Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.

NCT03794609 | Terminated Results

• 2 other identifiers: TA46-002C4181001
• Study Type: observational
• Target: 315
• Locations: 14 countries
• Sites: 57

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.

Conditions

Achondroplasia

Outcome Measures

Primary Outcomes (6)

• Change From Baseline in Standing Height

  Standing height (for participants aged ≥2 years) is an assessment of maximum vertical size. Standing height was measured using a stadiometer with a fixed vertical backboard and an adjustable head piece. Height in supine position (or length for participants aged \<2 years) was measured using measuring board. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years and ≥2 years) and gender of the participants.

  Baseline, 1 year, 2 years, 3 years, 4 years

• Change From Baseline in Sitting Height

  Sitting height (for participants aged ≥2 years) is a measure of the trunk of the body from the buttocks to the top of the head when the participant is sitting upright. Sitting height was measured using a stadiometer and sitting height table. Crown-rump length (for participants aged \<2 years) was measured using measuring board. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years and ≥2 years) and gender of the participants.

  Baseline, 1 year, 2 years, 3 years, 4 years

• Change From Baseline in Knee Height

  Knee height means lower segment length (lower segment=standing height - sitting height). Knee height was measured using knee height caliper. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

  Baseline, 1 year, 2 years, 3 years, 4 years

• Change From Baseline in Head Circumference

  Head circumference is a measurement of the circumference of the child's head at its largest area, above the eyebrows and ears and around the back of the head. Head circumfernce was measured using measuring tape. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

  Baseline, 1 year, 2 years, 3 years, 4 years

• Change From Baseline in Arm Span

  Arm span measurement is the distance between fingertips when the arms are outstretched. All participants should be measured supine lying on the measurement grid. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

  Baseline, 1 year, 2 years, 3 years, 4 years

• Number of Participants With Achondroplasia-Related Treatments

  Achondroplasia-related treatments were collected in a prospective and standardized fashion to allow characterization of the natural history of the disease course in the youngest participants in relation to the level of actual disease burden over time due to treatments, as well as data to support identification of possible risk factors. Data is reported according to the gender of the participants.

  Baseline to end of study visit (up to 55 months)

Secondary Outcomes (1)

• Baseline and Post-baseline Measurements of Serum Collagen X Marker

  Baseline, 1 year, 2 years, 3 years

Eligibility Criteria

• Age: 0 Years - 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• Written informed consent is obtained from the children's parent(s) / legal guardian(s) before any study-related activity is carried out
• 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
• The child has been diagnosed as having achondroplasia documented by clinical diagnosis
• The child is between 0 years and 10 years of age, inclusive, on the date of consent / assent
• The investigator has considered the family and prospective participating child being able to comply with the study procedures

You may not qualify if:

• The child has a diagnosis of hypochondroplasia or any short stature condition other than achondroplasia (eg, spondyloepiphyseal dysplasia congenital \[SEDC\], pseudoachondroplasia, trisomy 21)
• 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
• 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
• Any surgery that affects the growth plate of the long bones that is planned, or has occurred in the past 18 months
• Participation in any interventional study (investigational product or device) for treatment of achondroplasia or short stature
• 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
• 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.
• Any concurrent disease or condition that in the view of the investigator would interfere with study participation

Sponsors & Collaborators

• Pfizer: lead

Study Sites (57)

Los Angeles Biomedical Research Institute At Harbour-UCLA Medical Centre

Los Angeles, California, 90502, United States

Location

Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center

Torrance, California, 90502, United States

Location

Alfred I. duPont Hospital for Children - Wilmington

Wilmington, Delaware, 419803-3607, United States

Location

Alfred I. duPont Hospital for Children

Wilmington, Delaware, 419803, United States

Location

The John Hopkins

Baltimore, Maryland, 21287, United States

Location

The Johns Hopkins Hospital

Baltimore, Maryland, 21287, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Boston Childrens Hospital

Boston, Massachusetts, 02115, United States

Location

Univesity of Missouri - Columbia

Columbia, Missouri, 65203, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Texas Children Hospital

Houston, Texas, 77030, United States

Location

Texas Children'S Hospital

Houston, Texas, 77030, United States

Location

University of Utah Health

Salt Lake City, Utah, 84132, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Murdoch Childrens Research Institute

Parkville, Victoria, 3052, Australia

Location

Childrens Hospital Melbourne

Melbourne, Australia

Location

Antwerp University Hospital

Antwerp, 2650, Belgium

Location

Universitair Ziekenhuis Antwerpen (UZA)

