Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT03883750 |
| Other study ID # |
IPSNPABC 6-2018 |
| Secondary ID |
|
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
June 19, 2018 |
| Est. completion date |
December 1, 2019 |
Study information
| Verified date |
April 2020 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
Establishment of individualized human cellular disease models based on induced pluripotent
stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
Description:
Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants,
children, or adults. Neonates can present with ascites and severe liver disease from
infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other
infants, without liver or pulmonary disease, have hypotonia and developmental delay. The
classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia,
vertical supranuclear gaze palsy, and dementia. Dystonia and seizures are common. Dysarthria
and dysphagia eventually become disabling, making oral feeding impossible; death usually
occurs in the late second or third decade from aspiration pneumonia. Adults are more likely
to present with dementia or psychiatric symptoms. The diagnosis of NPC is confirmed by
biochemical testing that demonstrates impaired cholesterol esterification and positive
filipin staining in cultured fibroblasts. Biochemical testing for carrier status is
unreliable. Most individuals with NPC have NPC1, caused by mutations in the NPC1 gene; fewer
than 20 individuals have been diagnosed with NPC2, caused by mutations in the NPC2 gene.
Molecular genetic testing of the NPC1 genes detects disease-causing mutations in
approximately 94% of individuals with NPC. Such testing is available clinically.
NPC is inherited in an autosomal recessive manner. The phenotype (i.e., age of onset and
severity of symptoms) usually runs true in families. Carrier testing for at-risk relatives
and prenatal testing for pregnancies at increased risk are possible when the two
disease-causing mutations have been identified in the family.
Though NPC is a pan-ethnic disorder, the prevalence of this autosomal-recessive disorder is
elevated in countries with a higher frequency of consanguinity.
Therefore, the goal of the study to prepare a cell culture from patients affected with
Niemann Pick disease in order to identify novel pathways and proteins involved in disease
progression that allow for an earlier diagnosis (i.e. before symptom onset) and that are
suitable targets for an individualized therapeutic approach able to address not only the
hepatic form, but also the neurologic form of the disease, which is less responsive to the
current therapeutic approaches.
