A Study in Children With Achondroplasia

NCT07301463 | Recruiting

• 1 other identifier: ABSK061-001
• Study Type: observational
• Target: 260
• Locations: 1 country
• Sites: 8

Brief Summary

The goal of this observational study is to collect the anthropometric parameters, clinical characteristics, related medical complications, health-related quality of life and treatments of children with ACH, and complete a natural history observation of ACH for at least 6 months and up to 2 years.

Conditions

Achondroplasia

Outcome Measures

Primary Outcomes (1)

• Annualized growth velocity (AGV)

  Annualized growth velocity (AGV)

  Through the study completion, an average of three months, up to 2 years

Secondary Outcomes (3)

• standing height

  an average of three months, up to 2 years

• sitting height

  an average of three months, up to 2 years

• sitting height to standing height ratio

  an average of three months, up to 2 years

Study Arms (1)

Children with Achondroplasia

Male or female aged ≥2.5 to \<11 years old at screening

Other: No Interventions; Other: complete a natural history observation of ACH for at least 6 months and up to 2 years

Interventions

No Interventions OTHER

No Interventions

Children with Achondroplasia

complete a natural history observation of ACH for at least 6 months and up to 2 years OTHER

no interventions

Children with Achondroplasia

Eligibility Criteria

• Age: 30 Months - 11 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Children with Achondroplasia

You may qualify if:

• Prior to screening, the guardians and children with ACH (if applicable) must be willing and able to provide signed informed consent.
• Clinical diagnosis of ACH confirmed FGFR3 mutation by genetic testing.
• Male or female aged ≥2.5 to \<11 years old at screening.
• Tanner Stage 1 breast development for females or Tanner Stage 1 external genitalia development for males at screening.
• Ambulatory and able to stand without assistance.

You may not qualify if:

• Bone age ≥14 years as assessed by the investigator based on hand and wrist X-ray taken within 6 months prior to Day 1.
• Current evidence of growth plate closure (proximal tibia, distal femur), or AGV ≤ 1.5 cm/year over a period ≥6 months prior to screening.
• Have a form of skeletal dysplasia other than ACH or known medical conditions that result in short stature or abnormal growth, including but not limited to severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), Turner syndrome, pseudoachondroplasia, inflammatory bowel disease, chronic renal insufficiency, active celiac disease a, Vitamin D deficiency b, untreated hypothyroidism c, poorly controlled diabetes (HbA1c ≥8.0%) or diabetic complications d.
• Celiac disease responsive to a gluten-free diet is allowed
• Vitamin D deficiency or insufficiency with a 25-hydroxyvitamin D \[25- (OH) D\] level ≥ 30 nmol/L after supplementation is allowed. Vitamin D deficiency is defined as 25-(OH) D level \<30 nmol/L. Vitamin D insufficiency is defined as 25-(OH) D level 30\~50 nmol/L. Patients with Vitamin D deficiency or insufficiency must be on Vitamin D regimen prior to screening
• Patients with hypothyroidism meeting the following criteria are allowed to enroll: must be clinically euthyroid for one month prior to screening and, in the opinion of the investigator, have achieved any catch-up growth expected from thyroxine replacement
• Patients with diabetes must have been on stable medication regimen for 3 months prior to screening
• History or presence of injury or disease of the growth plate(s), other than ACH, that affects growth potential of long bones.
• Impaired cardiac function or clinically significant cardiovascular disease, including any one of the following: New York Heart Association class II or higher heart disease, congenital heart disease (patients with repaired uncomplicated patent ductus arteriosus or atrial/ventricular septal defect with repair are allowed), clinically significant arrhythmias requiring therapy, aortic regurgitation, congestive heart failure, or any other uncontrolled heart disease.
• For ACH-related complications: Current severe sleep apnea, symptomatic and/or requiring intervention for hydrocephalus, or spinal cord compression at the cranio-cervical junction, and has previously undergone ventriculoperitoneal shunt surgery.
• Bone fracture within 6 months prior to screening (within 2 months for finger and toe fractures).
• Have received any dose of medications affecting stature or body proportionality, such as human growth hormone, insulin-like growth factor 1 (IGF-1), or anabolic steroids within 3 months prior to screening, or long-term treatment (\>3 months) with the above drugs at any time.
• Prior treatment with any CNP analogues or FGFR inhibitors. Prior use of any investigational drugs or investigational medical devices that affect stature or body proportionality.
• Any comorbidities, disease or condition that, in the opinion of the investigator, may make the patient unlikely to fully complete the study-related procedures, may affect protocol compliance.

Sponsors & Collaborators

• Abbisko Therapeutics Co, Ltd: lead

Study Sites (8)

Beijing Children's Hospital, Capital Medical University

Beijing, Beijing Municipality, China

RECRUITING

Guangzhou Women and Childrens Medical Center

Guangzhou, Guangzhou, China

NOT YET RECRUITING

Henan Children's Hospital, Zhengzhou Children's Hospital

Zhengzhou, Henan, China

NOT YET RECRUITING

Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

Wuhan, Hubei, China

RECRUITING

Xin Hua Hospital Affiliatod to Shanghai Jiao Tong University School of Medicine

Shanghai, Shanghai Municipality, China

RECRUITING

Chengdu Women's and Children's Central Hospital

Chengdu, Sichuan, China

NOT YET RECRUITING

West China Second University Hospital, Sichuan University

Chengdu, Sichuan, China

ACTIVE NOT RECRUITING

Children's Hospital Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

NOT YET RECRUITING

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

Study Officials

• Yuan Lu

  12B, Building 1, No 515, Huanke Road, Pudong New Area, Shanghai 201210, China

  STUDY DIRECTOR

Central Study Contacts

Jing Zhang

CONTACT

+86-15002126439; jing.zhang@abbisko.com

Study Design

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

Study Record Dates

• First Submitted: November 18, 2025
• First Posted: December 24, 2025
• Study Start: June 20, 2025
• Primary Completion (Estimated): December 30, 2028
• Study Completion (Estimated): April 30, 2039
• Last Updated: December 24, 2025

Record last verified: 2025-11

Locations

CN (8)