PorphyriaNCT00004331
Studies in Porphyria I: Characterization of Enzyme Defects
An observational study of Porphyria, run by National Center for Research Resources (NCRR) at 1 site in United States.
Trial summary
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyria research protocols. III. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Porphyria
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 1992to not given
- 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 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
- Suspected or confirmed porphyria
- Adults, children, and family members eligible
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
University of Texas Medical Branch
Galveston, Texas, 77555-1109
Karl Elmo Anderson, 409-772-4661
About this study
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members.
II. Determine whether selected patients are eligible for other porphyria research protocols.
III. Provide blood, urine, and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes.
Read the detailed description
PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease. Testing includes erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and urinary and fecal porphyrins and precursors.
Selected patients are entered into other porphyrin research protocols in this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.
- Conditions
- Porphyria
- Keywords
- inborn errors of metabolism, porphyria, rare disease
- Medical subject headings
- Porphyrias, Metabolism, Inborn Errors, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 1999 (estimated)
- Study startNov 1992
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PorphyriaStudies 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
- 25 participants
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- University of Texas
- Investigators
- Karl Elmo Anderson, Study chair, University of Texas
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004331
- Sponsor's protocol ID
- 199/11888
- Other IDs
- UTMB-399
- Status last verified
- Dec 2003
- First submitted
- 18 Oct 1999
- Last updated
- 24 Jun 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Studies in Porphyria I: Characterization of Enzyme Defects
- ClinicalTrials.gov ID
- NCT00004331
- Acronym / sponsor ID
- 199/11888
- Conditions
- Porphyria
- Keywords
- inborn errors of metabolism, porphyria, rare disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- University of Texas
- Study start
- Nov 1992
- First posted
- 19 Oct 1999 (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.
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members.
II. Determine whether selected patients are eligible for other porphyria research protocols.
III. Provide blood, urine, and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes.
Detailed description
PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease. Testing includes erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and urinary and fecal porphyrins and precursors.
Selected patients are entered into other porphyrin research protocols in this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.
Study design
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
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
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2005.
Related trials for Porphyria
Enrolling by invitationPhase 2/3
HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP
Erythropoietic Protoporphyria
RecruitingObservational study
ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)
Acute Hepatic Porphyria
Active, not recruitingObservational study
Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Postural Orthostatic Tachycardia Syndrome, Acute Hepatic Porphyria
RecruitingPhase 2/3
A Study to Investigate PORT-77 Oral Dosing Compared With Placebo in Participants With Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP)
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
RecruitingObservational study
Identification of Acute Intermittent Porphyria Modifying Genes
Acute Intermittent Porphyria (AIP)
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.
Karl Elmo Anderson study chair
University of Texas
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 Porphyria, run by National Center for Research Resources (NCRR) 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?
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: status not confirmed, as of the sponsor's last update on 24 Jun 2005. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. 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 24 Jun 2005.