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Trial record 7 of 46 for:    "porphyria"

Longitudinal Study of the Porphyrias

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01561157
Recruitment Status : Recruiting
First Posted : March 22, 2012
Last Update Posted : September 19, 2019
Information provided by (Responsible Party):
Icahn School of Medicine at Mount Sinai

Brief 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.

Condition or disease
Acute Porphyrias Cutaneous Porphyrias

Detailed 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 19 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.

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Study Type : Observational
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Longitudinal Study of the Porphyrias
Study Start Date : November 2010
Estimated Primary Completion Date : September 2024
Estimated Study Completion Date : December 2024

Acute Intermittent Porphyria (AIP)
Patients with a documented diagnosis of AIP
Hereditary Coproporphyria (HCP)
Patients with a documented diagnosis of HCP
Variegate Porphyria (VP)
Patients with a documented diagnosis of VP
Congenital Erythropoietic Porphyria (CEP)
Patients with a documented diagnosis of CEP
Hepatoerythropoietic Porphyria (HEP)
Patients with a documented diagnosis of HEP
Porphyria Cutanea Tarda (PCT)
Patients with a documented diagnosis of PCT
Erythropoietic Protoporphyria (EPP)
Patients with a documented diagnosis of EPP
X-Linked Protoporphyria (XLP)
Patients with a documented diagnosis of XLP
Aminolevulinate-Dehydratase Deficiency Porphyria (ALAD, ADP)
Patients with a documented diagnosis of ALAD, ADP

Primary Outcome Measures :
  1. clinical analysis [ Time Frame: baseline ]
    To develop disease severity scores to describe the combined frequency and severity of disease manifestations, utilizing linear mixed effects models & stratification by age of onset.

  2. Laboratory analysis [ Time Frame: baseline ]
    To evaluate porphyrin and porphyrin precursor levels alone or by genotype and porphyria subtype

Secondary Outcome Measures :
  1. Relationship between disease severity and biomarkers [ Time Frame: baseline ]
    To develop longitudinal models that relate, for example, porphyrin and porphyrin precursor levels alone or in concert with age, genotype and other features to the disease manifestation frequency.

  2. Effectiveness and tolerability of currently used and new therapies for the human porphyrias [ Time Frame: baseline ]
    Qualitative evaluation, using self-reporting questionnaires and clinical findings, and quantitative evaluation, using laboratory measures of organ function and porphyrin levels, to evaluate the effectiveness of therapies.

Biospecimen Retention:   Samples With DNA
whole blood, plasma/serum, red blood cells, white cells, urine, stool, tissue, DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Subjects will be recruited from the following resources:

  1. Patients followed by one of the Investigators
  2. The American Porphyria Foundation (APF)
  3. The Rare Diseases Clinical Research Network (RDCRN) Contact Registry
  4. Non-study Physician referrals
  5. Self-referrals, including family members of individuals diagnosed with Porphyria (proband) and other individuals who may have heard about the study from other subjects or prospective subjects.
  6. Medical Records Review

Inclusion Criteria:

  • Individuals with a documented diagnosis of a porphyria.
  • For each type of porphyria, the inclusion criteria are based on

    • clinical features;
    • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01561157

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Contact: Hetanshi Naik, MS, CGC 212-241-7699
Contact: Robert J Desnick, MD, PhD 212-659-6700

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United States, Alabama
University of Alabama, Birmingham Recruiting
Birmingham, Alabama, United States, 35294
Contact: Brendan McGuire, MD    205-975-3515   
Contact: Angelia Johnson    205-934-0498   
Principal Investigator: Brendan McGuire, MD         
United States, California
University of California, San Francisco Recruiting
San Francisco, California, United States, 94143
Contact: D. Montgomery Bissell, MD    415-476-8405   
Contact: Yuvraaj Kapoor    (415) 476-8405   
Principal Investigator: D. Montgomery Bissell, MD         
United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Cynthia Levy, MD    305-243-4648   
Contact: Odalys Rodriguez Bravo, RN    305-243-4648   
Principal Investigator: Cynthia Levy, MD         
United States, New York
Icahn School of Medicine at Mount Sinai Recruiting
New York, New York, United States, 10029
Contact: Robert J Desnick, MD, PhD    212-659-6500   
Contact: Tanushree Laud    212-659-1418   
Principal Investigator: Robert J Desnick, MD, PhD         
United States, North Carolina
Carolinas Medical Center and HealthCare System Terminated
Charlotte, North Carolina, United States, 28203
Wake Forest University Health Sciences Recruiting
Winston-Salem, North Carolina, United States, 27106
Contact: Herbert L Bonkovsky, MD    336-713-7341   
Contact: Denise Faust    336-713-1442   
Principal Investigator: Herbert L Bonkovsky, MD         
United States, Ohio
Cleveland Clinic Terminated
Cleveland, Ohio, United States, 44195
United States, Texas
University of Texas Medical Branch Recruiting
Galveston, Texas, United States, 77555
Contact: Karl E. Anderson, MD    409-772-4661   
Contact: Csilla Hallberg, MD    409-772-6287   
Principal Investigator: Karl E. Anderson, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84132
Contact: John Phillips, PhD    801-585-3229   
Contact: Cameron Tear    801-587-7525   
Principal Investigator: John Phillips, PhD         
United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Sioban Keel, MD   
Contact: Niall Curley    (206) 288-1231   
Principal Investigator: Sioban Keel, MD         
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
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Principal Investigator: Robert J Desnick, MD, PhD Icahn School of Medicine at Mount Sinai

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Icahn School of Medicine at Mount Sinai Identifier: NCT01561157     History of Changes
Other Study ID Numbers: GCO 10-1102
First Posted: March 22, 2012    Key Record Dates
Last Update Posted: September 19, 2019
Last Verified: September 2019
Keywords provided by Icahn School of Medicine at Mount Sinai:
acute intermittent
cutanea tarda
Additional relevant MeSH terms:
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Porphyria, Acute Intermittent
Porphyria, Erythropoietic
Metabolic Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Porphyrias, Hepatic
Liver Diseases
Digestive System Diseases