Long-term investigation of porphyrias and their effects
Longitudinal Study of the Porphyrias
This study is trying to learn more about how porphyrias affect people over time, including their health, pregnancy, and overall outcomes, to help improve treatments for these rare disorders.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1500 (estimated) |
| Ages | 1 Minute and up |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 15 sites (Birmingham, Alabama and 14 other locations) |
| Trial ID | NCT01561157 on ClinicalTrials.gov |
What this trial studies
This study conducts a longitudinal investigation into the natural history, morbidity, pregnancy outcomes, and mortality associated with porphyrias, a group of rare metabolic disorders. It aims to gather comprehensive data on patients diagnosed with various types of porphyrias, including acute and cutaneous forms, to better understand their progression and the impact of existing therapies. By analyzing biochemical and molecular findings, the study seeks to identify factors that influence patient outcomes and to support the development of new treatment options. The research is part of a broader initiative by the Rare Diseases Clinical Research Network to improve knowledge and care for rare diseases.
Who should consider this trial
Good fit: Ideal candidates include individuals with a documented diagnosis of any type of porphyria, supported by biochemical or molecular evidence.
Not a fit: Patients without a confirmed diagnosis of porphyria or those who do not meet the specific biochemical or molecular criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of porphyrias, ultimately enhancing patient outcomes and treatment options.
How similar studies have performed: While studies on porphyrias are limited, the collaborative approach of this research aligns with successful models seen in other rare disease investigations.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with a documented diagnosis of a porphyria. * For each type of porphyria, the inclusion criteria are based on * Biochemical findings, as documented by laboratory reports (or copies) of porphyria-specific testing performed after 1980 (Absolute values are preferred for diagnostic biochemical thresholds. Fold increases in comparison to an upper (or lower) limit of normal (ULN or LLN) are also acceptable, but are complicated by considerable variation between laboratories in normal limits. Equivocal biochemical measurements may require confirmation by a consortium reference laboratory;) * molecular findings documenting the identification of a mutation in a porphyria-related gene. * In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate. * Provision is made for enrolling relatives who may not have symptoms but have biochemical or molecular documentation of a porphyria, or in the case of recessive disorders carry a disease-related mutation. Exclusion Criteria: * Cases with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases; * Patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.
Where this trial is running
Birmingham, Alabama and 14 other locations
- University of Alabama, Birmingham — Birmingham, Alabama, United States (Recruiting)
- University of California, Los Angeles — Los Angeles, California, United States (Not_yet_recruiting)
- University of California, San Francisco — San Francisco, California, United States (Recruiting)
- University of Miami — Miami, Florida, United States (Recruiting)
- University of Illinois at Chicago — Chicago, Illinois, United States (Recruiting)
- Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
- University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
- Icahn School of Medicine at Mount Sinai — New York, New York, United States (Recruiting)
- Carolinas Medical Center and HealthCare System — Charlotte, North Carolina, United States (Terminated)
- Wake Forest University Health Sciences — Winston-Salem, North Carolina, United States (Recruiting)
- Cleveland Clinic — Cleveland, Ohio, United States (Not_yet_recruiting)
- Thomas Jefferson University — Philadelphia, Pennsylvania, United States (Recruiting)
- University of Texas Medical Branch — Galveston, Texas, United States (Recruiting)
- University of Utah — Salt Lake City, Utah, United States (Recruiting)
- University of Washington — Seattle, Washington, United States (Recruiting)
Study contacts
- Principal investigator: Manisha C Balwani, MD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Mary Freeman, MS, CGC
- Email: mary.freeman@mssm.edu
- Phone: 212-659-1434
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.