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NCT00359515
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
trial in Lowe Syndrome in 120 participants. Completed in 3 February 2009.
Quick facts
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 120 |
| Start date | 17 February 2001 |
| Estimated completion | 3 February 2009 |
| Sites | 1 location across United States |
Conditions studied
- Lowe Syndrome — all drugs for Lowe Syndrome →
Sponsor
National Human Genome Research Institute (NHGRI)
Who can join
Eligibility, male only, with Lowe Syndrome. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males). Patients with OCRL have abnormal development of the eye lens, developmental delay, muscle weakness and kidney dysfunction. The study will examine DNA and cell samples obtained and archived from patients with OCRL enrolled in a previous protocol (HG008A) between 1996 and 1999. It will identify mutations in the OCRL1 gene responsible for OCRL in affected males and try to correlate them with specific biochemical or cellular activities (e.g., enzyme activity, protein stability, cellular localization and trafficking). When test results are available, the information will be communicated to the patients, their parents (if the patient is a minor) and their physicians, and families will receive genetic counseling.
Publications & conference data
No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.
Verify or expand the search:
- PubMed search for NCT00359515
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Lowe Syndrome
Currently open trials in the same condition.
- NCT06065852 — National Registry of Rare Kidney Diseases · recruiting
Other National Human Genome Research Institute (NHGRI) trials
Trials by the same sponsor.
- NCT05657405 — Observational Study of Advanced Data Analytics in Genetic Conditions · recruiting
- NCT06948110 — Deciphering the Genetic Architecture of Autoimmune Diseases · recruiting
- NCT06664814 — An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomeruloscleros · Phase 2 · recruiting
- NCT06595940 — Genetic Analysis of Uncommon Disease Presentations in Non-US Populations · recruiting
- NCT06552754 — Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers · NA · recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT00359515 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI)
- Last refreshed: 2 July 2017
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT00359515.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing