Natural course of Niemann-Pick disease type C in the Netherlands

Natural course of Niemann-Pick disease type C in the Netherlands - Niemann-Pick type C

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON34986

Enrollment

Registered

2010-05-18

Start date

2010-03-01

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Niemann-Pick Disease type C NP-C

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: The patient should have undergone a filipin staining test that showed impaired intracellulair cholesterol transport and homeostasis and/ or has documented mutations in the genes NPC1 or NPC2.

Exclusion criteria

Exclusion criteria: The patient, parent or legal representative of the patient is unwilling to participate or no clinical information is available.

Design outcomes

Primary

Measure	Time frame
Outcome of the study will be an increased knowledge on the natural course of Niemann Pick disease type C, more knowledge on symptoms and life expectancy. In addition, there will be more knowledge on the geno- phenotype relation in NPC.	—

Countries

Netherlands

Outcome results