: STUDY_DIRECTOR
References: