Ignite Creation Date:
2024-05-05 @ 11:31 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00068224
Status:
COMPLETED
Last Update Posted:
2021-02-21
First Post:
2003-09-10
Brief Title:
Clinical and Molecular Investigations Into Ciliopathies
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Investigations Into Ciliopathies
Status:
COMPLETED
Status Verified Date:
2021-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study will evaluate patients ciliopathies People with ciliopathies develop fibrocystic disease of the kidneys and liver retinal degeneration obesity structural and functional defects of the central nervous system and the eyes abnormal bone growth abnormal sidedness of internal organs and polydactyly The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments
Detailed Description:
Human diseases caused by defects of the primary cilium ciliopathies are a group of distinct disorders with overlapping features Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver retinal degeneration obesity structural and functional defects of the central nervous system and the eyes abnormal bone growth abnormal sidedness of internal organs and polydactyly Human ciliopathies characterized by variable combinations of these features include autosomal recessive ARPKD and dominant ADPKD polycystic kidney diseases nephronophthisis NPHP Joubert syndrome and related disorders JSRD Bardet-Biedl BBS Meckel-Gruber MKS Oral-Facial-Digital-type 1 OFD1 and Alstrom syndromes AS and skeletal disorders such as Jeune syndrome JS and cleidocranial dysplasia ARPKD the most common pediatric ciliopathy is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis of the liver JSRD are a heterogenous group of syndromes characterized by a distinctive cerebellar and brainstem malformation molar tooth sign intellectual disability abnormal eye movements and abnormal respiratory pattern in infancy Other common features seen in subsets of JSRD patients include fibrocystic renal disease congenital hepatic fibrosis retinal degeneration retinal colobomas occipital encephalocele and polydactyly AS and BBS are ciliopathies characterized by obesity and retinal degeneration and hepatorenal disease in most cases BBS patients also exhibit postaxial polydactyly cognitive impairment male hypogonadotrophic hypogonadism and female genitourinary malformations Additional features in AS include metabolic syndrome associated with insulin resistance and hyperlipidemia cardiomyopathy and sensorineural deafness OFD-I is characterized by polycystic kidney disease and oral digital and brain anomalies including cerebellar hypoplasia with or without Dandy-Walker malformation JS is a skeletal ciliopathy characterized by small thorax short-limbed short stature fibrocystic renal disease and retinal degeneration The frequency and characteristics and natural history of specific organsystem disease in ciliopathies are either unknown or poorly defined mostly because of the limited data available from retrospective reports of small numbers of patients
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-HG-0264 | None | None | None |