Longitudinal Study for Porphyrias

Recruiting at 13 trial locations

Overseen By Cristoforo Terrasi

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Icahn School of Medicine at Mount Sinai

Disqualifiers: Liver disease, Bone marrow disease, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

1500 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to study porphyrias, a group of rare disorders affecting the skin or nervous system due to issues with heme production (a component of hemoglobin). Researchers seek to understand how these conditions progress over time, their impact on daily life, and their outcomes during pregnancy. The trial seeks individuals diagnosed with any type of porphyria or their relatives who may carry a related gene mutation. Participants must provide documented evidence of their condition, typically through lab tests or genetic results. As an unphased trial, this study offers participants the chance to contribute to a deeper understanding of porphyrias and potentially improve future care.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Why are researchers excited about this trial?

Researchers are excited about the Longitudinal Study of the Porphyrias because it aims to provide a deep, ongoing understanding of how porphyrias affect patients over time. Unlike current treatments, which often focus on managing acute symptoms or reducing attacks, this study seeks to uncover patterns and long-term impacts, potentially leading to breakthroughs in treatment and prevention strategies. By tracking patients over an extended period, researchers hope to identify new biomarkers and develop more effective, personalized treatment plans.

Who Is on the Research Team?

Manisha C Balwani, MD

Principal Investigator

Icahn School of Medicine at Mount Sinai

Are You a Good Fit for This Trial?

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;)

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Assessment

Initial clinical, biochemical, and genetic studies to confirm diagnoses of specific porphyrias

Baseline

Longitudinal Follow-up

Participants are monitored for natural history, complications, and therapeutic outcomes of porphyrias

Long-term

Data Analysis

Development of disease severity scores and evaluation of therapy effectiveness

Ongoing

What Are the Treatments Tested in This Trial?

Interventions

• Longitudinal Study

Who Is Running the Clinical Trial?

Icahn School of Medicine at Mount Sinai

Lead Sponsor

Trials

933

Recruited

579,000+

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Collaborator

Trials

2,513

Recruited

4,366,000+