Lowe SyndromeNCT00359515
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
An observational study of Lowe Syndrome, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Lowe Syndrome
- How many people
- 120 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Feb 2001to 3 Feb 2009
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Male gender, history of congenital cataracts, proximal renal tubular dysfunction, and developmental delay.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Mutation Detection for Lowe Syndrome
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.
Read the detailed description
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. Patients with known or suspected OCRL were enrolled under previous protocol 96-HG-0008 that expired in 1998 and was not renewed. We are continuing studies of DNA and cell samples obtained and archived under our previous protocol to identify mutations in the OCRL1 gene responsible for Lowe syndrome and related disorders in affected males and attempt to correlate these mutations to particular biochemical or cellular phenotypes (enzyme activity, protein stability, cellular localization and trafficking). Information about genotypes will not be communicated back to the patients, their parents (if patient is a minor) or their physicians as part of this study.
We are also continuing our investigations of heterogeneity in OCRL by studying collected cell cultures from our collaborator Dr. Steven Scheinman at Suny New York Medical University, Syracuse, from a group of patients with mutations in OCRL1 who have Dent disease, characterized by renal tubular dysfunction. These data, and the variability in the renal and CNS abnormalities that occur in OCRL are evidence for the existence of modifiers. We propose to identify genes that are differentially expressed in cells from OCRL patients, patients with Dent disease and OCRL1 mutations by gene expression analysis of RNA from patient samples.
As part of our study on phenotypic and genetic heterogeneity in OCRL, mutation analysis resulted in the identification of mutations mostly in the second two-thirds of OCRL1. However, the OCRL1 mutations in the Dent disease patients have been found in the first third of OCRL1. We plan to send samples from Lowe syndrome patients without identified OCRL1 mutations to a Dr. Steven Scheinman who will look for such OCRL1 mutations. He will be sent only coded samples and will look for such OCRL1 mutations. He will be sent only coded samples and will not have access to patient identifiers. This information will be used for research purposes only.
- Conditions
- Lowe Syndrome
- Keywords
- Archived Samples, Mutation Screening, Genotype-Phenotype Correlation, Pediatric Developmental Disorder, Cataracts, Mutation Detection, Lowe Syndrome, Genotype
- Medical subject headings
- Oculocerebrorenal Syndrome, Cataract
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2006 (estimated)
- Study start17 Feb 2001
- Study completion3 Feb 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lowe SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 120 participants
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00359515
- Sponsor's protocol ID
- 010095
- Other IDs
- 01-HG-0095
- Status last verified
- 3 Feb 2009
- First submitted
- 1 Aug 2006
- Last updated
- 2 Jul 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mutation Detection for Lowe Syndrome
- ClinicalTrials.gov ID
- NCT00359515
- Acronym / sponsor ID
- 010095
- Conditions
- Lowe Syndrome
- Keywords
- Archived Samples, Mutation Screening, Genotype-Phenotype Correlation, Pediatric Developmental Disorder, Cataracts, Mutation Detection, Lowe Syndrome, Genotype
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120 participants
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 17 Feb 2001
- Study completion
- 3 Feb 2009
- First posted
- 2 Aug 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. Patients with known or suspected OCRL were enrolled under previous protocol 96-HG-0008 that expired in 1998 and was not renewed. We are continuing studies of DNA and cell samples obtained and archived under our previous protocol to identify mutations in the OCRL1 gene responsible for Lowe syndrome and related disorders in affected males and attempt to correlate these mutations to particular biochemical or cellular phenotypes (enzyme activity, protein stability, cellular localization and trafficking). Information about genotypes will not be communicated back to the patients, their parents (if patient is a minor) or their physicians as part of this study.
We are also continuing our investigations of heterogeneity in OCRL by studying collected cell cultures from our collaborator Dr. Steven Scheinman at Suny New York Medical University, Syracuse, from a group of patients with mutations in OCRL1 who have Dent disease, characterized by renal tubular dysfunction. These data, and the variability in the renal and CNS abnormalities that occur in OCRL are evidence for the existence of modifiers. We propose to identify genes that are differentially expressed in cells from OCRL patients, patients with Dent disease and OCRL1 mutations by gene expression analysis of RNA from patient samples.
As part of our study on phenotypic and genetic heterogeneity in OCRL, mutation analysis resulted in the identification of mutations mostly in the second two-thirds of OCRL1. However, the OCRL1 mutations in the Dent disease patients have been found in the first third of OCRL1. We plan to send samples from Lowe syndrome patients without identified OCRL1 mutations to a Dr. Steven Scheinman who will look for such OCRL1 mutations. He will be sent only coded samples and will look for such OCRL1 mutations. He will be sent only coded samples and will not have access to patient identifiers. This information will be used for research purposes only.
Study design
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Male gender, history of congenital cataracts, proximal renal tubular dysfunction, and developmental delay.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
Related trials for Lowe Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Prospective Research Rare Kidney Stones (ProRKS)
Hyperoxaluria, Cystinuria
Not yet recruitingPhase 2
An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome
Lowe Syndrome
RecruitingObservational study
National Registry of Rare Kidney Diseases
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lowe Syndrome, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017; AzTrials last refreshed its copy on 8 Nov 2026.