Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT01561157 |
| Other study ID # |
GCO 10-1102 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
November 1, 2010 |
| Est. completion date |
June 2025 |
Study information
| Verified date |
March 2024 |
| Source |
Icahn School of Medicine at Mount Sinai |
| Contact |
Mary Freeman, MS, CGC |
| Phone |
212-659-1434 |
| Email |
mary.freeman[@]mssm.edu |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation
of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and
mortality in people with these disorders.
Description:
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult
life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common
manifestations are related to accumulation of intermediates in the pathway and usually occur
as acute neurological attacks, or cutaneous photosensitivity. Multiple mutations have been
identified in each of the porphyrias. The risk of disability or death from these disorders is
significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic
testing in clinical practice. Moreover, the natural history of these disorders is not well
described and it is not known what determines differences in outcomes. New therapies are
needed. For existing therapies, high-quality evidence on short and long term efficacy and
safety is generally lacking. Therefore, the purpose of this long-term follow-up study of a
large group of patients with the various porphyrias is to provide a better understanding of
the natural history of these disorders, as affected by available therapies, and to aid in
developing new forms of treatment.
The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a
Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes
and currently has funded several rare diseases clinical research consortia and one Data
Management and Coordinating Center. The Porphyrias Consortium was created as part of the
RDCRN, to study the human porphyrias. The Porphyrias Consortium is a consortium of the
academic institutions listed in the participating institutions table. All Centers in the
Porphyrias Consortium are participating in the Longitudinal Study of the Porphyrias.
Additional centers may be added if funding is available.
The initial objective of this protocol is to assemble a well-documented group of patients
with confirmed diagnoses of specific porphyrias for clinical, biochemical, and genetic
studies. The long-term objective is to conduct a longitudinal investigation of the natural
history, complications, and therapeutic outcomes in people with acute and cutaneous
porphyria.
