Longitudinal Study of the Porphyrias

Launched by ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · Mar 21, 2012

Keywords

ClinConnect Summary

This clinical trial, called the Longitudinal Study of the Porphyrias, aims to better understand the different types of porphyrias, which are rare disorders that affect how the body produces heme, an important part of red blood cells. Researchers are interested in learning about the long-term effects of these conditions, how they impact daily life, pregnancy outcomes, and overall health. The study is currently recruiting participants of all ages who have been diagnosed with a porphyria and have specific lab results or genetic information to confirm their condition.

To participate, individuals need to have a documented diagnosis of porphyria based on laboratory tests done after 1980 or genetic testing showing a related mutation. Patients or their guardians must also provide consent to take part in the study. Those who may not show symptoms but have a family history of porphyria can also join if they meet the criteria. Participants can expect to provide health information over time, helping researchers gather valuable data about these conditions. This study is a great opportunity to contribute to the understanding of porphyrias and potentially improve care for others with these disorders.

Gender

ALL

Eligibility 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.