Institutional Registry of Rare Diseases

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

• Ages Any age
• All sexes
• No healthy volunteers
• Child, Adult, Older adult

Study population: People of any age, with a confirmed diagnosis of one or more rare diseases and followed up at Hospital Italiano de Buenos Aires, categorized as such according to the Orpha code from the List of Rare Diseases of the Ministry of Health of the Nation.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

About this study

Official title: Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)

Conditions

Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma

Keywords

rare diseases, amyloidosis, sarcoidosis, Phacomatosis, pheochromocytoma, paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia

Medical subject headings

Rare Diseases, Amyloidosis, Sarcoidosis, Neurocutaneous Syndromes, Pheochromocytoma, Paraganglioma, von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease

What is being measured

The primary outcome is the main question the study is designed to answer.

1. Overall Survival Rate

   The overall survival rate will be assessed by calculating the time from the date of enrollment/diagnosis until the date of death from any cause or date of last follow up.

   Measured: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.

2. Mortality Rate

   The mortality rate will be determined by the number of participants who die from any cause during the study period. The data will be reported as the percentage of participants who die within the specified time frame.

   Measured: From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.

3. Time to First Treatment

   The time to first treatment will be measured from the date of diagnosis until the initiation of the first therapeutic intervention. The data will be summarized as the median time in weeks.

   Measured: From date of diagnosis until the initiation of first treatment, assessed up to 12 months.

4. Demographic and Epidemiologic Profile

   Demographic and epidemiologic characteristics, including age, gender, ethnicity, and geographic location, will be described for all participants. The data will be summarized using descriptive statistics.

   Measured: At baseline, assessed at the time of enrollment.

5. Clinical Characteristics and Disease Progression

   Clinical characteristics, including disease stage, comorbidities, and symptoms, will be documented for each participant. Disease progression will be monitored and reported using standardized criteria for each illness.

   Measured: From date of enrollment until the end of the study, assessed up to 5 years.

6. Treatment Modalities Received

   Types of treatments received, including medication, surgery, and other therapeutic interventions, will be recorded for each participant. Data will be categorized by treatment type.

   Measured: From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.

7. Treatment Response

   Response to treatment will be evaluated using standardized response criteria for each illness. The data will be reported as the percentage of participants achieving partial or complete response.

   Measured: From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.

8. Incidence of Treatment-Related Adverse Events

   The incidence of treatment-related adverse events will be recorded and graded according to CTCAE version 5.0. The data will be reported as the number of participants experiencing adverse events by grade.

   Measured: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1. First posted27 Aug 2024
2. Study start1 Jul 2024
3. Primary completion31 Dec 2034 (estimated)
4. Study completion31 Dec 2034 (estimated)

Resources

• Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
• Publications (3)Papers the sponsor has linked to this study.
• Other trials for Rare DiseasesStudies of the same condition, open and under way.
• What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.