Study of Cyclodxtrin Therapy for Niemann-Pick disease Type C

JRCT ID: jRCTs071190008

Registered date:17/05/2019

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Niemann-Pick disase, type C
• Date of first enrollment: 03/07/2019
• Target sample size: 3
• Study type: Interventional
• Intervention(s): Treatment with intrathecal administration of cyclodextrin

Outcome(s)

• Primary Outcome: Change ratio of modified disability scale for NPC between before and after treatment
• Secondary Outcome: Change in EEG,hearing,MRI

Key inclusion & exclusion criteria

• Age minimum: >= 2age old
• Age maximum: <= 15age old
• Gender: Both

Include criteria

1)Genetically proven Niemann-Pick disease type C
2)From two year-old to fifteen year-old patient with apparent neurological symptom.
3)Possibility of regular intrathecal administration by lumbar puncture.
4)Possibility of repeated regular visits to Saga University Hospital.
5)Miglustat should be taken at least three months with a constant dosage before the baseline assessment.
6)The patient or the guardian understand poor life prognosis of this intractable disease and no established treatment for it.
7)The patient or the guardian understand that the safety and efficacy of HPBCD is not established,and unexpected adverse events which can lead to a life threatening sequelae could be occurred.
8)The patient or guardian understand risks for lumber puncture.
9)The patient or guardian understand that this treatment will be done in a limited period.

Exclude criteria

1)The age at registration is less than two year-old or more than sixteen year-old.
2)No neurological symptoms.
3)Past history of hypersensitivity reaction to cyclodextrin or its additives.
4)Suspected central nervous system infection or systemic infection.
5)Difficulty of lumbar puncture due to spinal anomaly.
6)Skin infection of the lumbar puncture site.
7)Neutropenia (less than 1,000/mm3)
8)Thrombocytopenia (less than 50,000/mm3)
9)Circulation abnormality in cerebrospinal fluid.
10)Use of anti-coagulants or bleeding tendancy.
11)Acute hepatic disease with jaundice or right upper abdominai pain.
12)Anemia which is less than 2SD of the age and sex standards.

Related Information

• Primary Sponsor: Matsuo Muneaki
• Source(s) of Monetary Support: KAKENHI,Trust accounts of Pediatric department of Saga University