Observational study of children with achondroplasia

JRCT ID: jRCT2031220113

Registered date:08/06/2022

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Achondroplasia
• Date of first enrollment: 03/10/2022
• Target sample size: 14
• Study type: Observational

Outcome(s)

Primary Outcome

(1) Height growth velocity for 26 weeks (6 months)
(2) Change in body weight, head circumference and chest circumference
(3) Change in BMI
(4) Change in serum ALP and NT-proCNP
(5) Changes in body proportion ratios (ratio of upper arm length to forearm length, ratio of thigh length to lower leg length, ratio of arm span to height)
(6) Bone age
(7) Morphological shape of the femoral growth plate
(8) Condition of elbow and hip joints based on clinical findings
(9) Tanner Staging Classification
(10) Adverse event

Key inclusion & exclusion criteria

• Age minimum: >= 5age old
• Age maximum: <= 14age old
• Gender: Both

Include criteria

(1) Able to obtain written informed consent from surrogate decision maker (parents, relatives or legal representative) before study entry
Able to obtain written informed assent from the patient after explaining the contents of this trial in the assent document (if possible)
(2) Has achondroplasia, diagnosed by genetic diagnosis
(3) Aged 5 to 14 years, inclusive, at study entry
(4) Able to lead a normal life without assistance
(5) Able to perform all the tests described in the protocol ,judged by Investigator

Exclude criteria

(1) Has short stature condition other than achondroplasia
(2) Has congenital diseases other than achondroplasia
(3) Has history of treatment with growth hormone or VOXZOGO within 12 weeks before study entry
(4) Has history of limb-lengthening surgery
(5) With a closed growth plate
(6) Has any of the following disorders that require surgical treatment on MRI or CT scans, or has clinically significant neurological symptoms or obstructive sleep apnea syndrome caused by these disorders: foramen magnum stenosis, spinal stenosis, hydrocephalus, spinal cord and cauda equina compression, etc (However, patients who have undergone surgical treatment for these disorders at least 26 weeks (6 months) before study entry and have no clinical problems can be enrolled)
(7) Has a history of allergies against the following products containing RBM-007 components (e.g., nucleic acid, polyethylene glycol, mannitol): prescribed medicines, vaccines, over-the-counter medicines, cosmetics, foods, etc
(8) Has history of cardiac or vascular disease
(9) Shows clinically significant abnormalities in the clinical laboratory test result, which is related to hepatic function or renal function
(10) Had a fracture of the long bones or spine (except for fracture of digits or toes)
(11) Has history of hip surgery, severe hip dysplasia or serious hip injury
(12) Highly likely to be unable to complete the trial, judged by the Investigator
(13) Used any other IP or investigational medical device within 26 weeks (6 months) before study entry
(14) Inadequate as a patient for this trial for any other reason than above, considered by the Investigator

Related Information

• Primary Sponsor: Nonaka Yosuke