An observational, prospective, multi-centre, natural history study of patients with mucopolysaccharidosis type IIIA - Natural history study of patients with MPS IIIA

ysogene SA0 个研究点目标入组 5 人开始时间: 待定最近更新: 2024年4月23日

适应症

试验速览

暂无简介。

•* Documented MPS IIIA diagnosis.
•* Children up to and including 9 years of age.
•* The patient is sufficiently able, in the opinion of the Investigator, to adhere to the study visit schedule and other protocol requirements.
•* The patient's parent(s) or legal guardian(s) has signed written informed consent, according to the local regulations and after all relevant aspects of the study have been explained and discussed.

•* The patient is participating in a clinical trial of any potential disease-modifying investigational medicinal product or taking high dose (>100 mg/kg/day) synthetic Genistein (patients on low dose or naturally derived genistein can be included in this study).
•* The patient has received a hemapoietic stem cell or bone marrow transplant or gene therapy.
•* The patient has received enzyme replacement therapy.
•* Homozygous or compound heterozygous for the S298P mutation or the investigator and/or trial steering committee considers the patient not to have the classical severe form of MPS IIIA.
•* Individuals with rare and unrelated serious comorbidities e.g. Down syndrome, intraventricular haemorrhage in the new-born period, or extreme low birth weight (<1500 grams).
•* Visual or hearing impairment sufficient, in the clinical judgment of the investigator, to preclude cooperation with neurodevelopmental testing. Use of hearing aids is permitted.

发起方

ysogene SA