Edegem, 2650, Belgium

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

CHU Sainte-Justine

Montreal, Quebec, H3T 1C5, Canada

Location

The Hospital for Sick Children

Toronto, Canada

Location

The First Affiliated Hospital, Sun Yat-sen University

Guangzhou, Guangdong, 510080, China

Location

Beijing Children's Hospital, Capital Medical University

Beijing, 100045, China

Location

Righospitalet

Copenhagen, 2100, Denmark

Location

Bispebjerg Hospital

Copenhagen, 2400, Denmark

Location

Centre Hospitalier Universitaire La Timone

Marseille, 13385, France

Location

Centre Hospitalier Univesitaire La Timone

Marseille, 13385, France

Location

Hopital Necker-Enfants Malades

Paris, 75015, France

Location

Center for Rare Skeletal Diseases in Childhood and Adolescence

Cologne, 50937, Germany

Location

University Hospital of Cologne

Cologne, 50937, Germany

Location

Otto-von-Guericke- Universitat Magdeburg

Magdeburg, 39120, Germany

Location

Otto-von-Guericke-Universitat Magdeburg

Magdeburg, 39120, Germany

Location

ASST Lariana Como

San Fermo della Battaglia, COMO, 22042, Italy

Location

IRCCS Istituto Giannina Gaslini

Genova, Genoa, 16147, Italy

Location

ASST Lariana Como

Como, 22042, Italy

Location

IRCCS Istituto Giannina Gaslini

Genova, 6147, Italy

Location

San Raffaele Hospital

Milan, 20132, Italy

Location

Center for Rare Diseases, Department of Pediatrics, Polo Salute Donna e Bambino

Rome, 00168, Italy

Location

Fondazione Policlinico Universitario A.Gemelli

Rome, 00168, Italy

Location

Osaka Women's and Children's Hospital

Izumi, Osaka, 594-1101, Japan

Location

Osaka University Hospital

Suita, Osaka, 565-0871, Japan

Location

Okayama University Hospital

Okayama, 700-8558, Japan

Location

Hospital Pediatrico de Coimbra

Coimbra, 3000-602, Portugal

Location

Hospital Pediátrico de Coimbra

Coimbra, 3000-602, Portugal

Location

Vall d'Hebron University Hospital

Barcelona, 08035, Spain

Location

Vall D'Hebron Univeristy Hospital

Barcelona, Spain

Location

Hospital Quironsalud Malaga

Málaga, Spain

Location

CENTRE HOSPITALIER UNIVERSITAIRE VAUDOIS -CHUV Hôpital Neslé

Lausanne, 1011, Switzerland

Location

Centre Hospitalier Universitaire Vaudois -CHUV

Lausanne, 1011, Switzerland

Location

Bristol Royal Childrens Hospital

Bristol, BS2 8BJ, United Kingdom

Location

University Hospitals Bristol NHS Foundation Trust

Bristol, BS2 8BJ, United Kingdom

Location

Guy's & St Thomas NHS Trust, St Thomas' Hospital

London, SE1 7EH, United Kingdom

Location

Guys & St Thomas NHS Trust

London, SE1 7EH, United Kingdom

Location

Newcastle Hospital NHS Foundation Trust

Newcastle, NE1 3BZ, United Kingdom

Location

Newcastle Hospitals NHS Foundation Trust

Newcastle upon Tyne, NE1 3BZ, United Kingdom

Location

Sheffield Children's NHS Foundation Trust

Sheffield, S10 2TH, United Kingdom

Location

Sheffield Childrens NHS Foundation Trust

Sheffield, S10 2TH, United Kingdom

Location

Related Links

• To obtain contact information for a study center near you, click here.

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Limitations and Caveats

The study was early terminated due to lack of efficacy in the Phase 2 study. The observation period was less than the planned 5 years.

Results Point of Contact

• Title: Pfizer ClinicalTrials.gov Call Center
• Organization: Pfizer Inc.

ClinicalTrials.gov_Inquiries@pfizer.com

1-800-718-1021

Study Officials

• Pfizer Pfizer CT.gov Call Center

  Pfizer

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2018
• First Posted: January 7, 2019
• Study Start: June 15, 2018
• Primary Completion: January 13, 2023
• Study Completion: January 13, 2023
• Last Updated: October 17, 2024
• Results First Posted: October 17, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

ES (3); GB (8); PT (2); DE (4); CN (2); IT (7); JP (3); US (14); DK (2); CH (2); CA (3); FR (3); BE (2); AU (2)