MCDS-Therapy - Repurposing of carbamazepine (CBZ) for the treatment of skeletal dysplasia in childre

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: Not specified

Target Recruitment: 40

Inclusion Criteria

•Participants where a pathogenic mutation in the gene encoding the COL10A1 protein has been identified by sequence analysis
•Ambulant at the time of consent/assent, with open epiphyses
•Willing to attend for safety monitoring assessments
•Willing and able to adhere to the trial visit schedule and other protocol requirements.
•Capable of giving informed consent, or if appropriate, participants having an acceptable individual capable of giving consent on the participant’s behalf (e.g. parent or legal guardian of a child under 16 years of age)
•Written informed consent signed (by parent(s)/legal guardian and/or the subject, according to the local regulations)
•The patient, if female and of childbearing potential, must have a negative pregnancy test [urine beta-human chorionic gonadotropin (ß-hCG)] at baseline and agree to regular pregnancy testing during the trial.
•Sexually active female patients of childbearing potential are required to practice true abstinence in line with their preferred and usual lifestyle or use two acceptable effective methods of contraception, a barrier method such as a condom or occlusive cap (diaphragm or cervical/vault cap) with spermicidal foam/gel/film/cream/suppository and an established non-barrier method such as oral, injected, or implanted hormonal methods (hormonal preparations must contain not less than 50µg oestrogen) use of some alternative non-hormonal method of contraception should be considered, an intrauterine device or intrauterine system for the entire duration of the treatment period.

Are the trial subjects under 18? yes
Number of subjects for this age range: 40
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range 0
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0

Exclusion Criteria

•Patients who have reached skeletal maturity
•Patients who have had a prior adverse reaction to carbamazepine or similar drugs such as oxcarbazepine, or to any related tricyclic antidepressants.
•Patients known to have atrioventricular block
•Patients who have a history of bone marrow suppression/depression
•Patients who have evidence of chronic hepatic or renal impairment
•Patients who have acute intermittent porphyria
•Patients who have received a monoamine oxidase inhibitor within 14 days of commencing therapy
•Patients who have abnormal blood screening results at the time of treatment initiation will be excluded unless the Investigator believes the abnormality to be non-significant clinically
•Patients of Han Chinese, Thai and other Asian origins who carry the HLA-B*1502 allele

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method

Secondary Outcome Measures

Name	Time	Method

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