Acute Intermittent Porphyria Clinical Trial
Official title:
Observational Study of Acute Intermittent Porphyria Patients
This is an observational prospective study that will allow evaluating the clinical and
laboratory parameters evolution of at least eight patients with AIP.
This study will allow establishing a baseline for the evaluation of the eight patients that
are planned to be included in a gene therapy clinical trial (AAVPBGD-AIP-001) for the AIP
treatment using a rAAV5-AAT-cohPBGD expression.
Patients fulfilling the study inclusion criteria will undergo a clinical and laboratory
evaluation for a minimum of 6 months (with one inclusion visit, one final visit and at least
two visits of follow up) up to a maximum of 24 months until their inclusion in the
subsequent clinical trial.
A complete evaluation of the clinical (symptoms and quality of life assessment) and
laboratory (blood and urine) data will be collected.
Status | Completed |
Enrollment | 9 |
Est. completion date | February 2014 |
Est. primary completion date | July 2013 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 18 Years to 65 Years |
Eligibility |
Inclusion Criteria: - Patient's written consent to take part in the study after receiving all the information regarding the design, objectives and potential risks that may arise during the observational study; as well as general information about the subsequent clinical trial. - Age between 18 and 65 years, inclusively. - Patient diagnosed of AIP (by clinical, biochemical data and genetic confirmation of porphobilinogen deaminase (PBGD) gene mutation). The patient must have a severe AIP condition, with at least two hospitalizations during the previous year due to acute attacks (clinical manifestations of acute porphyria), or at least four hospitalizations during the previous year due to the requirement of hospital treatment administration (including day-hospital and home hospital program). - Ability to follow instructions and cooperate during the study conduct. Exclusion Criteria: - Pregnant women, positive urine pregnancy test, or intention of becoming pregnant. - Acute or chronic liver disease for viral, autoimmune or metabolic cause, gastrointestinal dysfunction (different from those typical gastrointestinal symptoms of an acute attack of AIP), kidney disorder (renal impairment defined as plasma creatinine > 2 mg/dl (150 µmol/l)), severe respiratory disease, severe autoimmune disease or severe acute active infectious condition. - Presence of adeno-associated virus type 5 (AAV5) neutralizing antibodies. - Positive hepatitis B or C virus (HBV or HCV) serological test. - Positive human immunodeficiency virus (HIV) serological test. - History of drug (cannabis, cocaine, amphetamines, barbiturates) or alcohol abuse or addiction, during the three months preceding the initial visit. - Current or previous participation in a gene therapy trial. - Any other disease or condition that, in the opinion of the principal investigator, contraindicates their participation in the study because it can expose the patient to a risk or because disqualifies the patient to complete the timetable of the study. |
Observational Model: Cohort, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
Spain | 12 Octubre Hospital | Madrid | |
Spain | Clinica Universidad de Navarra | Pamplona | Navarra |
Lead Sponsor | Collaborator |
---|---|
Digna Biotech S.L. | Porphyria Centre Sweden, UniQure N.V., University of Navarra |
Spain,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Immunogenicity analysis | Serum samples obtained from the patients at the selection and final visit will be analyzed to determine the presence of total and neutralizing antibodies against AAV5. The presence of antibodies against the PBGD protein will also be identified. | up to 24 months | No |
Other | Biological markers identification | Serum samples will be collected in order to identify potential biological markers related to acute intermittent porphyria | up to 24 months | No |
Primary | Changes of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) urinary levels in AIP patients | The primary objective of this study is to observe the changes of PBG and ALA urinary levels in acute intermittent porphyria patients. The patient will collect an early morning single urine sample protected from light, for the determination of PBG and ALA during each of the study visits (inclusion, follow-up and final visits). If hemin or glucose treatments were necessary, the patient should collect a urine sample before treatment administration, and sent it or carry it to the local investigation center. | up to 24 months | No |
Secondary | Clinical Evolution of acute intermittent porphyria. Frecuency of hospitalizations | The information regarding the need and frequency of hospitalizations will be collected. | up to 24 months | No |
Secondary | Psychological evaluation of patients | The presence and level of anxiety and depression will be assessed by using the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI) rating scales. | up to 24 months | No |
Secondary | Health related quality of life | Health-related quality of life will be assessed through the SF-36v2 questionnaire. | up to 24 months | No |
Secondary | Frequency of AIP symptoms | The frequency of gastrointestinal, neurological, cardiovascular symptoms, abdominal pain and osteo-muscular pain, any other symptoms that may be considered associated with AIP will be collected. | up to 24 months | No |
Secondary | Frequency of treatments for AIP symptoms | The information regarding the need and frequency of specific treatments for symptoms control (analgesics, hemin and glucose endovenous solution), will be collected. | up to 24 months | No |
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